Note Paces

Abdominal
The General Examination:

Inspection around the bed: Medications, nutritional supplements.
Inspection of the patient: Cachexia, icterus or pallor, abdominal
distention
Hands: Arms outstretched and then cocked back; clubbing, leukonychia,
koilonychia, purpura, pin prick marks of BM testing, palmar erythema;
dupytrens contracture, capillary refill, skin temperature, radial pulse.
Arms: Purpura, AV fistula.
Eyes: Icterus, conjunctival pallor, xanthelasma.
Face: Parotid enlargement.
Mouth: Telangiectasia, pigmentation, angular stomatitis, gum
hypertrophy, macroglossia, aphthous ulcers.
Neck (and back at same time): JVP if CLD, neck scars (neck lines,
parathyroidectomy), palpate the lymph nodes (especially the left
supraclavicular node (Virchows node, if present = Troisiers sign); look
down the back incase of nephrectomy scars.
Chest: Arms behind head; loss of axillary hair in men, gynaecomastia,
spider naevi.
Inspection of the abdomen:
Herniae: Lift head off the bed; epigastric, umbilical, paraumbilical,
spigelian (lateral edge of rectus sheath, below and lateral to umbilicus),
incisional, inguinal, femoral, divarication of the recti.
Scars: Median (emergency, good access to most organs), paramedian
(emergency, good access), kockers (diagonal in RUQ; access to liver
and biliary tract), reverse kockers (diagonal in LUQ; splenic access),
rooftop (across RUQ and LUQ; access to oesophagus, stomach,
pancreas), extended rooftop/mercedes (liver transplant), loin incision
(nephrectomy), pfannensteil (access to womb, bladder, prostate),
rutherford morrison (renal transplant), grid iron (diagonal in RLQ;
appendicectomy), Lanz (appendicectomy), laparoscopic scars.
Skin: striae, caput medusae (radiate from umbilicus = portal
hypertension), reversal of flow patterns in prominent veins (normally
blood flows up above umbilicus and down below the umbilicus, but if
IVC obstruction blood flows up below the umbilicus).
Masses.
Auscultation of the abdomen: Bowel sounds, bruits (over the
abdominal aorta, renal arteries, iliac vessels), rubs (over the liver or
spleen).
Palpation of the abdomen: Gently for pain looking at the patients face,
then deeper in each section, then specifically liver, spleen, kidneys,
abdominal aorta.
Percussion of the abdomen: Liver and spleen from RLQ, bladder,
shifting dullness of ascites; tap away from yourself until dull, roll away
from me, tap again.
Legs: Peripheral oedema, rashes.
To finish off I would like to
Examine the hernieal orifices and external genitalia.
Perform a digital rectal examination.
Perform a urine dipstick.
If transplant check for glycosuria, hypertension and fever.
Chronic Liver Disease
Possible scenarios: Jaundice, fatigue, abdominal swelling, abdominal
discomfort.
Assessing for chronic liver disease: You should be asking yourself four
questions:
What features of chronic liver disease are present?
Features of reduced oestrogen breakdown palmar erythema, spider
naevi (5 or more), gynaecomastia, reduced axillary and genital hair,
testicular atrophy.
Features of reduced liver synthetic function cachexia, leukonychia,
bruising.
Features of portal hypertension caput medusae, splenomegaly.
What features of decompensation are present? Look for hepatic
encephalopathy (liver flap, drowsiness, confusion), ascites (shifting
dullness, fluid thrill, drain/tap marks, tazocin), easy bleeding (bruising),
and jaundice. If there is decompensation, what is the patients fluid
status? basing the latter on peripheral perfusion, pulse, mucous
membranes, JVP, peripheral oedema.
What features of malignancy are present? Cervical lymphadenopathy,
nodular lesions when palpating the liver, bruit on auscultation over the
liver.
What do I think the underlying cause is? See below.
Classic cases:
Alcoholic liver disease: Dupytrens contracture, enlarged parotids.
Hepatitis B/C: Tattoos, track marks.
Hereditary haemochromatosis: finger prick marks from BM testing,
arthropathy, bronze pigmentation.
Primary biliary cirrhosis: Middle aged female, xanthelasma, excoriation
marks, easy bruising (due to CLD and impaired absorption of fat soluble
vitamins), hepatosplenomegaly.
Autoimmune hepatitis: Vitiligo, scar from previous thyroidectomy.
Differential diagnosis:
Toxic: Alcohol, methotrexate, amiodarone, isoniazid.
Metabolic: Non-alcoholic steatohepatitis (NASH).
Infective: Hepatitis B and C.
Autoimmune: Primary biliary cirrhosis, autoimmune hepatitis, primary
sclerosing cholangitis, sarcoidosis.
Hereditary: Hereditary haemochromatosis, alpha-1-anti-trypsin
deficiency, Wilsons disease, glycogen storage disorders.
Further investigations:
Bedside tests: Urine dip (leukocytes and nitrates; pregnancy test if
young female), ascitic tap (fluid cell count and differential, protein,
albumin, culture in aerobic/anaerobic blood culture bottles).
Bloods: FBC (anaemia, thrombocytopaenia, leukopenia), clotting (due
to reduced production of clotting factors, and prior to taps or drain
insertion), U&Es (deranged electrolytes as a risk for decompensation,
monitoring therapy if on diuretics, risk of hepatorenal syndrome), LFTs
(albumin for synthetic function and SAAG, pattern of enzyme
derangement if hepatic or post-hepatic), glucose (risk of
hypoglycaemia, HH associated with diabetes).
Imaging: USS abdomen (to assess liver and spleen size; look for
cirrhosis, liver masses, ascites; assess portal pressures; once cirrhosis
confirmed, an annual USS should be arranged to monitor for
HCC), MRCP (could be done prior to ERCP, if features of obstruction on
USS).
Special tests: If cirrhotic a liver screen including HBV/HCV,
autoimmune screen including ANA and anti-mitochrondrial antibodies,
immunoglobulins, caeruloplasmin, ferritin, alpha-1-anti-trypsin,
oesophageao-gastro-duodenoscopy (surveillance for varices), also
an then consider liver biopsy and/or ERCP.
Referral:
Probably hepatology, may require admission to hospital or day unit for
tap or drainage, or assessment for acute decompensation.
Management:
Non-pharmacological: Dietician input, alcohol cessation, vaccinations
(hepatitis, pneumococcoal, and annual influenza), avoid hepatotoxic
agents (including NSAIDs and herbal remedies so educate the patient).
Medical: Colestyramine (pruritus), laxatives (avoid constipation), adcal
D3 (risk of osteoporosis), propanolol (if has varices), quinolone
antibiotics (levofloxicin etc for SBP prophylaxis if previous episode),
spironolactone +/- furosemide (if ascites), chlordiazepoxide+pabrinex (if
current alcohol excess).
Surgical/procedural: Serial therapeutic paracenteses, transjugular
intrahepatic portosystemic shunt (TIPS), liver transplantation.
Possible questions:
How do you diagnose Spontaneous Bacterial Peritonitis (SBP)? Ascitic
tap positive if neutrophil count >250 per ml.
What is the commonest cause of SBP? Escherchia coli.
If someone presented with abdominal swelling that is found to be
ascites, what would be your differential diagnosis?
Cirrhosis: Any of the causes listed above alcohol related, infectious,
immune, iatrogenic (medications like methotrexate), or hereditary.
Malignancy: Primary or secondary, solid organ or haematological.
Heart failure, pancreatitis.
Hypoalbuminaemia: Nephrotic syndrome, malnutrition.
Infection: Tuberculosis.
Endocrine: Hypothyroidism.
How much fluid usually needs to be present to be clinically detectable as
ascites? 1500mls though it can be less if very slim, and more if obese.
An USS can detect smaller amounts of <500mls.
How would you manage ascites? Establish the cause and manage/treat
that if possible. Refer to a dietician to educate on a salt restricted diet
and maintaining adequate nutrition, and advise the patient to avoid
alcohol and get vaccinated against hepatitis B. Medications wise,
usually start with 100mg spironolactone and titrate up to 400mg a day,
adding in frusemide if needed, and monitoring closely for side-effects
including electrolyte disturbance and deteriorating renal function. If
large volume, and causing respiratory distress, consider performing
therapeutic paracentesis, with 20% HAS at the same time if large
volumes are removed. If due to a malignant process and likely to be
longstanding you can arrange insertion of a PleurX drain which remains
in place and can be used for regular small volume draining in the
community by district nurses. Surgical options include TIPS (transjugular
intrahepatic portosystemic shunt) but this increases the risk of hepatic
encephalopathy.
Which forms of chronic liver disease are prone to causing
hepatosplenomegaly? Primary biliary cirrhosis, alcoholic liver disease,
cirrhosis with hepatocellular carcinoma.
How would you manage a patient with primary biliary
cirrhosis? Confirm the diagnosis with deranged liver function tests,
positive anti-mitochrondrial antibody, raised IgG and high cholesterol; a
liver biopsy demonstrates granulomas. If asymptomatic they have a
good prognosis and near normal life expectancy. If symptomatic the
prognosis is poor with a life expectancy of just a few years without
transplant. Medical management involves replacing fat soluble
vitamins, avoiding alcohol, ursodeoxycholic acid (improves LFTs),
cholestyramine (for pruritus).
What is the cause of Wilsons disease? Autosomal recessive defect in
ATP7B on chromosome 13, which means that there is reduced
excretion of copper into the bile and subsequent accumulation in other
organs including the liver and brain. It results in low caeruloplasmin
levels and high urinary copper levels. Kayser fleisher rings are seen on
slit lamp, and a liver biopsy may be required. It is managed with dietary
avoidance of high copper containing foods (shellfish, avocados etc) and
other hepatotoxic agents like alcohol, in addition to copper chelation
with penicillamine and zinc acetate. It can present with acute or chronic
liver failure, haemolysis, and neurological involvement including
movement disorders (asymmetrical tremor or choreiform movements)
and psychiatric manifestations. Other complications include
cardiomyopathy and Fanconis syndrome. Some will undergo liver
transplant which will cure the underlying defect via a form of surgical
gene therapy.
*Example presentation: This is an elderly male with chronic liver disease
as suggested by the presence of palmar erythema, spider naevi,
gynaecomastia, and reduced axillary hair. The liver is not palpable.
There is evidence of decompensation with purpura, icterus and ascites;
but no encephalopathy was elicited today. Their disease is complicated
by portal hypertension with splenomegaly, ascites and caput medusae.
The spleen is felt 3 finger breadths below the costal margin, and is firm
and non-tender. Other notable findings on examination are the
presence of a recent ascitic drain or tap mark and a tattoo on the right
forearm. My differential diagnosis includes hepatitis B and C, alcoholic
and non-alcoholic steatohepatitis, and a range of autoimmune and
inherited diseases. To investigate the patient further I would like a full
set of bedside observations, to review stool and fluid balance charts,
and send an ascitic tap sample for cytology, microbiology and
biochemistry. Blood tests should focus on assessing the liver synthetic
function and enzyme profile and include a screen for the diseases listed
previously. An abdominal ultrasound could confirm the presence of
cirrhosis, focal liver lesions, splenomegaly and ascites; whilst an
endoscopic examination could confirm varices. A liver biopsy may be
required to confirm or stage the disease. Management would require
education and counselling, advice to cease alcohol or drug abuse if
relevant, vaccination against hepatitis A and B, and referral to a
dietician to advise on low salt diet. If possible, the underlying disease
should be treated, and long term complications managed such as
diuretics and elective paracentesis for ascites, antibiotics as per local
guidelines for SBP followed by antibiotic prophylaxis, laxatives aiming
for 2 soft stools a day, beta blockers if varcies are present, and rifaximin
if theyve experienced encephalopathy. Surgical options include
transjugular intrahepatic portosystemic shunt formation, although this
increases the risk of encephalopathy; or liver transplant if they meet
eligibility criteria.
Craggy Hepatomegaly
Possible scenarios: Fatigue, weight loss, anaemia, jaundice, abdominal
pain.
Palpation of a liver: Mass in the right hypochondrium which is dull to
percussion, you cannot get above it or ballot it, it moves down on
inspiration to the right iliac fossa. Note if there are co-existent signs of
chronic liver disease (palmar erythema, pupura, spider naevi,
gynaecomastia, axillary hair loss), hepatic decompensation
(encephalopathy, ascites, coagulopathy, jaundice) or portal
hypertension (caput medusae, splenomegaly).
Classic cases:
Hepatocellular cancer or secondary malignancy: Cachexia, pale palmar
creases and conjunctivae, lymphadenopathy (esp.left supraclavicular
fossa Virchows node), scar from biopsy, ascites.
Polycystic liver disease: Either in isolation or with polycystic kidneys so
look for signs of chronic renal failure and renal replacement therapy.
Hydatid cyst: Case in a farmer, on individuals from higher prevalence
areas (i.e.: Wales), history of anaphylaxis, jaundiced, tender
hepatomegaly.
Bedside tests: Urine dipstick (haematuria may be seen in ADPCKD).
Bloods: FBC (anaemia, white cell count, eosinophil count; platelets prior
to invasive procedures), LFTs (hepatic or obstructive picture, albumin
for synthetic function), INR (synthetic function and prior to invasive
procedures)U&Es (co-existent renal impairment), ESR/CRP (may be
raised in infection or malignancy), virology (HIV, hepatitis B, hepatitis
C), serological examination for echinococcus (for hydatid disease).
Imaging: Abdominal USS (mass lesions, cirrhosis, cystic lesions,
potential for biopsy, co-existent lymphadenopathy), CT CAP (to stage
and identify primary and biopsy sites if malignancy suspected).
Special tests: Biopsy (for histological diagnosis if cancer likely, or
diagnosis remains unclear after the above, and hydatid cysts excluded).
Referral:
Consider gastroenterology.
Possible questions:
What are the commonest causes of HCC? Most cases arise in individuals
with chronic liver disease, particularly chronic hepatitis B and C,
alcoholism, hereditary haemochromatosis, and primary biliary cirrhosis.
In some countries there is a link with aflatoxins.
What primary sites metastasise to the liver? GI tract tumours including
stomach, pancreas and colon; in addition to lung, breast, ovarian and
melanomas.
Liver Transplant
Examining a liver transplant: Look for the Mercedes Benz incision which
is a bilateral rooftop with sternal extension (though you may also get a
single horizontal scar, or a reversed L shape scar), and any
accompanying scars (drains, Rutherford Morrison if concurrent renal
transplant). The liver may or may no be palpable, and may simply be
related to size differences between the donor and recipient. Explain
that the patient has had a liver transplant and then go on to comment
on graft function (as there is a risk of rejection with vanishing bile ducts,
biliary strictures) by ascertaining:
Signs of chronic liver disease: Bear in mind that gynaecomastia can
persist and dupytrens will persist.
Signs of decompensation: Encephalopathy, jaundice, ascites, purpura.
Signs of portal hypertension: Caput medusae, splenomegaly, ascites.
The next step is to comment on complications of immunosuppression:
General: Dysplastic skin lesions, warts, oral candida.
Steroids: Finger prick glucose marks, hypertension, weight gain,
interscapular fat pad, purpura, acne.
Tacrolimus: Finger prick glucose marks, hypertension.
Cyclosporin: Hypertension, gum hypertrophy, tremor, evidence of renal
transplant.
And finally on aetiology for example alcohol is the commonest cause
in the UK, followed by hepatitis B and C (I can see tattoos which
indicate possible exposure to blood bourn viruses).
The three commonest indications for liver transplant are:
Cirrhosis
Aute liver failure (i.e.: hepatitis A/B or paracetamol OD)
Hepatocellular carcinoma
A similar scar can be seen in those who have undergone other
hepatobiliary surgery.
Investigations:
Bedside tests: Blood pressure (hypertension), finger prick glucose
(diabetes risk), temperature (infection).
Bloods: FBC (anaemia, signs of infection or
immunsuppression), U&Es (deterioration in renal function may increase
drug levels to toxic levels, CNIs may cause renal impairment), LFTs,
fasting glucose (diabetes risk), lipids (CVD risk factor management).
Management:
Non-pharmacological: Avoid live vaccines, alcohol cessation, smoking
cessation, encourage attendance at cancer screening programme
appointments, avoid sun exposure.
Medical: Always check medication interactions before prescribing
(commonly interact through P450 enzyme inhibition/induction or by
causing renal impairment), CVD risk factor management including anti-
hypertensives (CCBs or ACE-is) and cholesterol lowering agents
(pravastatin preferred as does not interfere with CNIs),
methylprednisolone (rejection), bone protection measures
(osteoporosis common).
Surgical: Abscess drainage, reconstructions if leaks/bleeding, repeat
transplants for graft failure.
Questions:
What conditions are treated with liver transplant? Chronic liver failure
(alcohol, hepatitis B and C, autoimmune hepatitis/PBC, PSC, hereditary
haemochromatosis, HCC), acute liver failure (paracetamol OD, Budd-
Chiari, acute fulminant autoimmune hepatitis, Wilsons disease), and
surgical gene therapy (familial amyloidosis, familial
hypercholesterolaemia).
What features in an individual with chronic liver disease would warrant
consideration of transplantation? Progressive jaundice, diuretic
resistant ascites, and hepatocellular carcinoma.
What risk scores can be applied to stratify short term prognosis in those
with chronic liver disease awaiting transplant without the above
features? MELD (model for end stage liver disease) score gives an
indication of prognosis without liver transplantation.
What criteria are used to decide on liver transplantation in the
emergency setting? Kings College Criteria are used for super-urgent
listings on the liver transplant waiting lists.
What conditions can recur post-transplant? Hepatitis B and C,
hepatocellular cancer, primary biliary cirrhosis, budd-chiari.
If there is a scar of both liver and renal transplant what diseases
would you think of? The primary consideration is whether they have
had an initial liver transplant, and then developed renal failure
secondary to calcineurin inhibitor use. Alternative possibilities include
hepatitis C with concurrent cryoglobulinaemia.
References:
Hirschfield GM et al. Adult liver transplantation: what non-specialists
need to know. BMJ 2009. 338: b1670.
*Example presentation: This elderly woman has undergone liver
transplantation as evidenced by the bilateral rooftop scars with sternal
extension. The underlying cause for this could not be deduced on
examination today but the commonest reasons in the UK would be
cirrhosis, acute liver failure secondary to hepatitis A, B and paracetamol
overdose, and hepatocellular carcinoma. The liver itself is not palpable.
The graft appears to be functioning well there are no features of
decompensation and the patient is euvolemic. Suggestions of
immunosuppression include Cushingoid body habitus with finger prick
glucose testing marks, gum hypertrophy and multiple dysplastic skin
lesions. To investigate this patient further I would like a full set of
bedside observations, and a finger prick and urine sample to asses for
hyperglycaemia. I would like to draw bloods, being particularly
interested in liver synthetic function and enzyme profile, renal function
given its effects on immunsuppresive drug medications, lipid profile and
HbA1c, and inflammatory markers in view of infection risk. I would like
to review any available imaging, operative notes and biopsy results. She
should be reviewed regularly within an MDT that includes input from
GP, specialist nurses, psychologists and pharmacists; in order to asses
graft function and long term risks of therapy including increased risk of
neoplasia and cardiovascular disease. I would advise her regarding the
avoidance of drugs, alcohol and smoking; reducing sun
exposure, attendance at cancer screening programmes, medication
compliance and avoiding over the counter or herbal remedies without
seeking specialist advice. She should have been vaccinated against
hepatitis B and have received the pneumovax, and told to avoid live
vaccines. Commonly used immunsuppressive medications include
steroids and calcineurin inhibitors. If I had any suspicion of graft failure I
would liaise urgently with her specialist team.
Polycystic Kidney Disease
Scenarios: Abdominal swelling, abdominal pain, haematuria,
hypertension, previous intracranial haemorrhage.
Examination of polycystic kidney disease: They have chronic renal
disease secondary to polycystic kidney disease as evidenced by the
presence of visibly distended loins, ballotable flank masses which you
can get above and do not move with inspiration.
There may be additional suggestive features including nephrectomy
scars, craniotomy scars, hemiparesis, or irregular hepatomegaly.
My differential diagnosis for bilaterally palpably enlarged kidneys would
include normal kidneys in a slim patient, hydronephrotic kidneys
secondary to obstruction, amyloidosis or conditions like tuberous
sclerosis and von hippel lindau. My differential diagnosis of a single
palpable kidney includes palpable right kidney in a slim individual,
hypertrophy of a single functioning kidney, neoplastic disease and
unilateral hydronephrosis secondary to obstruction.
Their current method of renal replacement therapy is
Renal transplant: Rutherford Morrison scar in the right iliac fossa; well
circumscribed, smooth, firm mass felt below the scar about 8x5cm; dull
to percussion; auscultate for a bruit (may indicate arterial stenosis). If
there is another similar scar with a mass also below it in the left iliac
fossa this could be a double transplant (i.e.: cadaveric, quality of donor
organs sub-optimal, so both transplanted) or a previous failed graft on
right with new in left. Look additionally for Cushingoid features and
features such as gum hypertrophy and hypertrichosis.
Haemodialysis via AV fistula: First asses its location (radio-cephalic,
brachial-cephalic, or brachial-basilic), then feel for a thrill (three fingers
along its length) and auscultate for a bruit.
Haemodialysis via venous catheter: Scars along the anterior chest wall
from previous vascular access points, if actually present check for
infection.
Peritoneal dialysis: Intrabdominal catheter, herniae, laparotomy scar
related to previous catheter related peritonitis.
Previous renal replacement therapy includes (as above).
Their current method of renal replacement is:
Adequate: Euvolemic, no excoriation marks, no signs indicating active
use of another replacement method.
Inadequate: Tachypnoea, raised JVP, peripheral oedema, asterixis,
confusion, excoriation marks, pericardial rub.
There are complications of chronic renal disease including pale palmar
creases, conjunctival pallor, and/or parathyroidectomy scar.
To complete my examination I would like to:
Dipstick the urine and take a blood pressure.
Examine the external genitalia and hernieal orifices.
Ask about family history, auscultate the heart to check for mitral valve
prolapse, and enquire about any previous aneurysms or brain imaging.
Investigation:
Bedside tests: Electrocardiogram (), urine MCS and
cytology (considering complications like UTI and differential diagnosis
of neoplasia).
Bloods: Full haematological and biochemical profile being particularly
interested in their haemoglobin (), urea, creatinine and electrolytes (),
and bone profile ().
Imaging: Renal tract ultrasound scan ().
Special tests: EPO and haematinics (assessing cause and best
management of anaemia).
Treatment:
Non-pharmacological: Education, signpost to appropriate support
groups, referral for genetic counselling, dietician referral.
Medical: Treatment of co-existing issues such as hypertension,
infection.
Surgical: Renal transplant +/- nephrectomy, nephrectomy alone (for
recurrent bleeding and infections).
Questions:
What causes loin pain in patients with autosomal dominant polycystic
kidney disease? Physical compression due to their enlarged size, cyst
rupture or haemorrhage, renal tract stones, and urinary tract
infections.
What genetic abnormalities are seen in patients with autosomal
dominant polycystic kidney disease? Most have a mutation in PKD-1
(encoding polycystin-1) on chromosome 16; whilst a smaller number
have a mutation in PKD-2 (encoding polycystin-2) on chromosome 4.
What are the extra-renal features of autosomal dominant polycystic
kidney disease? Hepatic cysts, intracranial berry aneurysms with risk of
subarachnoid haemorrhage, and mitral valve prolapse.
Which renal cystic conditions are at high risk of neoplastic
transformation? Von hippel lindau disease and tuberous sclerosis.
Renal Transplant and Dialysis
Scenarios: Abdominal pain, reduced urine output, fatigue.
Examining renal transplants:
What is the underlying aetiology of the renal disease?
Diabetes: Finger prick diabetic marks, evidence of insulin injections i.e.:
lipoatrophy and lipohypertrophy.
Hypertension
Autosomal dominant polycystic kidney disease: Ballotable flank masses
which you can get above and do not move with inspiration,
nephrectomy scar.
Systemic lupus erythematosus (SLE): Reducible arthopathy of the hands
(Jaccouds), photosensitivity, scarring alopecia, butterfly rash which is
erythematous and shows follicular plugging and spares the nasolabial
folds.
Alports syndrome: Hearing aids.
Tuberous sclerosis: Subungual fibromas, adenoma sebaceum, shagreen
patches, ash leaf macules.
MPGN type 2: Lipodystrophy.
What is their current method of renal replacement therapy? Rutherford
Morrison scar in the right iliac fossa; well circumscribed, smooth, firm
mass felt below the scar about 8x5cm; dull to percussion; auscultate for
a bruit (may indicate arterial stenosis). If there is another similar scar
with a mass also below it in the left iliac fossa this could be a double
transplant (i.e.: cadaveric, quality of donor organs sub-optimal, so both
transplanted) or a previous failed graft on right with new in left. Be
aware that a small number of individuals with type 1 diabetes have
undergone a simultaneous pancreas-kidney transplant and in which
case there is a midline laparotomy scar and often a left sided renal
transplant.
What renal replacement therapy have they used in the past?
Haemodialysis via AV fistula: First asses its location (radio-cephalic,
brachial-cephalic, or brachial-basilic), then feel for a thrill (three fingers
along its length) and auscultate for a bruit.
Haemodialysis via venous catheter: Scars along the anterior chest wall
from previous vascular access points, if actually present check for
infection.
Peritoneal dialysis: Intrabdominal catheter, herniae, laparotomy scar
related to previous catheter related peritonitis.
How well is the transplant working? Tachypnoea, raised JVP, peripheral
oedema, asterixis, confusion, excoriation marks, pericardial rub OR
euvolemic and absence of signs indicating active use of another method
of replacement.
What evidence of end stage renal disease are present? Pale palmar
creases, conjunctival pallor, parathyroidectomy scar, renal
osteodystrophy (may look like severe finger clubbing, but in fact there
is resorption of the distal phalanx).
What complications of renal transplant are evident?
Steroids: Finger prick glucose marks, hypertension.
Ciclosporin: Finger prick glucose marks, hypertension, hirsuitism, gum
hypertrophy.
Tacrolimus: Finger prick glucose marks, tremor.
Mycophenolate mofetil: Pale palmar creases, conjunctival pallor, oral
ulcers.
Azathioprine: Pale palmar creases, conjunctival pallor, icterus.
Sirolimus: Pale palmar creases, conjunctival pallor, poor wound healing,
peripheral oedema, proteinuria.
Non melanoma skin cancers: SCC and BCC.
Investigations: Patients require frequent monitoring in the immediate
phase after transplantation, and after that, require at least annual
review screening for malignancy, cardiovascular disease, and drug
toxicity.
Bedside tests: Urine dipstick (blood, protein, glucose), blood
pressure (raised), finger prick glucose (raised due to aetiology or
medications), ECG (saddle shaped ST elevation and PR depression of
pericarditis, LVH)
Bloods: FBC (anaemia), U&Es (creatinine, urea and potassium may be
high), bone profile (hypo or hypercalcaemia, hyperphosphatemia),
glucose (raised), HbA1C (raised), iron stores/B12/folate (need to be
adequately supplemented to optimise Hb), EPO (to determine if EPO
supplementation would be useful if Hb low despite haematinic
replacement), vitamin D (low), PTH (high in secondary or tertiary
hyperparathyroidism).
Imaging: USS renal tract +/- doppler studies (obstruction, stenosis,
thrombosis, leaks).
Special tests: Renal biopsy (for surveillance and to investigate graft
deterioration).
Management:
Non-pharmacological: Smoking cessation, dietary sodium/potassium
restriction, minimal alcohol intake, avoid sun exposure, avoid live
vaccines.
Medical: When starting medications review for possible interactions
and toxicity profiles (i.e.: no P450 inhibitors if on siro/tac/cyclo, no
NSAIDs), sodium bicarb and loops for hyperkalemia, phosphate binders
for renal osteodystrophy, sodium bicarb for acidosis, vitamin D
supplementation, replace haematinics and consider IV iron and/or EPO.
Surgical: Parathyroidectomy.
Questions:
What are the commonest causes of renal transplant in the UK? Diabetes
mellitus, glomerulonephritis, hypertension; other causes of end stage
renal failure are polycystic kidney disease, obstructive uropathy and
renovascular disease.
What are the indications for urgent dialysis? Refractory hyperkalaemia,
acidosis or fluid overload; uraemic pericarditis or encephalopathy;
removal of drugs in severe overdoses (i.e. salicylates, lithium).
What complications can develop in an individual with a renal
transplant? Graft complications include rejection, nephrotoxicity of
calcineurin inhibitors (cyclosporin and tacrolimus), recurrence of
original disease in the graft itself, renal artery thrombosis and stenosis.
Other complications include infection and increased malignancy risk
secondary to immunsuppression, and accelerated cardiovascular
disease.
At what stage would you refer someone for renal replacement
therapy? Individuals should be referred to a nephrologist if in CKD stage
4-5 (eGFR<30) or if stage 3 but rapidly progressive. Ideally they are seen
at least 1 year prior to the anticipation of needing RRT.
What are the complications of an AV fistula? Infection (cellulitis,
abscess, bacteraemia, source of septic emboli), thrombosis, stenosis
(make a fist and place the arm in dependent position, watch vein fill, lift
arm up and fistula should collapse, if it doest, there is stenosis),
aneurysm formation, steal syndrome (weak pulse, cold and painful
hand, contracture), ischaemic polyneuropathy, and high output cardiac
failure (greatest risk if more proximal).
What are the options for vascular access in renal replacement
therapy? In order of preference AV fistula, AV graft, tunnelled venous
catheter, non-tunnelled venous catheter.
References:
Siddiky A et al. Management of arteriovenous fistulas. BMJ. 2014; 349.
Thiruchelvam P et al. Renal Transplantation. BMJ. 2011; 343.
*Example presentation: This middle aged female has end stage renal
failure. The most likely cause is diabetic nephropathy as evidenced by
the presence of finger prick glucose testing marks and insulin at the
bedside. My differentials would include hypertensive nephropathy,
glomerulonephritis, autosomal dominant polycystic kidney disease,
obstructive and renovascular disease. The current mode of renal
replacement therapy is a renal transplant situated in the right iliac
fossa, and there is evidence of previous renal replacement with an AV
fistula in the right forearm, and scars on the abdomen consistent with
peritoneal dialysis catheter insertion. The current method appears to be
functioning adequately. Complications of immunusuppression are
evident with Cushingoid body habitus, gum hypertrophy and dysplastic
skin lesions. To investigate this patient further I would like a full set of
bedside observations and to review the fluid balance chart. On the
blood tests I would be particularly interested in her haemoglobin, urea,
creatinine, electrolytes, bone profile, lipids and HbA1c. I would like to
review any recent ultrasound imaging of the renal tract and renal
biopsy results. She requires regular review to assess graft function and
monitor for complications of therapy, particularly the increased risk of
cardiovascular and neoplastic disease. This is best done within an
MDT environment with input from the GP, specialist nurse,
psychologists and renal pharmacists. I would ensure that she
was educated regarding healthy diet and exercise, smoking cessation,
reducing sun exposure, and the importance of medication compliance
and avoidance of over the counter or alternative therapies without
specialist advice. She should be vaccinated against hepatitis B and
pneumococcus and avoid live vaccines and individuals with infections
like chickenpox. Immunsuppression is typically with steroids, calcineurin
inhibitors and sirolimus. I would seek urgent specialist advice if there
was evidence of deteriorating graft function.
Splenomegaly
Possible scenarios: anaemia, fatigue, lympadenopathy, early satiety,
easy bruising, night sweats.
Palpation of a spleen: Moves down with inspiration, notch on the
medial surface, cant get above it, dull to percussion, not ballotable.
Classic cases:
Feltys syndrome: symmetrical deforming polyarthropathy mainly
affecting the small joints of the hands which spares the distal
interphalangeal joints (DIPJs) and is associated with ulnar deviation and
dorsal subluxation of metacarpophalangeal joints (MCPJs), and nodules
on the extensor aspects of the forearm. Specific issues to address
presence of immunosuppression, presence of infection. Specific tests to
request FBC (neutrophil count), rheumatoid factor (almost always
positive in these patients).
Differential diagnosis: Can split via size (massive >8cm, moderate 4-8cm
or tip <4cm) or by category
Haematological: lymphoma and myelodysplastic syndromes,
particularly CML and myelofibrosis, or smaller enlargements due
to haemolytic anaemia.
Pressure: portal hypertension secondary to liver disease or splenic vein
thrombosis.
Infection: malaria, visceral leishmaniasis or smaller enlargements due
to EBV and bacterial endocarditis.
Inflammatory: Feltys syndrome.
Infiltration: Gauchers or amyloidosis.
Bedside tests: urine dip (haematuria in the presence of renal infarcts in
endocarditis).
Bloods: FBC (anaemia, polycythaemia, high or low white cell or platelet
counts), blood film (as for FBC, also cell morphology), LFTs (co-existing
liver disease or evidence of haemolysis), LDH
(haemolysis), virology (HIV, hepatitis), thick and thin blood films
(malaria).
Imaging: USS abdomen (to assess spleen size, establish if co-existing
hepatic disease, portal hypertension, splenic vein thrombosis), may
need to consider progressing to CT CAP (to establish
lymphadenopathy).
Special tests: bone marrow aspirate and trephine (haematological
malignancy), lymph node biopsy (haematological malignancy).
Referral:
Probably haematology, but may also require rheumatology or hospital
admission for urgent evaluation.
Possible questions:
What is the differential diagnosis of hepatosplenomegaly?
Haematological (myeloproliferative CML or lymphoproliferative
disorders lymphoma and CLL), infective (hepatitis B, hepatitis C, EBV,
CMV and malaria), chronic liver disease with portal hypertension
(alcoholic, medications, NASH, autoimmune), and hereditary conditions
(Wilsons, haemochromatosis, glycogen storage disorders).
What are the indications for splenectomy? Traumatic injury to the
spleen (+ significant blood loss, haemodynamically unstable,
progressive anaemia), haematological disease not responding to
conservative or medical management (including ITP, hereditary
spherocytosis, thalassemia major) rarely in lymphoma.
What are the complications of splenectomy? Infection (encapsulated
organisms like neisseria, pneumococcus, and haemophilus; malaria and
babeosis), thrombocytosis post-operatively.
What measures can be taken to protect people with splenectomy? If
possible pre-operative vaccination >2 weeks beforehand, prophylactic
penicillin V, medic alert bracelet, advice to seek medical attention early
in infection.
Respiratory
Inspection around the bed: Oxygen, inhalers (suggestive of some form
of obstructive airways disease e.g.: tiotropium highly suggestive of
COPD), spacers, nebulisers, sputum pots, peak flow meters, antibiotics,
steroids.
Inspection of the patient: Can you take a deep breath in for me? Look
generally for symmetry of breathing and depth of inspiration, then for
cachexia and cushingoid features. A very protuberant abdomen and
abnormal posture may indicate ankylosing spondylitis. Can you take a
big cough for me? Helps identify if the examination will cause the
patient any pain.
Hands: Can you hold your hands out straight for me like this? Whilst in
that position look for clubbing, cyanosis, tar staining, wasting of the
intrinsic muscles of the hands, thin skin and easy bruising. Look for joint
deformities, gottrons papules, mechanic hands, nail fold vasculitis,
photosensitive skin rash. Can you now hold your wrists back like
this? Palmar erythema.
Arms: Palpate the wrists for tenderness of HPOA. If youve seen
rheumatoid hand changes check for nodules on the extensor aspects.
Take a pulse whilst counting the respiratory rate.
Eyes: Miosis (pupillary constriction), partial ptosis.
Face: Anhidrosis, lupus pernio (bluish-red, dusky purple nodules and
plaques, often on nose and cheeks), lupus vulgaris (apple-jelly nodules,
often scar and ulcerate, tender, on the face), facial swelling of SVCO
obstruction.
Mouth: Central cyanosis, microstomia.
Neck: Look to the side for me. JVP (large CV waves of TR or fixed and
raised in SVCO). Im just going to feel for your windpipe, this may feel a
little uncomfortable. Check its central. Can you sit forward for me? I
just want to feel the glands in your neck and examine your
back. Palpate the lymph nodes.
Inspect the back: Scars.
Palpate the back of the chest: Im going to circle my hands around your
chest, take a deep breath in for me? Do this in three locations along the
back checking for symmetry. Sacral oedema.
Percuss the back of the chest: Resonant, dull or stony dull.
Auscultation of the lungs posteriorly: Listen for the inspiration and
expiration, if symmetrical, if similar throughout the lungs from apices to
bases, listen for additional noises such as wheeze, crepitations and
bronchial breathing or if simply vesicular; if abnormal sounds head,
request patient to cough and listen again. Then, Each time I place
the stethoscope on your chest can you say 99 for me? To asses if vocal
resonance is normal, increased, or decreased.
Inspect the front of the chest: Pectus carinatum, pectus excavatum,
dilated veins over the arms, neck and upper chest, scars (i.e.:
mediastinoscopy scar, phrenic nerve crush).
Palpate anterior chest: Feel for a parasternal heave and palpable
thrill overlying the 2nd left intercostal space, then asses chest
expansion.
Percuss anterior chest: Resonant, dull, or stony dull and specifically
note if normal dullness over liver and heart present.
Auscultate anterior chest: At P and T area to asses if loud second heart
sound or any murmur of PR/TR then as above normal breath sounds
first, then doing 99.
Examine the legs: DVT, erythema nodosum, peripheral oedema.
Complete the examination:
Take a full history and complete examination.
Review the drug chart and observation chart.
Check sputum pots and peak flow readings if available.
Examine the axillary lymph nodes if cervical nodes present.
Grades of clubbing:
Grade 1: Increased fluctuation of the nail bed.
Grade 2: Loss of the angle between the nail and nail bed.
Grade 3: Drumstick appearance of the fingers.
Grade 4: Bony changes also affecting the wrists and ankles.
Causes of clubbing:
Congenital/idiopathic
Supparative lung diseases: Empyema, abscess, cystic fibrosis,
bronchiectasis.
Other lung disease: Bronchial carcinoma, mesothelioma, fibrosis.
Cardiac: Eisenmengers syndrome, infective endocarditis, atrial
myxoma.
Gastrointestinal: Inflammatory bowel disease, primary biliary cirrhosis.
Pseudoclubbing: Thyroid acropachy.
Different inhalers:
Aerosol MDI: The usual L-shaped ones that people are often prescribed
first and can be used with spacers (i.e.: salbutamol blue L shape).
Breath actuated inhaler: Also L-shaped but with a little dip down at the
end of it (i.e.: Autohaler) usually with a lever to click up or cap to flick
open (i.e.: Easibreathe).
Accuhaler: Breath activated like the above, but contain a dry powder
and are typically round in shape.
Bronchiectasis
Possible scenarios: Fatigue, shortness of breath, difficulty in breathing,
reduced exercise tolerance, productive cough.
Examining bronchiectasis: Look for and examine sputum pots (which
may include haemoptysis), clubbing of the fingers (not always present),
get the patient to cough on hearing crackles as the character should
change and there may be an associated wheeze. The crackles can occur
at any point in the respiratory cycle. Sometimes inspiratory clicks and
crackles can be heard with the unaided ear. You need to ask yourself
four questions
Which part of the lung is affected?
Is there a possible underlying cause identified examining peripherally?
Are there any signs of treatment such as steroids or long term
antibiotics? A line in the arm is likely a PICC line, a line under the
clavicle is likely a Hickmann line, and these may have buttoned endings
called ports at their ends.
Are there any signs of complications such as cor pulmonale?
Classic cases:
Rheumatoid arthritis: Symmetrical deforming polyarthropathy mainly
presence of immunosuppression, presence of infection, urine dip for
proteinuria.
Cystic fibrosis: Slim and short, pale, diabetic finger prick marks,
clubbing, scars from previous or current long lines for antibiotics. Offer
the resp investigations but also sweat test for sweat sodium and
chloride >60mmol/L, faecal elastase, abdo USS for liver, CT sinuses,
DEXA scans, family counselling and testing.
Kartageners Syndrome: Slim and short, pale, clubbing, scars from
previous or current long lines for antibiotics; dextrocardia clinches the
diagnosis (think about this when youve decided in your head that this
might be bronchiectasis and youre checking for chest expansion can
you feel the apex beat on the right side?). If dextrocardia is found then
proceed to percuss and palpate for liver dullness on the left which
would indicate situs inversus.
Yellow nail syndrome: Yellow, slow growing nails with some degree of
onycholysis and very curved, and features of a pleural effusion or
bronchiectasis on the chest, and lymphoedema elsewhere.
Associated signs:
Cor pulmonale: Raised JVP, left parasternal/right ventricular heave,
loud P2, split second heart sound, peripheral oedema.
Respiratory failure: Flap of outstretched hands, drowsy, cyanosed.
Infection: Antibiotics, fever, bronchial breathing.
Scars: Chest drains for empyema.
Congenital or acquired.
Idiopathic.
Inherited: Cystic fibrosis, Kartageners syndrome, primary ciliary
dyskinesia, yellow nail syndrome.
Infection: Tuberculosis, aspiration, childhood infections including
measles and pertussis.
Post-obstruction: Foreign body aspiration.
Hypersensitivity: ABPA, rheumatoid arthritis, inflammatory bowel
disease associated.
Immunodeficiency: Hypogammaglobulinaemia, AIDS.
Differential of clubbing with coarse crackles includes malignancy,
supparative lung infections, and pulmonary fibrosis with co-existent
infection.
Bedside tests: PEFR, ECG (right heart strain), ABG (hypoxia, respiratory
failure, acidosis), obtain a sputum sample (send for MCS and AFBs;
cytology to r/o a neoplastic process), urine dipstick (for proteinuria
suggestive of amyloidosis).
Bloods: FBC (anaemia, polycythaemia, high white cell
counts), CRP/ESR (markers of inflammation), immunoglobulins including
total IgE (immunodeficiency, ABPA), aspergillus serology and functional
antibody tests to tetanus, pneumococcus and haemophilus (functional
immunodeficiency); if under 40 with upper lobe bronchiectasis and no
cause found test for CF with sweat test and genetic screening. Consider
special tests such as autoimmune screen including ANA, RF, and ACE.
Imaging: CXR (tramlines, ring shadows), high resolution CT (signet ring
sign, localised or generalised).
Special tests: Spirometry (often obstructive, normal or mixed
pattern), bronchoscopy (to obtain microbiological or tissue specimens,
exclude obstructive lesion if localised).
Referral:
Probably respiratory, consider if inpatient assessment is required.
Management:
Conservative: Smoking cessation, postural drainage (assisted by
mucolytics and nebulised saline), active cycle breathing, pneumococcal
and annual influenza vaccinations.
Medical: Treat intercurrent infections, treat colonising infections
(nebulised, oral or parenteral), inhalers, anti-inflammatories (3 times a
week azithromycin), LTOT.
Surgical: Drainage or removal of localised bronchiectasis or abscess,
bronchial artery embolisation if massive haemoptysis.
Questions:
What is bronchiectasis? A permanent, pathological dilatation of the
bronchi and bronchioles.
What are the complications of bronchiectasis? Infective exacerbations,
empyemas, abscesses, cerebral abcesses, pneumothoraces, cor
pulmonale, and amyloidosis.
What infections are seen in patients with
bronchiectasis? Staphylococcus aureus, haemophilus influenzae,
pseudomonas, pneumococcus, klebseilla, aspergillus.
What is the mode of inheritance of Kartageners Syndrome? Autosomal
recessive KS encompasses dextrocardia, situs inversus, bronchiectasis
and sinusitis with primary ciliary dyskinesia.
*Example presentation: My presumed diagnosis in this young female is
bronchiectasis as evidenced by the presence of clubbing and coarse
inspiratory and expiratory crepitations that alter with coughing and are
associated with inspiratory clicks. She is slim and has what looks like a
Hickman line in situ. I think the most likely diagnosis is Cystic Fibrosis or
Primary Ciliary Dyskinesia but my differential diagnosis is idiopathic,
infection related including childhood infections and tuberculosis,
hypersensitivity related such as ABPA, rheumatoid and inflammatory
bowel disease associated, and immune deficiency states such as
hypogammaglobulinaemia and HIV. There is no evidence of respiratory
failure or cor pulmonale on examination today and she is not
Cushingoid. To investigate further I would like to take a history, get a
full set of bedside observations, examine the sputum pots and send
them for MCS and cytology, and request spirometry to look for a
restrictive or obstructive lung defect wit reduced gas transfer. On her
blood tests I would be particularly interested in her autoimmune screen,
viral screen, immunoglobulins and functional antibody tests to tetanus,
pneumococcus and haemophilus, and consider sweat testing for CF. The
imaging modality of choice would be a high resolution CT scan of the
chest for signet ring sign and airway dilatation. She may require
bronchoalveolar lavage or biopsy. I would counsel the patient on the
diagnosis and signpost to appropriate support groups, advise smoking
cessation, pneumococcal and influenza vaccination, and refer to
respiratory physiotherapy for advice on postural drainage and active
cycle breathing. I would treat any underlying diseases, offer inhalers
and anti-inflammatories, treat intercurrent or colonising infections, and
consider the need for long term oxygen therapy. Some patients are
eligible for single or double lung or combined lung-heart transplants.
Chronic Obstructive Airways Disease
reduced exercise tolerance, cough, sputum production.
Examining COPD:
Inspection: Note the presence of inhalers, nebulisers, oxygen and
cigarettes around the bed. Look at the fingers for tar staining. Check if
the patient is showing signs of respiratory failure including cyanosis,
respiratory flap and bounding pulses or features of respiratory distress
with pursed lip breathing, nasal flaring, or intercostal recession. They
may have a tracheal tug (downward movement of the trachea in
inspiration). Look for signs of steroid use.
Palpation: Feel for the suprasternal notch to cricoid distance which
should be about 3cm/3 finger breadths but can be reduced in hyper
expansion; and reduced chest expansion.
Percussion: Loss of normal heart and liver dullness due to hyper
expansion, the chest may be hyper-resonant.
Auscultation: Polyphonic expiratory wheeze, prolonged expiratory
phase.
Classic cases:
Alpha-1-anti-trypsin deficiency: Young patient, non-smoker, family
history of emphysema/bronchitis (autosomal dominant), icteric with
hepatomegaly, predominantly lower lobe, panacinar emphysema (vs
smoking where it is centrilobular-panacinar).
Coal workers pneumoconiosis: Coal workers tattoos due to
pigmentation within scars and at sites of abrasions, centrilobular
emphysema.
Associated signs:
Actively smoking: Tar staining, odour of cigarettes, cigarettes at
bedside.
Steroid use: Purpura, cushingoid appearance, proximal myopathy.
Malignancy: Cachexia, lymphadenopathy, monophonic wheeze etc.
Cardiac failure with pulmonary oedema, extrinsic allergic alveolitis,
interstitial lung disease.
Bedside tests: PEFR, ECG (right heart strain), ABG (hypoxia,
hypercapnia, acidosis), sputum sample (for MCS and culture).
Bloods: FBC (anaemia, polycythaemia, high white cell
counts), CRP/ESR (markers of inflammation and infection) and consider
special tests such as alpha-1-anti-trypsin level (if early onset, minimal
smoking or family history).
Imaging: Chest radiograph (hyperexpansion, bullae, r/o co-existing
infection, pneumothorax or neoplastic process), CT thorax (pre-surgery,
if severity of symptoms not explained by severity of COPD on
spirometry), ECHO (to assess for cor pulmonale).
Special tests: Spirometry (obstructive defect with FEV1:FVC <70%, %
FEV1 stratifies severity for treatment into >70% mild, 50-70%
moderate, 30-50% severe, <30% very severe), serial home PEFR (to
confirm no asthma).
Referral:
To respiratory, consider if inpatient assessment is required, may require
palliative care or smoking cessation referrals, community respiratory
nurses.
Management:
Conservative: Smoking cessation (NRT, buproprion, varenicline), advise
pneumococcal and annual influenza vaccination in addition to routine
vaccinations of childhood, pulmonary rehabilitation, respiratory
physiotherapy (active cycle breathing), inhaler technique and consider
spacer, address co-morbidities including depression, dietician (BMI <20
or >25).
Medical: SABA, SAMA, LABA, LAMA, combination therapy with steroid if
FEV1 <50% or not symptomatically controlled by the former, nebulisers,
oral slow release theophylline, mucolytic therapy, home O2 for at least
15 hours a day (if x2 ABG, >3 weeks apart, when well, show PO2 <7.3 or
7.3-8 but with complications such as pulmonary hypertension,
polycythaemia, nocturnal hypoxaemia, peripheral oedema), diuretics
for cor pulmonale.
Surgical: Bullectomy, lung volume reduction surgery, lung transplant.
Possible questions:
What is the MRC dyspnoea scale? 1-5 from 1 of no symptoms of
breathlessness except on strenuous exercise to 5 too breathless to
leave the house or breathless even when dressing/undressing.
What medications are known to interact with theophyllines and thus
increase the chance of toxicity? Macrolide and quinolone antibiotics
the dose of the theophylline should be reduced and the patient
monitored for signs of toxicity.
What else may trigger theophylline toxicity? Smoking cessation.
What are the signs of theophylline toxicity? Tremor, nausea, vomiting,
diarrhoea, confusion, dizziness, seizures, cardiac arrythmias.
What metabolic abnormalities develop in theophylline
toxicity? Hypokalemia, hypophosphatemia, hypercalcaemia,
hyperglycaemia, and acidosis.
Lung Cancer
Scenarios: Weight loss, cough, haemoptysis, chest pain, palpable lumps,
hoarse voice, weakness.
Possible examination findings: When examining remember that there
may be a dual diagnosis for example, it is not unusual to find features
consistent with COPD in patients with lung cancer due to the
association with smoking.
Inspection: Cachetic with hoarse voice, clubbing, tar staining,
hypertrophic pulmonary osteoarthropathy, wasting of the small
muscles of the hand, miosis/ptosis/anhidrosis (Horners syndrome),
conjunctival pallor, mediastinoscopy scar, pleural drain and VATS scars,
thoracotomy scar, tattoo radiation marks, dilated and congested veins
on anterior chest wall and face.
Palpation: Reduced chest expansion related to pleural effusion, large
mass, collapse, lobectomy, pneumonectomy; trachea may be deviated
away (paratracheal mass, large effusion) or towards (collapse,
pneumonectomy) the lesion.
Percussion: Reduced percussion note for reasons as above.
Auscultation: Crackles, monophonic wheeze, reduced air entry very
variable depending on site, treatment, stage etc.
To complete my examination I would like to
Know the oxygen saturations and temperature.
Measure a peak expiratory flow.
Examine the sputum pots.
Examine for any features of extra-pulmonary involvement by palpating
the spine and liver, and performing a neurological examination of the
arms, legs and cranial nerves.
Differential diagnosis: Similar clinical signs could potentially be
explained by bronchiectasis and infection (including pneumonia, lung
abscess and tuberculosis).
Small cell lung cancer.
Non-small lung cancer: Presence of surgical scars suggests non-small
cell cancer over small cell.
Squamous.
Adeno.
Large cell.
Bronchoalveolar.
Investigations:
Bedside tests: Arterial blood gas (hypoxia), sputum (MCS and
cytology), pleural tap (LDH, protein, cytology, MCS).
Bloods: FBC (anaemia), bone profile (hypercalcaemia of bone infiltration
or paraneoplastic), LFTs (liver metastases), U&Es (hyponatremia of
SIADH, hypokalemia of ectopic ACTH secretion).
Imaging: Chest radiograph (mass, effusion, collapse), computed
tomography of the chest + abdomen + pelvis (staging).
Special tests: Biopsy (lymph node, via bronchoscopy or
mediastinoscopy or VATS or percutaneous needle), spirometry (to asses
fitness for surgery).
Treatment:
Non-pharmacological: Break the diagnosis (or possibility of it)
sensitively, involve lung cancer nurse specialist, sign-post to groups like
Macmillan, consider if advanced care planning and referral to palliative
care teams is required.
Medical: Chemotherapy, radiotherapy, oxygen therapy.
Surgical: Wedge resection, lobectomy, pneumonectomy.
Questions:
What are the typical features of squamous cell lung cancer? Central,
cavitating lesion, often in individuals who smoke (or have in the past),
common paraneoplastic syndromes include hypercalcaemia (ectopic
PTH) and hyperthyroidism (ectopic TSH).
What are the typical features of adenocarcinoma? Peripheral, solid
lesion, often in individuals who have never smoked, also seen in
association with asbestos exposure.
What are the typical features of bronchoalveolar
carcinoma? Production of copious sputum.
What are the typical features of small cell lung cancers? Derived from
endocrine cells (Kulchitsky cells) so paraneoplastic phenomena are
common and include SIADH, ectopic ACTH and Lambert-Eaton
myasthenia syndrome; metastasises early so that whilst being
chemosensitive it is rarely operable or curable.
How would you a manage a patient that presented with SVCO? I would
take a history and examine with a focus on ABCDE and seeking out the
underlying cause managing the patient sitting upright and with
oxygen to maintain saturations. The differential diagnosis including
intraluminal issues (thrombosis +/- intraluminal device), or external
compression (typically by a right sided lung cancer; but also by enlarged
lymph nodes secondary to lymphoma and germ cell tumour, infection,
or solid organ metastases; and aortic aneurysms). If there is
compromise (e.g.: cerebral oedema, laryngeal oedema), the patient can
be given urgent treatment (e.g.: dexamethasone). If the cause is
unclear and no compromise is identified, the priority should be urgent
imaging with CT thorax and obtaining a tissue sample, as steroids and
radiotherapy can reduce diagnostic accuracy. Treatment options then
include steroids, anti-coagulation, chemotherapy for chemosensitive
tumours (e.g.: small cell lung cancer), radiotherapy, or stenting.
What are the risk factors for lung cancer? Smoking, occupational
exposures (asbestos, beryllium), exposure to radioactivity (uranium
mining), and pulmonary fibrosis.
Lung Surgery
Examining a lobectomy:
Inspection: Lateral thoracotomy scar, ribs/clavicle may be pulled in over
the site of surgery.
Palpation: Trachea central (occasionally deviated in upper lobectomies),
apex beat may or may not be displaced.
Percussion: May be dull over the area excised, but there may also be
compensatory hyperinflation giving an increased resonance to the
remainder of the lung on that side.
Auscultation: Reduced AE at area removed, but compensatory
hyperinflation may minimise this.
Examining a pneumonectomy:
Inspection: Lateral thoracotomy scar, flattening of the chest on the
operated side.
Palpation: Trachea deviated towards the pneumonectomy, reduced
chest expansion on affected side, apex beat shifted towards the side of
the pneumonectomy.
Percussion: Dull on the affected side.
Auscultation: Reduced breath sounds on the affected side (if the
trachea has been dragged over you may hear transmitted bronchial
sounds from this).
Examining a lung transplant:
Inspection: Clamshell incision (transverse thoracosternotomy scar),
median sternotomy scar, lateral thoracotomy scar, Cushingoid
(steroids), gum hypertrophy (cyclosporin), hypertrichosis (cyclosporin).
The remainder of the exam depends on whether a single or double
transplant was performed if single, you may have one abnormal lung
(i.e.: with fibrotic changes) and one normal lung; if double, you may
find completely normal palpation, percussion and auscultatory findings.
General: Consider factors like the underlying cause for example if
they are hyperexpanded consider COPD.
Questions:
What are the indications for lobectomy and pneumonectomy? Lung
cancer (almost always non-small cell rather than small cell), solitary
pulmonary nodules, localised bronchiectasis (localised with recurrent
infection or haemoptysis), lung abscess, tuberculosis.
What are the common indications for lung transplant? Obstructive
(COPD, alpha-1-anti-trypsin deficiency), restrictive (pulmonary fibrosis),
supparative (cystic fibrosis, bronchiectasis), vascular (pulmonary
hypertension).
What are the complications of lung transplantation? Infection including
viral agents like HSV and CMV, rejection (very common, with most
experiencing a couple of episodes of rejection in the first 6 months),
immunosuppression and cushings related to immunsuppressant
medications, and bronchiolitis obliterans.
Obesity Hypoventilation Syndrome (OHS)
Also known as the Pickwickian Syndrome.
Scenarios: Snoring, headaches, poor sleep quality, breathlessness,
reduced exercise tolerance, difficult to control blood pressure,
impotence.
Examination of OHS:
Inspection: Obese (predominantly abdominal), peripheral and central
cyanosis, respiratory flap due to hypercapnia, micrognathia, enlarged
tonsils and uvula, increased circumference of the neck.
Complications:
Pulmonary hypertension: Left parasternal heave, loud P2, split second
heart sound.
Cor pulmonale: Raised jugular venous pressure, peripheral pitting
oedema.
Secondary polycythaemia: Palmar erythema, facial plethora.
Weight loss surgery: Apronectomy scar.
There may often be features of obstructive sleep apnoea in the history
too, or evidence of a clear underlying cause such as acromegaly,
hypothyroidism and Cushings.
Congestive cardiac failure.
Other chronic lung disease (e.g: COPD) with steroid use and Cushingoid
features.
Investigations:
Bedside tests: Oxygen saturations (reduced), blood pressure (poorly
controlled), calculate Body Mass Index (for OHS and most cases of
OSA), arterial blood gas (hypoxia, hypercapnia),
electrocardiogram (right heart strain), Epworth sleep score
questionnaire.
Bloods: FBC (secondary polycythaemia), TFTs (hypothyroidism),
assessment of cardiovascular risk with lipids (raised), fasting
glucose (raised).
Imaging: Chest radiograph (other causes of breathlessness including
malignancy and COPD), echocardiogram (right heart strain due to
pulmonary hypertension).
Special tests: Sleep studies including overnight oximetry and full
polysomnography (hypoxia, apnoeas >10s, hypopnoeas if OSA also
present), spirometry (restrictive lung defect).
Treatment:
Non-pharmacological: Education, dietician referral, exercise advice,
DVLA information (stop driving until symptoms controlled), smoking
cessation (support, NRT, varenicline/champix, buproprion/zyban),
reduce alcohol intake, avoid medications that may contribute to
sedation (sedating anti-histamines), mandibular advancement devices.
Medical: Continuous positive airway pressure (CPAP via face or nasal
mask), long term oxygen therapy (LTOT); occasionally modafinil
(stimulate wakefulness).
Surgical: To the upper airways such as uvulopalatopharyngoplasty.
Questions:
What is polysomnography? Done in a sleep lab EEG, EMG, EOG, ECG,
oxygen saturation, body position recording. These are taken together
to look for evidence of respiratory disturbance and whether it is
obstructive at the upper airways or centrally due to reduced respiratory
drive.
What are the complications of obesity? Insulin resistance, hypertension,
hyperlipidaemia, myocardial infarctions, strokes, cancers, arthritis,
thrush (intertrigo), reduced life expectancy.
What are the secondary causes of obesity? Endocrine causes such as
hypothyroidism, Cushing syndrome, hypothalamic disease causing
hyperphagia; or genetic diseases including Prader Willi Syndrome.
What are the diagnostic criteria for obesity
hypoventilation syndrome? PaCO2 >6, BMI >30, sleep breathing
disorder without another explanation for this.
Pleural Effusion
reduced exercise tolerance, productive cough, chest pain.
Examining a pleural effusion:
Inspection: Reduced chest expansion on the affected side, tachypnoeic.
Palpation: Trachea shifted away from the affected side, reduced chest
expansion on the affected side, apex beat shifted away from the
affected side.
Percussion: Stony dull percussion note.
Auscultation: Reduced breath sounds, crackles and/or bronchial
breathing heard at its upper edge, reduced vocal resonance.
Classic cases:
Rheumatoid arthritis: Symmetrical deforming polyarthropathy mainly
presence of immunosuppression, presence of infection, urine dip for
proteinuria.
Malignancy: Cachectic, clubbing, wasting of dorsal interossei,
hypertrophic pulmonary osteoarthopathy (HPOA), Horners syndrome
(miosis, ptosis, anhidrosis), cervical lympadenopathy, mastectomy
scars, lobectomy/pneumonectomy scars.
Empyema: Chest drain in-situ or scar from recent drainage, IV cannula
and IV antibiotics, febrile.
Congestive cardiac failure: Cool peripheries, irregularly irregular pulse,
raised JVP, sacral oedema, basal crepitations, peripheral oedema.
Chronic liver disease: Leukonychia, palmar erythema, easy bruising,
liver flap, jaundice, spider naevi, gynaecomastia, distended abdomen,
sacral and peripheral oedema.
Renal failure: AV fistula, scars for current or previous neck lines, raised
JVP, pericardial rub, basal crepitations, sacral and peripheral oedema,
catheterised.
Pulmonary embolism: Accompanying calf swelling and tenderness.
Yellow nail syndrome: Yellow, slow growing nails with some degree of
onycholysis and very curved, and features of a pleural effusion or
bronchiectasis on the chest, and lymphoedema elsewhere.
Fluid within the pleural space: Exudate (infection which could be
bacterial or mycobacterial, malignancy which could be primary or
secondary, inflammatory conditions like RA), transudate
(heart/liver/renal failure, hypoalbuminaemia secondary to
malabsorption and nephrotic syndrome, hypothyroidism), empyema,
haemothorax, or chylothorax.
Pleural thickening: Pleural plaques due to asbestos exposure or
mesothelioma (note normal vocal resonance).
Mass lesion: Primary bronchial malignancy or secondary.
Fluid within the lung: Pneumonia, pulmonary oedema, pulmonary
haemorrhage.
Raised hemidiaphragm: Collapse, pneumonectomy, phrenic nerve
palsy, diaphragmatic eventeration, subphrenic abscess, mass within the
liver such as metastases.
Bedside tests: ECG (right heart strain), ABG (hypoxia, respiratory failure,
acidosis), obtain a sputum sample (send for MCS and AFBs; cytology to
r/o a neoplastic process), urine dipstick (for proteinuria suggestive of
nephrotic syndrome).
Bloods: FBC (anaemia, high white cell counts, platelet count to ensure
invasive procedures safe), CRP/ESR (markers of inflammation), U&Es
(renal failure), LFTs (liver failure, protein for Lights), LDH (for
Lights), clotting (liver failure, to ensure invasive tests safe); additional
tests depending on suspicion may include blood cultures, ANA, and RF.
Imaging: CXR (size of the effusion, mediastinal shift, co-existent lung
pathology to assist in underlying diagnosis), USS chest (to asses for
septations, to insert drains), CT with contrast enhancement of
pleura (examine underlying lung tissue and contralateral lung,
mediastinal lymphadenopathy, pleural thickening; especially if cause
remains unclear after aspiration).
Special tests: pleural aspiration with a 21G needle and 20ml
syringe (measure LDH, protein, MCS, gram stain and AFBs, cytology; if
non-purulent but infection suspected test pH as <7.2 indicates need for
drain, if oesophageal rupture/pancreatitis suspected test amylase, if
chylothorax centrifuge and test for triglycerides, cholesterol crystals,
cholesterol and chylomicrons, if rheumatoid suspected send glucose),
percutaneous pleural biopsy (if pleural nodularity), thoracoscopy (if
exudative and malignancy suspected), bronchoscopy (if haemoptysis or
bronchial obstruction).
Referral:
Management:
Non-pharmacological: Chest drain insertion if causing respiratory
compromise or if an empyema or haemothorax; in those with
malignant recurrent effusions options include pleurodesis, pleurectomy
and insertion of a long term drain.
Medical: Treatment of the underlying cause, especially true if a
transudate (e.g.: heart failure and diuretics).
Possible questions:
How do you distinguish between a transudate and an
exudate? Traditionally an effusion with a pleural protein of <30g/dL was
a transudate, and an effusion with a pleural protein >30g/dL was an
exudate. Due to the grey area near the threshold, Lights criteria can
also be utilised, especially when the protein is between 25-35g/dL.
What are Lights Criteria? An effusion is an exudate if the pleural fluid
protein divided by serum protein is >0.5, if pleural fluid LDH divided by
serum LDH >0.6, and/or pleural fluid LDH is >2/3rds the upper normal
limit of LDH. Only one criteria needs to be met to meet Lights criteria
for an exudate.
What are the causes of a lymphocyte predominant
effusion? Tuberculosis, malignancy, CCF, or any longstanding effusion.
How much should be allowed to drain at any one time? 1-1.5 litres after
which there is an increasing risk of fluid shifts and subsequent
pulmonary oedema.
Pulmonary Fibrosis
reduced exercise tolerance.
Examining lung fibrosis: You need to ask yourself three questions
Which part of the lung is affected?
Is there a possible underlying cause identified examining peripherally?
Are there any signs of treatment such as steroids?
Are there any signs of complications such as cor pulmonale?
Classic cases:
Rheumatoid arthritis or methotrexate use: Symmetrical deforming
polyarthropathy mainly affecting the small joints of the hands which
spares the distal interphalangeal joints (DIPJs) and is associated with
ulnar deviation and dorsal subluxation of metacarpophalangeal joints
(MCPJs), and nodules on the extensor aspects of the forearm, basal
crepitations. Specific issues to address presence of
immunosuppression, presence of infection, urine dip for proteinuria.
Dermatomyositis: Photosensitivity, gottrons papules, mechanic hands,
heliotrope rash, shawl pattern erythema, proximal myopathy.
Specifically address if there is evidence of a primary malignancy.
Limited Systemic Sclerosis: Sclerodactyly, digital ulcerations secondary
to Raynauds, calcinosis, smooth/shiny/tight skin on hands and face.
Sarcoidosis: Rashes, de- and hyperpigmentation, lupus pernio,
lymphadenopathy, erythema nodosum.
Radiation: Lymphadenopathy, mediastinoscopy scars, radiation tattoo
marks.
Amiodarone: Slate grey skin, photosensitivity, warfarin or easy bruising,
atrial fibrillation or presence of pacemaker/ICD, basal crepitations.
Ankylosing spondylitis: Marked cervical lordosis with exaggerated
thoracic kyphosis, limited movement in the spine, protuberant
abdomen, reduced chest expansion, mid-distolic AR murmur, apical
crepitations; offer urine dip to asses if proteinuria.
Fibrosis patient with single lung transplant: Fibrotic changes on one
side, normal sounds on the other with a thoracotomy scar.
Associated signs:
Steroid use: Purpura, cushingoid appearance, proximal myopathy.
Cyclosporin use: Occasionally used as a steroid sparing agent and causes
gum hypertrophy.
Malignancy: Cachexia, lymphadenopathy, monophonic wheeze etc.
When examining someone it is useful to remember this classification as
it will remind you of the key ones and the areas they affect:
Apical (BREASTS-X): Berylliosis, Radiation, Extrinsic allergic alveolitis,
Ankylosing spondylitis, Sarcoidosis, Tuberculosis, Silicosis, histiocytosis-
X.
Basal (RRAAID): Radiation, Rheumatoid arthritis, Autoimmune Disease,
Asbestosis, Idiopathic pulmonary fibrosis, Drug related (amiodarone,
nitrofurantoin, methotrexate and illicit drugs).
Other causes of crackles: pneumonia, heart failure, bronchiectasis,
malignancy. The crackles of fibrosis do not clear with coughing and tend
to be fine, end inspiratory ones.
However, if asked by the examiner what the causes of ILD are it may be
more helpful to classify them in a neater, more systematic way:
Idiopathic
Iatrogenic: Radiation, medications (methotrexate, amiodarone,
nitrofurantoin, illicit drugs and some chemotherapy agents).
Inhaled toxins: Asbestosis, silicosis, berylliosis, extrinsic allergic
alveolitis.
Infectious: Tuberculosis.
Rheumatological: Rheumatoid arthritis, SLE, systemic sclerosis,
dermatomyositis, sarcoidosis, HLA B27 associated arthropathies, ANCA
associated vasculitidies.
Inherited: Neurofibromatosis, Gauchers disease, tuberous sclerosis,
lymphangioleiomyomatosis.
Bedside tests: PEFR, ECG (right heart strain), ABG (hypoxia, respiratory
failure, acidosis)
Bloods: FBC (anaemia, polycythaemia, high white cell counts), CRP/ESR
(markers of inflammation) and consider special tests such
as autoimmune screen including ANA, RF, ANCA, anti-GBM, anti-dsDNA,
ACE, serum precipitins, CK.
Imaging: CXR (linear or reticulonodular infiltrates, pattern of disease,
honeycombing if severe, BHL in sarcoid and TB, pleural plaques of
asbestos), high resolution CT (diagnostically
pattern/distribution/subtype; prognostically ground glass infiltrates
mean lots of cells and so a process that tends to be steroid responsive,
honeycombing in contrast has a poor prognosis), MRI (occasionally
used for apical imaging).
Special tests: Spirometry (restrictive defect with FEV1:FVC >70%,
reduced TLC and FRC, reduced gas transfer factor and coefficient),
bronchoalveolar lavage (diagnostic asbestos, eosinophils, neoplastic
cells; prognostic lymphocytosis indicates a good response to
steroids), biopsy (bronchoscopy + transbronchial lung biopsy or video-
assited thoracoscopic biopsy or open lung biopsy for histological
analysis).
Referral:
Management:
Conservative: Smoking cessation, stop causative medications and or
occupational exposures, advise pneumococcal and annual influenza
vaccination in addition to routine vaccinations of childhood, consider
long term or ambulatory oxygen therapy.
Medical: Immunosuppression (pred 40mg trial, then consider
continuing or tapering off), steroid sparing agents, traditionally triple
therapy (steroids, azathioprine and NAC) but now moving away from
this (PANTHER trial findings increased mortality and hospitalisations),
pirfenidone (criteria: IPF, FVC 50-80% predicted, started by specialist
team).
Surgical: Single or double lung transplant.
Possible questions:
What is the commonest form of idiopathic pulmonary fibrosis? Usual
interstitial pneumonia (UIP) which shows a sub pleural distribution on
HRCT.
What are the histopathological subtypes of idiopathic interstitial
pneumonias? They can be broadly divided into the types below. The
importance is that they differ significantly in terms of mortality and
treatment options. For example cryptogenic organising pneumonia has
a good steroid response whereas the only option for diffuse alveolar
damage is supportive care.
Usual interstitial pneumonia
Desquamative interstitial pneumonia
Nonspecific interstitial pneumonia
Cryptogenic organising pneumonia
Diffuse alveolar damage
Lymphoid interstitial pneumonia
What is pirfenidone? Immunosuppressant with anti-fibrotic effects
(e.g.: through reducing fibroblast activity) shown to reduce disease
progression and mortality.
*Example presentation: This is an elderly male in whom my presumed
diagnosis is interstitial lung disease. This is suggested by the presence of
clubbing and fine-end inspiratory crepitations heard at the lung bases
which do not alter with coughing. The differential diagnosis of basal
lung fibrosis includes idiopathic fibrosing alveolitis, asbestosis,
autoimmune disorders like rheumatoid arthritis and dermatomyositis,
medications like methotrexate and amiodarone, and radiation induced;
and similar auscultatory findings can be heard in infection and left heart
failure. There was no evidence of respiratory failure. There was a loud
P2 and pitting oedema to the mid calf suggestive of cor pulmonale.
Although the patient is cachectic there are no palpable lymph nodes. To
investigate him further I would like an arterial blood gas to assess
oxygenation, electrocardiogram for right heart strain, and spirometry to
confirm a restrictive lung defect with reduced gas transfer. On the blood
tests I would be particularly interested in an autoimmune screen and
inflammatory markers. The imaging modality of choice would be high
resolution computed tomography of the chest looking for ground glass
shadowing and honey-combing, and I would also request
echocardiography to asses right heart function and pressures. The
diagnosis could be explored further through bronchoalveolar lavage or
lung biopsy. I would counsel him on the diagnosis and signpost to
appropriate support groups, advise smoking cessation and avoidance of
occupational exposures, arrange pneumococcal and annual influenza
vaccination, and consider referral to pulmonary rehabilitation. I would
treat any underlying conditions, and he should receive a trial of steroids,
and be considered for other steroid sparing or anti-fibrotic agents,
infections should be treated promptly, and the need for long term
oxygen therapy considered. Single or double lung transplant is offered
to some patients.
Tuberculosis
Scenarios: Cough, night sweats, fevers, weight loss,
haemoptysis. Patients with TB can be in the examination related to
their initial presentation or long term sequelae of treatment prior to
the advent of successful antibiotic therapy etc.
Classic cases: General points to note are if the patient is cachectic and
has finger clubbing, if there is orange discolouration of eye secretions
or urine in the catheter bag (rifampicin use), and whether there is
kyphosis (Potts disease).
Pleural effusion: Check the area around the safe triangle for chest drain
scars, reduced chest expansion unilaterally, trachea and apex beat
displaced away from effusion (if very large), stony dull percussion note,
reduced air entry, bronchial breathing at the upper edge, reduced vocal
resonance.
Lobectomy: Thoracotomy scar, chest wall retraction, reduced chest
expansion unilaterally, trachea and apex beat (occasionally) pulled
towards site of surgery, dullness to percussion or hyperresonance over
remainder of lung, reduced air entry at site of surgery.
Apical lung fibrosis: Tracheal deviation towards the affected side, fine
crepitations heard at the lung apex.
Local bronchiectasis: Either a traction bronchiectasis in and around
fibrotic areas, or secondary to bronchial obstruction from a granuloma
or enlarged lymph node. Coarse crepitations are heard.
Phrenic nerve crush to paralyse ipsilateral diaphragm: Scar superior to
the clavicle in the supraclavicular fossa, reduced chest expansion on
affected side, dull percussion note at the base, reduced air entry at the
base.
Thoracoplasty: Chest wall deformity, absence of a section of ribs,
trachea and apex (occasionally) pulled towards affected area, reduced
chest expansion on affected side, dull percussion note, reduced air
entry.
Induced pneumothorax: Scarring in the safe triangle from recurrently
inducing pneumothoraces.
Plombage: Inert objects inserted into the pleural cavity to compress
adjacent lung variable findings but likely dull percussion note,
reduced air entry and reduced chest expansion.
Investigations:
Bedside tests: Weight (as a baseline, to estimate weight loss, for
dosing), fluid samples for ziehl nielssen/auramine staining and
culture (sputum, early morning urine).
Bloods: FBC (anaemia), CRP/ESR (raised), LFTs (rifampicin, isoniazid and
pyrazinamide are hepatotoxic), virology (to asses for HIV co-infection).
Imaging: Chest radiograph (Apical fibrosis, consolidation, cavities,
collapse; hilar lymphadenopathy, Ghon focus, Rankes complex; exclude
alternatives like aspergilloma within an old TB cavity), CT thorax (more
detailed than CXR).
Special tests: Bronchoscopy and bronchalveolar lavage (microbiological
samples), lymph node biopsy (histological samples for microscopy and
culture).
Questions:
What is the difference between
Drug resistant TB? Resistant to one of the anti-TB therapies.
Multi-drug resistant TB? Resistant to at least rifampicin and isoniazid.
Extremely drug resistant TB? Resistant to isoniazid, rifampicin,
fluroquinolone and at least one of the injectable second like agents like
amikacin.
What is a Ghon focus and a Rankes complex? A Ghon focus is a
tuberculoma within the lung as part of primary TB which is known as a
Ghon complex if associated with hilar lymphadenopathy. If these then
progress to undergo calcification they are known as Rankes complex.
What stages of pulmonary TB are there? Broadly they can be divided
into latent and active, with the later divided into primary and post-
primary/re-activation.
What was the theory behind old surgical treatments for TB? To collapse
the affected lobe and thereby reduce oxygenation to the TB microbes
however, TB can survive in low oxygen environments.
What is the difference between
Mantoux? Tuberculin injected intradermally to induce a type IV delayed
hypersensitivity reaction over the following 24-48 hours. The size of the
reaction and history of past vaccination are then taken into
consideration when interpreting the result. False negatives can occur in
the presence of immunusuppression (e.g.: advanced HIV) and
sarcoidosis.
Quantiferon testing? Measures the interferon gamma response to
tuberculosis antigens which are not present in the BCG vaccine and is
more sensitive so less likely to cause a false negative in an
immunosuppressed individual.
Cardiology
Inspection at end of bed: Oxygen, GTN.
Auscultation at end of bed: Listen if you can hear prosthetic clicks.
Inspection of the patient: Think:
Patient age and gender.
Eg: in the absence of scars a young-middle aged patient should make
get you ready for ASD, VSD, PDA, HOCM, MVP and bicuspid aortic valve.
Presence of scars.
Eg: With venous and arterial harvesting scars at least suggests CABG +/-
valve replacement in elderly, whereas in the young should raise
suspicion of complex congenital heart disease.
If valve replacement suspected remember that older patients may well
have tissue valves, whereas young patients will have metallic valves
(unless a young woman planning childbirth).
Dysmorphic features.
Low set ears think Turners or Noonans.
High set ears think Williams.
Repaired cleft palate think DiGeorge.
Visible neck pulsations.
Eg: Corrigans, prominent arterial pulsations of PDA, or giant V waves.
Hands: Arachnodactyly, triphalangeal thumb (Holt-Oram
Syndrome), splinter haemorrages, oslers nodes, janeway lesions; then
feel for clubbing, quinckes sign, capillary refill.
Wrist: Radial pulse (rate and rhythm), radio-radial delay.
Arms: Brachial pulse (volume and character), collapsing pulse (feel with
three fingers, place arm down so it fills, feel very lightly over the radial,
support elbow with your hand behind it, then lift the arm up straight,
feel for the collapse, and then drop it down again where the pulse with
disappear again), radial hypoplasia (Holt-Oram Syndrome), request a
blood pressure noting the pulse pressure.
Eyes: Exophthalamos (Graves), xanthelasma, corneal arcus, conjunctival
pallor, dislocated lenses/ectopia lentis.
Face: Malar flush, bobbing of the head called Mullers sign.
Mouth: High arched palate, central cyanosis, mullers sign/pulsating
uvula, dentition.
Neck: Inspect the JVP (look tangentially i.e.: leaning across the patients
midline and looking to your left), utilise hepatojugular reflux, feel the
carotid pulse (volume and character), look for scars from previous or
current neck lines or tunnelled lines (suggestive of long antibiotic
courses, or a possible embolic source of infection for, infective
endocarditis), plucked chicken skin (pseudoxanthoma elasticum).
Inspect the precordium: Scars (midline sternotomy, left sided
thoracotomy scars), pacemaker, visible apex beat, abnormal pulsations,
gynaecomastia (digoxin, spironolactone).
Palpation at the precordium: Palpate for the apex beat (place 1 finger
at the most distal point and count down to demonstrate to the
examiner if not palpable, check over on the right hand side), feel for a
right ventricular heave at the left sternal edge (elbow out and
perpendicular to the chest) and feel for thrills (palpable murmurs) or
palpable 2nd heart sounds (pulmonary hypertension or an aortic valve
replacement).
Auscultation of the heart: Palpate at the carotid pulse for timing, and
then listen with the diaphragm at the four areas; note if you can hear
the 1st (closure of mitral and tricuspid) and 2nd (aortic and pulmonary)
valves, if there is one noise or if there is a split sound, if the sound is
prosthetic in nature, if there are added sounds (Grade 1 murmur = very
soft, only just audible, 2 = soft but immediately audible, 3 = clearly
audible, no thrills, 4 = clearly audible with thrills, 5 = audible with
stethoscope barely touching the chest, 6 = heard without stethoscope).
Then with diaphragm at axilla. Then switch to bell at mitral area. Roll to
left and listen with bell at mitral. Sit forward and listen with diaphragm
at lower left sternal edge in expiration. Listen with bell or diaphragm at
carotids. Stay in that position.
Auscultation of the lungs: Listen at the lung bases posteriorly.
Palpate: For sacral oedema, for peripheral oedema.
Inspect the legs: For CABG scar.
Complete the examination:
Palpate the peripheral pulses.
Measure their temperature.
Examine the fundi.
Obtain a urine dipstick for protein, blood or glucose.
Perform an ECG.
The JVP (internal jugular pulse)
A wave for Atrial contraction, X descent for atrial relaXation, C wave for
triCuspid Contraction, V wave for right Ventricle contraction in the
context of a filling right atrium, Y descent is atrial emptying. Examine
with patient at 45 degrees, head turned to left, looking between the
sternal and clavicular heads of the sternocleidomastoid, ideally with left
hand shining a pen torch from the back tangentially across the right
side of the neck, and the right hand feeling the patients carotid pulse
on the left. In terms of timing it the C wave that should be
corresponding to carotid pulse/systole/closure of tricuspid and mitral
valves, the A wave falls immediately before this, and the V wave a bit
longer after this. The peaks of a and v waves are usually about equal. In
health, the JVP falls during inspiration. Abnormalities are either due to:
Hypovolemia
Impaired cardiac filling
Giant A waves: Tricuspid stenosis, pulmonary stenosis, pulmonary
hypertension, restrictive cardiomyopathy. Uniform in height and occur
during each cardiac cycle.
Cannon A waves: When atria contract against a closed tricuspid valve
(i.e.: complete heart block, single chamber cardiac pacing, normal atrial
contraction at time of a ventricular ectopic). Variable in height and
occur sporadically.
Absent A waves: Atrial fibrillation.
CV waves: Severe tricuspid regurgitation when the C and V waves
merge together in time with the carotid pulse.
Brisk X and Y descents: giving a flicking quality suggest constrictive
pericarditis or right ventricular failure.
Kussmals sign: JVP rises during inspiration in constrictive pericarditis.
Absent Radial Pulse
Scenario: You start the exam and realise that one of the radial pulses is
absent or diminished.
Your next steps:
Compare the capillary refill times on each side, checking for BM testing
pricks on the fingertips at the same time, and request a blood pressure
in both arms.
Look carefully at the skin overlying the radial artery on that side to see
if there are scars from previous interventions (e.g: ABGs, arterial lines,
radial artery harvest for CABG). If not then scan up the arm, over the
shoulder and clavicle for scars or evidence of trauma. If still no sign look
carefully at the thorax itself for scars indicating previous cardiothoracic
surgery.
Proceed with cardiovascular examination as normal brachial artery
palpation; inspect eyes, face, mouth; carotid artery palpation; and
examine the heart itself listening for murmurs and added sounds that
might suggest underlying TOF or co-arctation (unless repair done the
latter would normally cause radio femoral delay but some cases involve
a co-arctation proximal to the origin of the left subclavian so can affect
it on occasion).
With the patient sitting forward listen for bruits at the carotid arteries
(suggestive of atherosclerosis) and listen at the lung bases. Whilst you
have them there also listen between the scapulae for additional
murmurs and bruits.
Finish off by checking for peripheral oedema and moving on to
auscultate the subclavians, abdominal aorta, renal arteries, femoral
arteries and feel for radio-femoral delay.
Differential diagnosis: If symmetrically difficult to feel consider low
output states as occur in heart failure.
Anatomical: Unusual anatomical course, congenital absence, external
compression of proximal artery by cervical rib, lymphadenopathy, mass
lesions.
Iatrogenic: Local trauma like ABG, arterial line, or radial artery harvest;
or issues proximal to this related to surgical correction of cardiac
defects (e.g.: tetralogy of fallot blalock procedure, subclavian patch
repair of co-arctation of the aorta).
Atherosclerosis: Smoking, high BMI, hypertension,
hypercholesterolaemia, diabetes.
Embolism: Atrial fibrillation.
Vasculitis: Giant cell arteritis, Takayasus arteritis.
Investigations:
Imaging: USS doppler (to asses sites of obstruction, look for evidence of
wall oedema indicative of inflammation), MR arch aortogram (detailed
information on the aortic arch if diagnoses like subclavian stenosis
suspected).
Questions:
What is the subclavian steal phenomenon? Occurs when there is
stenosis or occlusion of the subclavian artery proximal to the origin of
the vertebral artery so that blood ends up diverting up the carotids and
then back down the vertebral artery to reach the remaining vasculature
in the arm. This diverts blood away from the brain causing neurological
symptoms on using the affected arm this could be sensory, visual,
auditory, olfactory or a total collapse. There may also be accompanying
features like arm claudication on use.
Aortic Regurgitation
Scenarios: Shortness of breath, angina, syncope, dyspnoea.
Examination of aortic regurgitation: On general inspection take note of
any features that indicate an underlying connective tissue disorder or
rheumatological disease. Look at the hands for Quinckes sign and asses
for a collapsing pulse. Inspect inside the mouth for the pulsating uvula
of Mullers sign, and check if the head is bobbing as part of De Mussets
sign. Looking at the neck, asses for prominent carotid pulsations
suggestive of Corrigans sign. Feel for the displaced apex. Auscultate for
an early diastolic murmur heard loudest at the lower left sternal edge
in expiration. Check for additional features including heart failure
(raised jugular venous pressure, 3rd heart sound, bi-basal crepitations,
peripheral oedema) and infective endocarditis (see below). If you are
confident about the diagnosis and wish to elicit further features,
proceed to check for Duroziers sign (systolic murmur over femorals
with proximal compression and diastolic murmur with distal
compression) and Traubes sign (pistol-shot femorals with systolic and
diastolic sounds).
Classic cases:
Connective tissue disorders: Marfans (tall, arachnodactyly,
hypermobility, high arched palate), ehlers danlos (hypermobility,
hyperextensible skin, fish mouth scars), psuedoxanthoma elasticum
(plucked chicken skin appearance at the neck, axillae and antecubital
fossae), osteogenesis imperfecta (blue sclerae though these can be
seen in the other three conditions as well, bony deformities from prior
poor healing of fractures).
Ankylosing spondylitis: Exaggerated thoracic kyphosis and loss of
lumbar lordosis with compensatory extension of the neck and limited
neck movements. If found, tell the examiner that you would like to
enquire about features of inflammatory joint pain and uveitis,
auscultate the lung apices for fibrosis and dipstick the urine for
proteinuria of amyloidosis.
Infective endocarditis: Splinter haemorrhages, clubbing, leukonychia,
oslers nodes, janeway lesions, pale palmar creases, conjunctival pallor,
long lines for antibiotics, fever, evidence of previous surgery.
Syphilis: Argyll robertson pupil (small, irregular, depigmentation of the
iris, accommodates but does not react to light).
Mixed valve disease: Listen for an accompanying ESM radiating to the
carotids of aortic sclerosis. If this is the case you will need to decide
which is the predominant lesions and bear in mind that even if the
absence of a stenotic valve you can get a flow murmur across the aortic
valve in the presence of regurgitant valves. The latter would not radiate
and gives a to-and-fro quality to the sound.
There is a similar murmur in pulmonary regurgitation either as a
primary phenomenon or as a Graham Steell murmur secondary to
pulmonary hypertension. The differential for an underlying cause of
aortic regurgitation is:
Degenerative: Bicuspid valves, age and factors like hypertension.
Infective: Infective endocarditis, rheumatic fever, tertiary syphilis.
Rheumatological: HLA B27 associated arthopathies like ankylosing
spondylitis.
Connective tissue disorders: Marfans, ehlers danlos, psuedoxanthoma
elasticum, osteogenesis imperfecta.
If acute, think of dissection, infective endocarditis and prosthetic valve
failure.
Investigations:
Bedside tests: Blood pressure (looking for a wide pulse pressure) and
ECG (conduction blocks, LVH criteria), and then for features of infective
endocarditis with temperature, urine dipstick (haematuria, proteinuria),
and fundoscopy (Roth spots, Beckers sign of retinal pulsations).
Bloods: FBC (anaemia, inflammatory markers), CRP/ESR (raised in
infective endocarditis), treponemal tests (specific like EIA or TPHA, and
non-specific like the VDRL and RPR).
Imaging: Chest radiograph (pulmonary oedema, pleural effusions,
kerley B lines), echocardiogram (left ventricular function, valve
anatomy, aortic root size, vegetatios).
Special tests:
Management:
Non-pharmacological: Education.
Medical: Manage co-existing heart failure, manage underlying cause
(e.g.: antibiotics for infective endocarditis, penicillin for syphilis).
Surgical: Aortic valve replacement (biological or mechanical).
Questions:
What might be the explanation if you heard a mid-diastolic murmur at
the apex in a patient in whom you suspect aortic regurgitation? Austin
flint murmur.
What is the differential diagnosis of Corrigans sign? Corrigans sign
occurs because you are visually seeing the collapsing pulse within the
carotid arteries and can be seen patent ductus arteriosus and other
causes of a hyper dynamic circulation (e.g.: sepsis, thyrotoxicosis,
anaemia). A rarer cause of prominent pulsations here is due to
collateral flow in co-arctation of the aorta. Large pulsations within the
jugular venous system can mimic this such as the large CV waves in
tricuspid regurgitation, cannon A waves in heart block and giant A
waves tricuspid stenosis and restrictive cardiomyopathies. Remember
that pulsations within the venous system will not be palpable and can
be obliterated by pressure.
Which features on examination would make you think that the patient
had severe aortic regurgitation? Features of heart failure, wide pulse
pressure, and presence of an austin flint murmur, soft S2.
What are the indications for valve replacement? Acute aortic
regurgitation, symptomatic with heart failure, asymptomatic but aortic
root diameter >50mm or left ventricular end-systolic diameter 55mm
or ejection fraction <50%.
How would you monitor a patient with Marfans? Echocardiogram
looking at root diameter and valve function, consider eye referral, beta
blockers to prevent aortic root widening, then annual echocardiogram
surveillance following that with surgical referral for aortic valve
replacement and aortic root repair (when root >5cm).
What are the specific elements to examining a patient with
Marfans? Check how tall they are, ask them to spread their arms out
wide to demonstrate disproportionately wide arm span, ask them to
place their thumb in their first (it may exceed the ulnar side of the
hand) and to wrap their thumb and little finger round their wrist (they
will overlap), ask them to look quickly from one side to another to see
the shimmering/shaking of the iris (iridonesis) in lens dislocation.
Mention relevant additional findings like kyphoscoliosis or chest wall
abnormalities.
How does homocysteinuria differ from Marfans? Similar phenotype, but
inherited autosomal recessively, not associated with aortic root
disease, but is associated with learning difficulties and recurrent aortic
and venous thromembolic events. In addition, lens dislocation tends to
be upwards in Marfans but downwards in homocysteinuria.
What is the differential diagnosis of Marfans
syndrome? Homocysteinuria and MASS syndrome (Mitral valve
prolapse, mild non-progressive Aortic root dilatation, Skin and Skeletal
manifestations).
What is the mode of inheritance of Marfans Syndrome? Autosomal
dominant with complete penetrance but variable phenotype, due to
fibrillin-1 defect, diagnosed using the Ghent criteria.
Aortic Stenosis
Possible scenarios: Breathlessness, syncope, palpitations, orthopnoea,
PND, chest pain.
Examination of aortic stenosis: Palpate the pulse at the brachial/carotid
and note that it is slow rising and of small volume, request a BP which
may have a narrow pulse pressure, feel for a heaving but undisplaced
apex and thrill in the aortic area. Listen for the heart sounds the 2nd
heart sound may split (reversed) with A2 after P2 because of the
stenotic valve taking a long time to close (although the magnitude of
the split will vary will respiration), or it may be very soft/inaudible
because of the slow leaflet movement. There may be an opening click
in systole just before the murmur starts, or an additional sound just
before S1 which signifies S4 due to the stiffened ventricle. Opening
clicks tend to be quite sharp, whereas S4 tends be a very low frequency
sound. Then listen to the murmur an ejection systolic murmur which
is loudest in aortic area on expiration and radiates to the carotids. Then
asses for complications such as heart failure (creps at lung bases, sacral
oedema, peripheral oedema, S3), anaemia (angiodysplasia), and
features of infective endocarditis (oslers nodes, janeway lesions,
splinter haemorrhages). To complete my examination I would like to:
Enquire about symptoms of angina, dyspnoea and syncope.
Palpate the peripheral pulses.
Get a blood pressure looking for a narrow pulse pressure.
Get an ECG looking for left ventricular hypertrophy or conduction
blocks.
Obtain a temperature, fundoscopy for Roth Spots, and urine dipstick for
haematuria and proteinuria in case of infective endocarditis.
Classic cases:
Co-arctation of the aorta: There may be physical features of Turners or
neurofibromatosis, notching along the inferior surface of the ribs from
collaterals, radio-femoral delay, hypertension, bruits over the scapula,
left infraclavicular area and over the thoracic spine posteriorly.
Heydes syndrome: Aortic stenosis, angiodysplasia, anaemia.
Williams syndrome: Elfin facies, cognitive dysfunction.
Aortic stenosis (senile calcification, underlying bicuspid valve,
rheumatic heart disease).
Aortic sclerosis or flow murmur.
Pulmonary stenosis or mitral regurgitation.
Atrial septal defect: Fixed splitting of 2nd heart sound with a systolic
murmur over the pulmonic valve due to increased blood flow through
the septum into the right heart (loudness of murmur unaffected by
respiration as defect equalises pressures anyway).
Hypertrophic obstructive cardiomyopathy, ventricular septal defect.
Bedside tests: ECG for conduction problems (calcified aortic valve,
endocarditis) and left ventricular hypertrophy, urine dipstick for
haematuria (infective endocarditis), fundoscopy (Roth spots in infective
endocarditis), observations including a temperature (infective
endocarditis).
Bloods: FBC, CRP and ESR for anaemia and raised inflammatory markers
suggestive of infective endocarditis, U&Es to asses renal function in the
context of cardiac and anti-hypertensive medications.
Imaging: Chest radiograph (left sided heart failure with pulmonary
oedema, cardiomegaly, effusions, kerley B lines, calcified valve);
echocardiogram (confirm diagnosis, asses severity, asses left ventricular
function).
Special tests: Coronary angiogram (directly measure pressure gradients
across the valve, asses for co-existing coronary artery disease that could
cause similar symptoms and/or be managed with a CABG at the same
time as valve replacement).
Management:
Conservative: Educate the patient, ask them to report symptoms of
angiona/syncope/dyspnoea, arrange regular follow-up and
echocardiography.
Medical: Manage cardiovascular co-morbidities and complications such
as heart failure; I would be cautious with ACEi and GTN in those with
severe aortic stenosis as they could cause profound hypotension by
reducing after load.
Surgical: Balloon valvuloplasty, valve replacement (mechanical or
biological), Ross procedure (pulmonary valve autograft, with the
patients pulmonary valve replaced by a cadaveric valve primarily used
in children) or transcatheter aortic valve implantation (TAVI).
Possible questions:
What are the clinical indicators of severe aortic stenosis? Narrow pulse
pressure, quiet S2, presence of S4, heaving apex or palpable thrill, late
peaking of murmur, and bi-basal crepitations on auscultation of the
lungs.
What are the indications for valve replacement in aortic
stenosis? Surgical intervention is typically advised in a patient who is
symptomatic with angina/dyspnoea/syncope, or those with
deterioration in their ejection fraction to <40% or gradient >50mmHg
or valve area <1cm2.
What might be the explanation if you heard a pan systolic murmur at
the apex in a patient in whom you suspect aortic stenosis? Co-existent
mitral valve disease (e.g.: rheumatic heart disease) or Gallavardin
phenomenon. The latter is due to the dissociation of the murmur of
aortic stenosis, with the harsh bit heard at the aortic area and the
musical bit transmitted through to the apex. It is a systolic murmur at
the apex which does not radiate to the axilla.
How does being in atrial fibrillation change the JVP and the heart
sounds? Absence of atrial contraction means there will be no a wave
in the JVP and no fourth heart sound to auscultation.
What are the key features of Williams Syndrome? Microdeletion of
genes on chromosome 7 which can show autosomal dominant
inheritance but is typically a de novo mutation. It causes
hypercalcaemia and supravalvular aortic stenosis. Phenotypic features
include short stature, stellate pattern on the iris, depressed nasal
bridge, prominent lips, and small chin. They are often noted to have
well developed social and language skills.
*Example presentation: To complete my examination I would like to
have a blood pressure, and palpate the peripheral pulses including
feeling for a radio-femoral delay, I would also like to assess for features
of infective endocarditis with a temperature, urine dipstick for
proteinuria and haematuria, and by performing fundoscopy for Roth
Spots. My presumed diagnosis for this woman is aortic stenosis. This is
demonstrated by the presence of an ejection systolic murmur heard
loudest at the aortic area in expiration which radiates to the carotids.
She is in sinus rhythm at 88 beats per minute. Evidence of severe aortic
stenosis include the presence of a slow rising, small volume pulse, quiet
S2 and heaving apex but I could not hear an S4 or feel an aortic thrill.
With regards to complications she has bibasal crepitations indicating
left heart failure, but the jugular venous pressure is not raised and there
is no peripheral oedema. There are no peripheral stigmata of infective
endocarditis. A similar murmur can occasionally be heard in aortic
sclerosis, flow murmurs and pulmonary stenosis, but in totality these
are less likely. The underlying cause of her aortic stenosis could be
degenerative aortic valve disease with age, bicuspid valve or previous
rheumatic fever as a child. To investigate her further I would like to take
a history in particular asking about syncope, angina and dyspnoea and
request an electrocardiogram for left ventricular hypertrophy, left axis
deviation and conduction abnormalities. On her blood tests I would like
a full haematological and biochemical profile being particularly
interested in her haemoglobin, cardiovascular risk factors including
lipids and HbA1c and her renal function as it may affect the
management of co-morbidities such as heart failure. The
imaging modality of choice would be an echocardiogram with critical AS
defined as a valve area of <0.6cm2 and a gradient >40mmHg and
additionally looking for accompanying valve lesions, vegetations and
left ventricular function. Non-pharmacological measures include
counselling on the disease and arranging regular review. Medical
management is focused on optimising co-morbidities such as heart
failure and hypertension with cautious use of medications that
reduce afterload, such as ACE-inhibitors and GTN. Surgical corrective
options are primarily open surgery for mechanical or biological valve
replacement, or transcatheter aortic valve implantation (TAVI).
Aortic Valve Replacement
Examination of an aortic valve replacement:
Inspection: Sternotomy scar (traditional), upper mini-
sternotomy (about 4cm vertical scar over upper sternum), mini-
thoracotomy (horizontal 4cm scar below right nipple).
Auscultation: If metallic metallic second S2, which may be associated
with an opening click and an ESM; if both sounds loud consider a starr-
edwards (ball and cage). If tissue there may just be an ESM
representing a flow murmur.
Extra points: Evidence of valve failure includes early diastolic murmur of
atrial regurgitation and displaced + thrusting apex, prominent carotid
pulsations, collapsing pulse or accompanying features of heart failure.
Also comment on after-issues with anticoagulation (easy bruising,
conjunctival pallor, pale palmar creases, jaundice if haemolysis) and
endocarditis (splinter haemorrhages, janeway lesions, osiers nodes,
clubbing). Bear in mind before-issues (i.e.: issues that developed
during the lag time to surgery) like left ventricular hypertrophy (heaving
non-displaced apex) or pulmonary hypertension (loud S2, parasternal
heave, pan-systolic murmur and raised JVP with giant systolic V waves
and parasternal thrill from tricuspid regurgitation, peripheral oedema).
If you cannot deduce an underlying cause I cannot deduce the
underlying indication for valve replacement in this patient, and so I
would like to explore this further by taking a history; specifically
addressing whether there is a history of rheumatic fever, infective
endocarditis, or connective tissue disorders. In their absence the most
likely cause would be senile degeneration of the valve or a bicuspid
valve.
Classic cases:
Common associations: Rheumatic heart disease
Differential diagnosis: The underlying indication for aortic valve
replacement includes:
Bedside tests: ECG (conduction abnormalities, LVH criteria), urine
dipstick (proteinuria and haematuria if IE), fundoscopy (Roth spots of
IE).
Bloods: FBC (anaemia), INR (to ensure therapeutic)CRP/ESR (infective
endocarditis),
Imaging: CXR (heart failure), ECHO (valve and ventricular function).
Referral:
Determine if patient can be managed as an inpatient or an outpatient,
and whether there are any features that would warrant expediting
routine cardiology outpatient clinic dates.
Management:
Medical: Treat co-morbidities like heart failure
Surgical: Valve replacement (mechanical, biological, bioprosthetic).
Possible questions:
What are the complications of valve replacement? Early and late valve
associated infective endocarditis, prosthesis failure (leaks,
displacement), thomboembolism, bleeding related to anticoagulation,
jaundice related to haemolysis across valve.
Which patients should consider non-mechanical valves? Those in whom
anti-coagulation is contraindicated, who have a short life expectancy,
and in older patients.
What are the diagnostic criteria for infective endocarditis? The
Modified Duke Criteria comprise major and minor criteria. You need 2
major criteria OR 5 minor criteria OR 1 major and 3 minor criteria to
diagnose IE. Major criteria are x2 positive blood cultures with typical
micro-organisms or positive ECHO findings such as abscesses,
dehiscence, and oscillating masses. Minor criteria include positive ECHO
or blood culture findings not meeting the major criteria, pre-disposing
illnesses such as IVDU or underlying lung condition, immunological
phenomena (glomerulonephritis, Oslers nodes, Roth spots, positive RF),
vascular phenomena (splinter haemorrhages, janeway lesions, septic
emboli) and fever.
What are the common organisms implicated in IE? Bacterial include
staphylococcus aureus, staphylococcus epidermis, streptococcus
viridans, and streptococcus bovis; or more rarely due to HACEK
organisms or fungal organisms like candida.
Which valve is most commonly affected by IE? Mitral then aortic.
Atrial Septal Defect
Scenarios: Palpitations, young person with a stroke.
Examining an atrial septal defect: It may be a relatively young patient
and you may be able to feel the irregularly irregular pulse of atrial
fibrillation. Fixed splitting of the 2nd heart sound which does not vary
with respiration and a systolic murmur across the pulmonary valve due
to increased blood flow through the right side of the heart (not because
of flow through the ASD itself). The latter may even cause a thrill over
the area or palpable click as the pulmonary valve opens. They are at risk
of heart failure (right raised jugular venous pressure, left parasternal
heave, ankle and sacral oedema, may even have a murmur across the
tricuspid valve or PR may ensue due to Graham Stell murmur; left
heaving apex, bibasal crepitations on auscultation of the
lungs), paradoxical emboli (hemiparesis, intracerebral abscess)
and infective endocarditis (splinter haemorrhages, clubbing, oslers
nodder, janeway lesions). Tell the examiner as you finish if this is an
ASD with a left to right shunt, or a right to left shunt (Eisenmengers
syndrome clubbing, cyanosis).
Classic cases:
Holt Oram Syndrome: Range of upper limb deformities (triphalangeal
thumb, hypoplastic thumb, polydactyly, radial hypoplasia), ASD, heart
block.
Downs Syndrome: Short stature and neck, single transverse palmar
crease, inturning of 5th finger, low set ears, epicanthal folds and
upslanting palpebral fissures; AV septal defects, PDA, or TOF (the latter
could give a PSM of the VSD, and an ESM over the pulmonary valve due
to PS).
Turners Syndrome: Female, short stature, webbed neck, short 4th
metacarpals, cubitus valgus, high arched palate.
Iatrogenic: Can occur secondary to transeptal puncture during balloon
mitral valvuloplasty so look for scars and listen for murmurs that
indicate mitral valve disease.
Investigations:
Bedside: Electrocardiogram (RBBB and RAD suggests secundum, RBBB
and LAD suggests primum).
Bloods: FBC (polycythaemia).
Imaging: Echocardiography (Doppler flow to study movement across
the defect, right heart pressures and function, association valvular
defects, may need TOE to fully assess).
Special tests: Cardiac catheterisation (step up in oxygen saturations in
the right mid atrium).
Management:
Non-pharmacological: Education and advice.
Medical: Treat co-existing problems (e.g atrial fibrillation).
Surgical: Repair of the defect (ideally prior to the development of
pulmonary hypertension).
Questions:
What are the different types of septal defects in the atria? Patent
foramen ovale (although this can allow paradoxical emboli to occur
there is not equalisation of atrial pressures so no risk of eisenmengers
etc), ostium secundum ASD (commonest, RBBB + RAD), ostium primum
ASD (defect lower down and may involve defects of mitral valve too
causing MR, associated with Downs syndrome, presents in childhood,
RBBB + LAD), sinus venous ASD, and coronary sinus ASD.
What is Lutembachers syndrome? Association between atrial septal
defect and mitral stenosis. It can arrise either because of co-existent
rheumatic mitral valve disease or because the ASD has developed a
surgical complication of transeptal puncture during balloon
valvuloplasty of the mitral valve.
Co-arctation of the Aorta
Possible scenarios: Hypertension in a young patient, lower limb
symptoms on exercise.
Examining Co-arctation of Aorta:
Inspection: Visible pulsations at sites of collaterals and visibly thrusting
apex, hypo plastic limb development (legs or left arm), prominent
carotid pulsations (may be confused with Corrigans sign of AR).
Palpation: Weak left radial pulse (indicates origin proximal to left
subclavian artery, rarer and tends to present in infancy), radiofemoral
delay (indicates origin distal to the left subclavian artery, commonest),
heaving/thursting apex, systolic thrill.
Auscultation: Bruits over the scapula and left infraclavicular area and at
the site of other collaterals, murmur of the co-arctation (if distal to LSA)
will be loudest over the thoracic spine posteriorly.
Additional features to comment on: Presence of other murmurs
(bicuspid aortic valve, aortic stenosis, aortic regurgitation), corrective
surgery (left thoracotomy scar, reduced left radial pulse), infective
endocarditis, heart failure.
Common associations:
Bicuspid aortic valve: 25-50% of COA have a bicuspid AV listen if you
can hear an opening click and ejection systolic murmur from early
aortic stenosis.
Turners Syndrome: Short female patient with a webbed neck (can just
look broad), cubitus valgus, bifid uvula and high arched palate.
Other left sided heart lesions.
Berry aneurysms, renal tract abnormalities and haemangiomas.
Hypertension (often difficult to treat due to low flow to kidneys driving
the RAS system).
Differential diagnosis of a reduced left radial pulse:
Anatomical: Unusual anatomical course, congenital absence, external
compression of proximal artery by cervical rib, lymphadenopathy, mass
lesions.
Iatrogenic: Local trauma like ABG, arterial line, or radial artery harvest;
or issues proximal to this related to surgical correction of cardiac
defects (e.g.: tetralogy of fallot blalock procedure, subclavian patch
repair of co-arctation of the aorta).
Atherosclerosis: Smoking, high BMI, hypertension,
hypercholesterolaemia, diabetes.
Embolism: Atrial fibrillation.
Vasculitis: Giant cell arteritis, Takayasus arteritis.
Bedside tests: Blood pressure both arms (reduced if origin proximal to
LSA, or LSA used in repair operation), ECG (LVH criteria, p
mitrale), fundoscopy (Roth spots of IE), urine dipstick (proteinuria and
haematuria in IE, dipstick in case of pregnancy), ankle brachial pressure
index (objective assessment of the effects of the co-arctation or
patency of the repair).
Bloods: FBC (anaemia, white cell count for infection), CRP/ESR (raised in
IE), U&Es (to asses end organ damage from hypertension and as
baseline pre anti-hypertensive therapy).
Imaging: CXR (3 shape from bulge of LSA dilation and then bulge from
aortic post-stenotic dilatation, rib notching, evidence of left heart
failure), ECHO (co-arctation, bicuspid AV, AS, AR, associated defects like
VSD, LV function), cardiac MRI (more anatomical information and detail
about the co-arctation, and is the preferred modality for follow-up post
repair).
Special tests: Cardiac catheterisation (pressures, collaterals).
Referral:
Should be under regular review by cardiology and young women should
receive pre-conception counselling and be managed by a
specialist obstetric team.
Management:
Monitor: BP, for IE, heart failure.
Repair: Left subclavian flap repair, resection with end-to-end
anastomosis, patch aortoplasty, balloon angio and stenting.
Questions:
What complications can occur post-repair? Re-coarctation, aneurysms,
dissections.
Ebsteins Anomaly
Scenarios: Dyspnoea, palpitations.
Examination of Ebsteins anomaly: Raised jugular venous pressure with
giant V waves, right ventricular heave, widely split 1st heart sound with
a loud tricuspid component, pan systolic murmur heard loudest at the
lower left sternal edge which is accentuated by inspiration, there may
be 3rd and 4th heart sounds, pulsatile hepatomegaly. Not uncommon
to have associated cardiac defects including atrial septal defect
with fixed splitting of the second heart sound, ejection systolic murmur
loudest at the pulmonary area which does not alter with respiration,
which may progress to Eisenmengers with cyanosis and clubbing).
Determine if they have signs of heart failure or infective endocarditis.
Investigations:
Bedside tests: Electrocardiogram (p pulmonale, RBBB).
Imaging: Echocardiogram (confirm the diagnosis, look for associated
defects).
Special tests: Electrophysiology (to detect and characterise accessory
conduction pathways).
Treatment:
Medical: of arrhythmias and heart failure.
Surgical: Tricuspid valve repair or replacement; palliative approaches
include Fontan procedure (divert blood from right atrium straight
through to the pulmonary artery, bypassing the right ventricle).
Questions:
What is the underlying abnormality in Ebsteins anomaly? Its a
congenital abnormality of the posterior and septal leaflets of the
tricuspid valve resulting in tricuspid regurgitation with a large right
atrium and atrialised right ventricle.
Do you know of any risk factors for Ebsteins anomaly? Maternal lithium
or benzodiazepine use during pregnancy.
What might you not see prominent V waves in tricuspid regurgitation
secondary to Ebsteins anomaly? Because the large right atrium is able
to accept the regurgitant jet from the leaking valve so that it is not
transmitted up into the jugular venous pulse.
What are other causes of tricuspid regurgitation? Most are secondary
to pulmonary hypertension, pulmonary stenosis and mitral stenosis;
other primary causes include infective endocarditis, rheumatic heart
disease, and carcinoid syndrome.
Eisenmengers Syndrome
Scenarios: Shortness of breath, palpitations, fatigue, haemoptysis.
Examining Eisenmengers Syndrome: Be aware that most defects that
progress to Eisenmengers, including large VSDs and patent ductus
arteriosus, result in Eisenmengers at a young age if not corrected. In
contrast, ES can develop in those large ASDs in their twenties and
thirties.
Inspection: Clubbing, hypertrophic pulmonary osteoarthropathy,
peripheral and central cyanosis (in PDA may only affect toes
differential cyanosis), raised JVP with prominent a and/or v waves.
Palpation: Irregularly irregular pulse, right ventricular (left parasternal)
heave with difficult to feel apex (as it is displaced posteriorly), palpable
second heart sound, pulsatile liver.
Auscultation: Loud P2, 3rd heart sound, 4th heart sound, ejection
systolic murmur loudest at the pulmonary area, early diastolic murmur
loudest at the pulmonary area, pansystolic murmur loudest at the
tricuspid area in inspiration.
Classic cases:
Atrial Septal Defect (ASD): Wide, fixed splitting of the second heart
sound.
This depends a lot on the presentation and clinical findings but consider
Tetralogy of Fallot, idiopathic pulmonary hypertension, septal defects
without shunt reversal.
Investigations:
Bedside tests: ECG (P-pulmonale, RAD, RBBB, arrythmias, heart block),
urine dipstick (pregnancy tests), fundoscopy (roth spots).
Bloods: FBC (secondary erythrocytosis, thrombocytopaenia), iron
studies (iron deficiency should be treated), U&Es (renal failure
common), clotting (can develop aquired VWF deficiency),
CRP/ESR (high risk of IE).
Imaging: CXR (prominent, dilated pulmonary arteries with pruning of
peripheral vessels), transthoracic/transoeseophageal ECHO (anatomy,
ventricular function, shunts, vegetations), cardiac MRI (more detailed
anatomical information, ventricular function).
Special tests: Cardiac catheterisation (pressures, responsiveness to
vasoactive substances).
Management:
Non-pharmacological: Childhood vaccinations, pneumococcal
vaccination and annual influenza vaccination; phlebotomy for
hyperviscosity syndrome, counselling regarding lifestyle issues such as
pregnancy (dangerous to mother and foetus with high mortality rates).
Medical: Maintain iron stores through supplementation if required,
treat heart failure, vasodilators.
Surgical: Combined heart-lung transplant.
Referral:
To be managed at a specialist cardiology and/or cardio-thoracics
centre.
Questions:
What is Eisenmengers Syndrome? ES occurs in those who have left-to-
right shunts, who develop pulmonary arterial hypertension due to
increased blood flow and in whom the shunt then balances or reverses
to right-to-left. At this time they become cyanosed, breathless and
clubbed.
What are the complications of Eisenmengers Syndrome? Hyperviscosity
(headache, visual disturbance, impaired cognition, parasthesiae,
tinnitus), bleeding (bruising, epistaxis, gum bleeding, menorrhagia,
haemoptysis), thrombosis (PE, paradoxical emboli), ischaemia (stroke,
TIA), infection (IE, cerebral abscesses), arrythmias, renal failure, gout,
cholelithiasis.
References:
Oechslin E et al. The Adult Patient with Eisenmengers Syndrome: A
Medical Update after Dana Point (parts I, II, III). Curr Cardiol Rev 2010. 6
(4).
Tetralogy of Fallot
Possible scenarios: Breathlessness, syncope, growth retardation,
squatting at rest (to increase SVR and reduce the right to left shunt),
corrective surgery as a child.
Features of TOF: TOF is a combination of VSD, overriding aorta,
pulmonary stenosis/right ventricular outflow tract obstruction of some
form and RVH.
Features of a Blalock-Taussig shunt: Involves anastamosis of the
subclavian and pulmonary artery in order to shunt deoxygenated blood
destined for the body, into the lungs for oxygenation. Collaterals
enlarge and develop to supply the left arm from which blood has been
diverted. No longer the operation of choice as it is palliative not
curative, but may have been when the patient was young or was
indicated in their case due to complex anatomy. Left radial pulse
weaker than right, left arm may be smaller than right, left arm BP
difficult to obtain, lateral thoracotomy scar.
Features of a total repair: Usually performed on children in first year of
life. The VSD is repaired by a mesh and the right ventricle outflow tract
obstruction is relieved resulting in varying degrees of pulmonary
regurgitation and right ventricular overload. Midline sternotomy scar,
right ventricular heave, right ventricular failure (raised JVP, pan systolic
murmur of tricuspid regurgitation, peripheral oedema), early diastolic
murmur loudest in inspiration at right sternal edge.
Bedside tests: Electrocardiogram (conduction problems, arrhythmias,
left ventricular hypertrophy), urine dipstick, temperature and
fundoscopy (infective endocarditis), pregnancy testing (cardiac disease
can be a danger to mother and child during the physiological changes of
pregnancy).
Bloods: FBC (anaemia, white cell count for infection), CRP/ESR (raised in
infection)
Imaging: Chest radiograph (boot shaped heart, enlarged right ventricle,
right sided aortic arch, reduced pulmonary vasculature/oligaemia),
echocardiogram (to asses pressure gradients across valves, ventricular
systolic and diastolic function), cardiac MRI (further assessment of
anatomy and ventricular function).
Referral:
Should be under regular review by cardiology and young women should
receive pre-conception counselling and be managed by a specialist
obstetric team.
Possible questions:
What complications is this patient at risk of? Syncope, heart failure,
infective endocarditis, embolic events including cerebral abscess,
stroke.
Apart from the Blalock-Taussig shunt, what other palliative procedures
were used in the past for TOF? All procedures aim to link the pulmonary
artery to a systemic artery in Blalock it is the subclavian artery and in
Waterson anastamosis it was the back of the aorta to the PA.
Ventricular Septal Defect (VSD)
Scenarios: Breathlessness, reduced exercise tolerance, cyanosis,
fatigue, orthopnoea, paroxysmal nocturnal dyspnoea.
Examining ventricular septal defect: Apex beat forceful and displaced,
there may be systolic thrill, pansystolic murmur heard across the
precordium which is loudest at the left sternal edge, which does not
vary with respiration or radiate into the axilla. Important complications
to notice are heart failure (raised jugular venous pressure, bibasal
crepitations, peripheral oedema), Eisenmengers complex (clubbing,
cyanosis, left parasternal heave, loud P2, EDM over pulmonary area
due to Graham Steel murmur), and infective endocarditis (splinter
haemorrhages, oslers nodes, janeway lesions). To ascertain the
underlying cause note if the patient is young (likely congenital, and in
which case look for accompanying cardiac defects) or old (and if so look
for scars of previous CABG and cardiac interventions).
Ventricular septal defect:
Congenital: Isolated, associated with other heart defects (e.g.:
Tetralogy of Fallot, or with co-arctation of the aorta,
pulmonary/tricuspid atresia, aortic regurgitation), or associated with
somatic abnormalities (e.g.: Downs syndrome, Turners syndrome).
Acquired: Septal rupture post-myocardial infarction.
Mitral regurgitation, tricuspid regurgitation.
Hypertrophic obstructive cardiomyopathy.
Investigations:
Bedside tests: Electrocardiogam (LVH criteria, LAD, conduction defects).
Bloods: FBC (polycythaemia of Eisenmengers).
Imaging: Chest radiograph (prominent pulmonary arteries with
peripheral pruning of vessels), echocardiogram (position and size of the
defect, left and right ventricular function, presence of other cardiac
abnormalities, shunt direction with doppler).
Special tests: Cardiac catheterisation (step up in oxygen saturation in
the right ventricle).
Treatment:
Non-pharmacological: Advice and education.
Medical: Manage heart failure and infective endocarditis.
Surgical: Open or percutaneous transcatheter device.
Questions:
What is maladie de roger? When the patient has a small VSD which
creates a loud murmur due to a high degree of turbulence but an
otherwise normal cardiac examination.
Does a maladie de roger need treatment? Not usually as they tend to
be haemodynamically insignificant and will often close spontaneously.
What types of VSD are there? Membranous (commonest and may close
spontaneously), muscular (the typical site following a myocardial
infarction), infundibular, and atrioventricular.
When is a patient at risk of developing a VSD? 1-3 days following a
myocardial infarction they would present with rapid onset
haemodynamic collapse.
Hypertrophic (Obstructive) Cardiomyopathy
Possible scenarios: Breathlessness, syncope after (rather than during)
exercise, palpitations, family history of sudden death.
Examination of a patient with HOCM:
Inspection: Young patient.
Palpation: Jerky pulse, may feel a double impulse at brachial/carotid,
thrusting/heaving and undisplaced apex with double impulse, thrill at
lower left sternal edge (automatically the latter will make the resultant
murmur a grade 4-6).
Auscultation: Listen for two murmurs the primary ejection systolic
murmur heard loudest at the left sternal edge in valsalva and on
standing from sitting; it will often radiate across the entire precordium
(but not carotids) and the secondary pansystolic murmur at the apex
radiating to the axilla (due to systolic anterior motion of the mitral
valve). There may also be a 4th heart sound.
Extra points: Features of infective endocarditis (Oslers nodes, janeway
lesions, splinter haemorrhages, clubbing, roth spots on fundoscopy),
features of heart failure (raised JVP, peripheral/sacral oedema, bibasal
crepitations on lung auscultation), features of treatment (ICD,
pacemaker).
Classic cases:
Common associations: Atrial fibrillation (this will mean you will not feel
the double impulse as there is no defined atrial contraction), mitral
valve prolapse (ejection click and late systolic murmur).
Friedreichs Ataxia: Pes cavus, kyphoscoliosis, diabetic finger prick
marks, nystagmus and hearing aids.
Myotonic dystrophy: Temporalis muscle wasting, frontal balding, ptosis,
cataracts.
HCM can occur secondary to sarcolemmal protein mutations,
glycogen/lysosomal storage disorders, defects of fatty acid
metabolism, and mitochondrial defects; as part of a systemic disorder
such as Friedreichs or myotonic dystrophy; or due to high level
exercise and amyloidosis. Multiple murmurs in a young individual
should also trigger consideration of infective endocarditis and
congenital heart disease.
Bedside tests: ECG (left ventricular hypertrophy, LAD, Q waves and ST
changes indicative of ischaemia, ventricular ectopics, WPW).
Blood tests: FBC and CRP to asses for anaemia and raised inflammatory
markers in the context of infective endocarditis, clotting screen to
check INR if on warfarin, U&Es as baseline prior to consideration of
starting or modifying cardiac and anti-hypertensive therapies.
Imaging tests: CXR (cardiac failure pulmonary oedema, cardiomegaly
in late stages, pleural effusions and kerley B lines), ECHO (concentric or
septal hypertrophy, septal wall thickness, outflow tract gradient,
diastolic dysfunction until late stages where there is systolic
dysfunction too, associated defects like MVP), cardiac MRI (more
detailed structural information, helps identify apical hypertrophy).
Special tests: Cardiac catheterisation (gradient), genetic
tests (sarcolemmal proteins like beta myosin heavy chain, myosin
binding protein C, troponin T/I etc), endomyocardial biopsy (to rule out
other causes of LVH ie.: amyloid)
Referral:
To cardiology (likely a tertiary centre) and genetic counsellors if
confirmed.
Management:
Non-pharmacological: Genetic counselling, lifestyle advice including
avoiding strenuous exercise, referral to support and information
networks.
Medical: Beta-blockers (reduce outflow tract gradient), amiodarone
(suppress arrythmias).
Surgical: Alcohol septal ablation, septal myomectomy.
Possible questions:
What are poor prognostic markers in patients with HCM? Syncope,
family history of sudden cardiac death, poor blood pressure response
to exercise, outflow tract gradient >30mmHg at rest, septal wall
thickness, certain genetic mutations.
What is the inheritance pattern of HCM? Autosomal dominant or de
novo mutations.
What is the best method of screening family members? The large
number of possible affected genes, different mutations, and variable
expression and penetrance often make genetic analysis impracticable.
The usual method of review is with regular electrocardiogram and
echocardiogram.
How would you distinguish between the murmur of HCM and the
murmur of aortic stenosis? Aortic stenosis would be louder with
increased blood flow across the valve and thus more turbulence, in
contrast, the obstruction from the outflow tract will be lessened if
there is more blood in the heart as it will push the obstructing wall out
of the way. As such, you can make the murmur of aortic stenosis
quieter, and the murmur of HCM louder by standing from squatting.
The murmur of AS also radiates to the carotids whereas it does not in
HCM.
Why do you feel a double apical impulse in HCM? Because you are
feeling both the ventricular and apical contraction.
Mitral Regurgitation
Possible scenarios: Breathlessness, syncope, palpitations, orthopnoea,
PND, fatigue, lethargy.
Examination of mitral regurgitation: Inspect generally for features of
connective tissue disorders (tall, slim, arachnodactyly, fish mouth scars,
plucked chicken skin), feel for an irregularly irregular pulse, a thrusting
and displaced apex beat, and a palpable thrill. Listen for a quiet S1 and
a pan systolic murmur radiating to the apex which is loudest in
expiration. Check if there are features of left heart failure (3rd heart
sound, bi-basal crepitations), right heart failure (raised jugular venous
pressure, left para-sternal heave, palpable P2, loud P2, peripheral
oedema), anti-coagulation from warfarin (purpura, conjunctival pallor),
or infective endocarditis (splinter haemorrhages, janeway lesions,
oslers nodes, clubbing, scars from long lines). Note that a 3rd heart
sound can be heard in isolation in MR and is not necessarily indicative
of heart failure in this situation.
Classic cases:
Mitral regurgitation with surgical intervention: Midline sternotomy
or lateral thoracotomy which can suggest a number of issues
regurgitation of a failing prosthetic valve, regurgitation secondary to
surgical valvotomy, or mixed valve disease.
Stroke: Obvious facial droop or hemiplegia secondary to atrial
fibrillation related embolisation.
Connective tissue disorders: Marfans (high arched palate,
arachnodactyly, hypermobile joints demonstrated with the thumb in
fingers sign, pectus excavatum, kyphoscoliosis), ehlers danlos (wearing
glasses, hyperextensible skin, fish mouth scars, hypermobile joints, flat
feet, kyphoscoliosis), pseudoxanthoma elasticum (plucked chicken skin
at the neck and antecubital fossae, angioid streaks on fundoscopy).
Differential diagnosis: A similar murmur could be due to a ventricular
sepal defect, tricuspid regurgitation and mitral valve prolapse.
Otherwise the differential of the underlying cause for the mitral
regurgitation includes:
Degenerative: Age related or secondary to underlying MVP.
Infective: Rheumatic fever, infective endocarditis.
Anatomical: Left ventricular dilatation, papillary muscle rupture
following myocardial infarction.
Connective tissue disorders.
Bedside tests: ECG (atrial fibrillation, P mitre, criteria for LVH), urine
dipstick (haematuria and proteinuria of infective endocarditis),
fundoscopy (Roth spots in infective endocarditis), temperature (raised
in infective endocarditis).
Bloods: FBC (anaemia which will exacerbate symptoms and raised WCC
indicative of infective endocarditis), CRP/ESR (raised suggestive of
infective endocarditis), U&Es (to asses renal function in the context of
cardiac and anti-hypertensive medications).
Imaging: Chest radiograph (left sided heart failure with pulmonary
oedema, cardiomegaly, effusions, kerley B lines), ECHO (left atrial
dilatation, left ventricular enlargement and ejection fraction, mitral
valve abnormalities, presence of vegetations).
Special tests: Cardiac angiography (to asses for coronary artery disease
pre-operatively).
Management:
Medical: Treatment for heart failure (frusemide, beta-blockers, ACE-
inhibitors, spironolactone), treatment for atrial fibrillation (using rate or
rhythm control, and considering anti-coagulation).
Surgical: Valvotomy, valve replacement (biological or mechanical).
Possible questions:
What are the clinical features of severe mitral regurgitation? Heaving
apex, palpable thrill, soft S1, 3rd heart sound, heart failure.
What is the Graham Steell murmur? Pulmonary regurgitation murmur
secondary to pulmonary hypertension can occur in patients with
mitral regurgitation due to the resultant pulmonary congestion.
What are the features of mixed mitral valve disease? Preserved S1,
presence of an early diastolic murmur or a mid-systolic click with
subsequent late systolic murmur that varies with squatting (quieter)
and standing (louder).
What are the indications for mitral valve replacement? Acute severe
mitral regurgitation (i.e.: after an MI with features of acute volume
overload), symptomatic MR, asymptomatic MR with ejection fraction
<60%.
What are the other reasons for a significantly displaced apex
beat? Mitral regurgitation, aortic regurgitation, ventricular septal
defect, dilated cardiomyopathy (alcohol, postpartum, doxorubicin,
thyrotoxicosis, sarcoidosis, haemochromatosis, inherited).
How would you manage acute mitral regurgitation? As a surgical
emergency I would asses the patient urgently utilising an ABCDE
approach given the likelihood of cardiogenic shock, by securing the
airway, obtaining wide bore IV access and bloods, and arranging
confirmatory imaging such as echocardiography. Intra-aortic balloon
pumping may be required to stabilise them. I would examine and
investigate for common underlying causes such as prosthetic valve
failure, myocardial infarction and infective endocarditis. I would liaise
urgently with the nearest cardiothoracics centre and my local intensive
care team.
Mitral Stenosis
Scenarios: Shortness of breath, reduced exercise tolerance,
palpitations, haemoptysis.
Examining mitral stenosis:
Inspection: Malar flush, left sided thoracotomy scar if previous
valvuloplasty.
Palpation: Irregularly irregular pulse, tapping apex (feeling the loud 1st
heart sound).
Ausculatation: Loud 1st heart sound, opening click, mid-diastolic
mumur heard best in expiration with the patient in left lateral position
using the bell, pre-systolic accentuation.
Extra points: Features of heart failure (elevated jugular venous
pressure, bibasal crepitations on auscultation of the lungs, pedal and
sacral oedema; and if present is there a right ventricular heave, loud P2,
or associated EDM of PR or PSM of TR audible), features of infective
endocarditis (clubbing, oslers nodes, janeway lesions), features of anti-
coagulation (purpura, pale palmar creases, conjunctival pallor).
Infective: Rheumatic fever, infective endocarditis.
Degenerative valve disease with age or congenital abnormalities of the
valve.
Connective tissue diseases: SLE, RA.
Endocrine diseases: Carcinoid syndrome.
A similar murmur may be caused by atrial myxoma, atrial thrombus, cor
triatriatum, Austin Flint murmur (EDM caused by aortic regurgitation).
Investigations:
Bedside tests: BP (hypertension), temperature (IE), ECG (AF, p
mitrale), urine dipstick (protein or blood in IE), fundoscopy (Roth spots
in IE).
Bloods: FBC (anaemia, raised WCC in IE), CRP/ESR (raised in IE), INR (if
in AF).
Imaging: Chest radiograph (pulmonary congestion, large left atrium
causing displacement of the carina), ECHO (valve function, valve area
with less than 1cm2 being severe MS and less than 1.5cm2 being
moderate MS, left atrial dilatation, any right heart changes; also
excludes differentials including atrial myxoma).
Special tests: Cardiac catheterisation (to investigate for coronary artery
disease which may contribute to symptoms, and may require
intervention so alter management of the valve lesion).
Management:
Medical: Manage co-existing AF via rate/rhythm control and anti-
coagulation, diuretics for heart failure.
Surgical: Percutaneous balloon valvuloplasty, valvuloplasty (open or
closed), mitral valve replacement (tissue or mechanical).
Questions:
How can you accentuate the murmur of mitral stenosis? Exercise.
What can precipitate symptomatic mitral stenosis? The development of
AF, pregnancy and exercise.
What clinical features suggest severe mitral stenosis? Longer murmur,
pre systolic accentuation (only heard in sinus), short interval between
S2 and the opening snap, evidence of pulmonary hypertension and
right heart failure.
What are the indications for mitral valve surgery in mitral
stenosis? Pulmonary hypertension, haemoptysis, recurrent embolic
events; patients with NYHA II symptoms and above and ECHO features
of mod-severe mitral stenosis.
Which patients are eligible for valvuloplasty? Mobile valve; absence of
calcification, regurgitation or atrial thrombus.
Mitral Valve Prolapse
Scenarios: Palpitations, atypical chest pain, headaches, fatigue,
dyspnoea.
Examining mitral valve prolapse: Normal 1st and 2nd heart sounds
without split, mid-systolic click(s) with late systolic crescendo-
decrescendo murmur heard best at the mitral area or lower left sternal
edge, without radiation. Comment on the presence or absence of
known complications such as mitral regurgitation (soft S1, pan-systolic
murmur loudest at apex and radiating to the axilla, S3), infective
endocarditis (fever, pale palmar creases, splinter haemorrhages, oslers
nodes, janeway lesions, conjunctival pallor), embolic
phenomena (hemiparesis), or arrythmias (irregularly irregular pulse
secondary to atrial fibrillation or recurrent ventricular ectopics).
Classic cases:
Connective tissue disorder: Such as Marfans, Ehlers Danlos,
pseudoxanthoma elasticum and osteogenesis imperfecta. So look for a
tall patient with high arched palate, hypermobility, hyperextensible
skin, plucked chicken skin appearance and blue sclerae.
Turners Syndrome: Female, short stature, webbed neck, widely spaced
nipples, cubitus valgus.
Autosomal dominant polycystic kidney disease: Peritoneal dialysis lines,
AV fistulae.
Investigations:
Bedside tests: Electrocardiogram (atrial fibrillation, p-mitrale); urine
dipstick, fundoscopy and temperature (infective endocarditis).
Bloods: FBC, CRP/ESR (anaemia and raised inflammatory markers if
infective endocarditis present).
Imaging: Echocardiogram (confirm MVP with a floppy mitral valve
leaflet, establish if any mitral regurgitation).
Treatment:
Non-pharmacological: Education and re-assurance.
Medical: Beta blockers may be useful for arrythmias and atypical chest
pain.
Surgical: Does not routinely require repair.
Questions:
What will make the click and murmur of mitral valve prolapse.
Louder? Reduced cardiac volume so standing and valsalva.
Quieter? Increased cardiac volume so squatting and propanolol.
What is the cause of mitral valve prolapse? Myxomatous degeneration
of the valve, with some families displaying an autosomal dominant type
inheritance pattern.
Mitral Valve Replacement
Possible scenarios: Patient with breathlessness, fever, syncope.
Examination of a mitral valve replacement:
Inspection: Midline sternotomy or lateral thoracotomy scar from the
surgery, or a lateral thoracotomy for previous mitral valvotomy (or
post-operative complications), there may be smaller scars around the
lower chest and upper abdomen that represent the sites of post-
operative drains; less commonly they have undergone minimally
invasive surgery with a scar underneath the right breast in women, and
a small scar beneath the right nipple in males.
Auscultation: If metallic prosthetic click may be audible at S1, either
at end of the bed, close to the patient or on auscultation; occasionally
accompanied by opening click in early diastole and a diastolic murmur
(suggests Starr Edwards ball and cage valve).
Extra points: Evidence of valve failure includes pan systolic murmur of
mitral regurgitation and displaced + thrusting apex, quiet click at S1 or
accompanying features of heart failure. Also comment on after-issues
with anticoagulation (easy bruising, conjunctival pallor, pale palmar
creases, jaundice if haemolysis) and endocarditis (splinter
haemorrhages, janeway lesions, oslers nodes). Bear in mind before-
issues (i.e.: issues that developed during the lag time to surgery) like
pulmonary hypertension (loud S2, parasternal heave, pan-systolic
murmur and raised JVP with giant systolic V waves and parasternal thrill
from tricuspid regurgitation, peripheral oedema).
Classic cases:
Common associations: Atrial fibrillation.
A similar murmur is also heard in a tricuspid valve replacement. The
underlying indication may have been infective endocarditis, or mitral
stenosis or regurgitation of whatever cause.
Bedside tests: Electrocardiogram (left ventricular hypertrophy, p
mitrale, AF).
Blood tests: FBC and CRP/ESR (anaemia and raised inflammatory
markers in the context of infective endocarditis), clotting screen (INR),
U&Es (baseline prior to consideration of starting or modifying cardiac
and anti-hypertensive therapies).
Imaging tests: Chest radiograph (evidence of cardiac failure such as
pulmonary oedema, cardiomegaly, pleural effusions and kerley B lines),
echocardiogram (signs of valve failure looking for left ventricular
failure, ejection fraction and left ventricular end systolic diameter).
Referral:
Determine if patient can be managed as an inpatient or an outpatient,
and whether there are any features that would warrant expediting
routine cardiology outpatient clinic dates.
Treatment:
Medical: Anticoagulation for metallic valves, treat co-morbidities like
atrial fibrillation.
Surgical: Open surgery, minimally invasive surgery; these procedures
may be combined with CABG for coronary artery disease or ablation
procedures for arrhythmias such as atrial fibrillation.
Questions:
What are the complications of valve replacement? Dislodgement,
dehiscence, thrombosis and embolisation, infection, haemolysis,
haemorrhage related to anti-coagulation.
What is the target INR range for a mitral valve replacement? Usually
2.5-3.5.
What surgeries are performed via lateral thoracotomy? Cardiac
operations include mitral valve replacement, mitral valvotomy, repair
of co-arctation, patent ductus arteriosus ligation, and Blalock Taussing
shunt, respiratory operations include lobectomy and pneumonectomy,
oesophageal surgery, or congenital diaphragmatic surgery repair.
Neurology
This could be:
Cranial nerves
Upper limbs
Lower limbs
**REMEMBER: Some of the cases you will see, in the absence of any
history, could represent medical or neurosurgical emergencies if a
patient with the same signs presented acutely on the medical take say
this. For example hemiplegia, monoparesis, UMN facial weakness,
peripheral motor neuropathy, spastic para- or tetra paresis etc.
Whilst examining you should be noting where the likely site of the
lesion is, below are the common patterns to be aware of by their
presentation or their causes:
Upper motor neurone lesion: Arms will be held in flexion and adduction,
legs in extension. There may be contractures. Tone is increased and
there is clonus. Power is reduced, in the arms the extensors are
weakest and in the legs the flexors are weakest. Reflexes are brisk.
Plantars up-going. Can be due to a lesion in the brain,
corticospinal/pyramidal tract, or anterior horn cells.
Lower motor neurone lesion: Fasiculations at rest and wasting. Tone
flaccid. Power reduced, distally more than proximally. Reflexes absent
or reduced. Plantars down-going or mute.
Cerebellar damage: Ataxia, dysdiadochokinesis, pendular reflexes,
nystagmus, inability to walk heel-to-toe, past pointing, intention
tremor, slurred speech.
Spinothalamic tract damage: Carries pain and temperature.
Dorsal column damage: Carries vibration, joint position and pressure,
predominant carrier of soft touch.
Small fibre neuropathy: Pain and temperature, and autonomic
sensation is impaired.
Large fibre neuropathy: Vibration and proprioception sensation is
impaired.
Unilateral cord lesion: Ipsilateral loss of joint position, proprioception
and vibration sense with a spastic paraparesis, contralateral loss of pain
and temperature.
Subthalamic nucleus lesion: Contralateral hemibalismus.
Horners Syndrome
Scenarios: Face or neck pain, unequal pupils noted, different colours of
the iris noted.
Features of Horners syndrome:
Partial ptosis: Affects both the upper and lower lid.
**If you ever mention ptosis say if it is bilateral or unilateral,
complete or partial, and whether or not it is fatiguable.
Apparent enophthalmos: Due to the above.
Miosis: Causing anisocoria. Ask for the lights to be turned off to make
this effect more marked as the contralateral pupil dilates the affected
pupil may dilate but often slowly, a so called dilation lag.
Anhidrosis and flushing:
First order: Ipsilateral body.
Second order: Ipsilateral face
Third order: Absent or just above the brow.
If youve seen Horners syndrome: Mainly examine through inspection.
General: Look for hemiparesis or mobility aids.
Face: Focus in on the iris and look for heterochromia (congenital or very
long standing causes, affected iris is lighter). Check eye movements
looking for associated ophthalmoplegia, then track towards the neck
looking for signs of scars of trauma.
Neck: Look for any scars and palpate for lymphadenopathy, aneurysms
and thyroid nodules; check for tracheal deviation; auscultate for carotid
bruits.
Upper thorax: Any scars superiorly, or posteriorly on the back that
could suggest previous lobectomy; auscultate at the lung apex
comparing with the normal side and check vocal resonance.
Ipsilateral arm: Wasting, fasiculations, claw hand.
Neurological examination upper limbs: Motor, cerebellar and sensory.
Congenital: Birth injury to sympathetic chain (Klumpkes paralysis),
hereditary.
First order (from hypothalamus, to midbrain, to spinal cord): Trauma,
stroke (e.g.: Wallenberg syndrome), tumour (primary or secondary,
benign or malignant), demyelination (multiple sclerosis), syringomyelia.
Due to the location these are unlikely to present as isolated Horners
they would be associated with other neurological signs.
Second order (from spinal cord, exiting at C8/T1/T2, across top of lung,
up into the neck): Trauma, pancoast tumour, schwannoma.
Third order (from neck up into the face): Trauma, carotid artery
dissection, cavernous sinus thrombosis or inflammation, cluster
headaches, migraines.
Investigations:
Bedside tests: Review old photos (clarify time of onset).
Bloods: Depends on underlying cause e.g.: FBC, LFTs, bone profile for
malignancy if second order.
Imaging: MRI brain (1st order ischaemia, demyelination, tumour),
chest radiograph and/or CT thorax (2nd order Pancoasts), MRA
and/or carotid doppler (2nd and 3rd order), MRI cavernous sinus and
orbits (3rd order).
Special tests: Apraclonidine test (confirms Hornerss syndrome
reversal of anisocoria causing the affected pupil to dilate and
sometimes the ptosis to resolve), cocaine test (confirms Horners
syndrome exacerbates the anisocoria by causing the normal pupil to
dilate but not the affected one), hydroxyamphetamine test (confirms
site of lesion normal dilation of the affected eye if 1st/2nd order,
absent or poor dilation of the affected eye if 3rd order).
Treatment:
Medical: Treat underlying cause.
Surgical: Treat underlying cause or for correction of ptosis.
Questions:
What is the mode of inheritance of hereditary Horners
syndrome? Autosomal dominant.
What is Klumpkes paralysis? Usually caused by a birth injury that
damages C8 and T1 causing weakness and anaesthesia in these areas
with clawing of the hand.
What is Wallenberg syndrome? Posterior inferior cerebellar artery
infarct encompassing dysphagia, sensory loss ipsilateral
face and contralateral trunk and extremities, ipsilateral cerebellar
ataxia, and rotatory nystagmus. It is also known as the lateral medullary
syndrome. Ipsilateral facial sensation is affected here because of
damage to the trigeminal spinal nucleus which receives sensory
information.
If the patient describes neck or face pain with the onset of their
Horners, what diagnosis would you suspect? They should be
considered to have a carotid artery dissection until proven otherwise,
and investigated with urgent CT or MR angiography.
References:
https://www.youtube.com/watch?v=JBVGh0gyyYc How to examine
Horners syndrome.
Seventh Cranial Nerve Palsy
Scenarios: Double vision, inability to close eye.
Examining for a 7th cranial nerve (facial) palsy: The exact effects
depend on the site of the lesion. There will be facial weakness which
includes the forehead (frontalis) with flattening of the nasolabial fold
and difficulty closing the eye (orbicularis oculi) the eye may deviate
upwards on attempted eye closure (Bells phenomenon). Key negatives
in this condition are the presence or absence of cerebellar signs,
ophthalmoplegia, sensory signs, hyperacusis (using tuning fork), and
parotid enlargement or tenderness. An upper motor neurone lesion
spares the forehead due to bilateral innervation. If allowed to question
the patient, ask:
Have you noticed any change in your sense of taste?
Are you finding loud noises uncomfortable?
In the setting of station 5 the key examination in this case is:
Facial nerve: Lift up your eyebrows, close your eyes tight and dont let
me open them, puff out your cheeks, show me your teeth with a smile.
Trigeminal nerve: This is a piece of cotton wool, does it feel the same
on both sides of your face, now clench your jaw. Offer to perform the
jaw jerk and corneal reflex.
Abducens nerve and nystagmus: Follow my finger with your eyes from
side to side look for failure to abduct and nystagmus and the direction
in which it is most pronounced and the direction of its fast phase
(towards a cerebellar lesion, away from a vestibular lesion).
Vestibulocochlear nerve: Which sounds loudest when I hold it here
(air) or here (on the bone), and does it sound louder either side now
(hold in middle of forehead).
Cerebellar: Repeat after me British constitution, west register street;
take your finger and touch my finger then your nose.
Shine a pen torch in the mouth looking for ulceration and vesicles.
Palpation: Get up and feel their lymph nodes and parotid glands
posteriorly whilst also inspecting for any scars behind the ears or within
the hair line.
Offer to perform fundoscopy, fluorescein staining of the eyes for
corneal ulcers, and otoscopy looking for vesicles within the external
auditory canal and tympanic membrane.
Anatomical: Tumour, bony compression, trauma or vascular
malformation compressing the nerve at any point along its course from
pons, cerebellopontine angle, internal auditory meatus, and parotid
gland.
Infective: Herpes simplex, herpes zoster, Lymes disease.
Infiltrative: Sarcoidosis, amyloidosis.
Inflammatory: Guillain Barre, Miller Fischer syndrome, Sjogrens
syndrome.
Ischaemic: Diabetes, hypertension.
Neoplastic: Lymphoma.
Investigations:
Bedside tests: Otoscopy (vesicles on the tympanic membrane,
cholesteatoma, otitis media), finger prick glucose (diabetes), urine
dipstick (glycosuria, proteinuria), blood
pressure (hypertension), ECG (arrythmias like AF which could cause
embolic phenomena).
Bloods: fasting
glucose (diabetes), HbA1c (diabetes), lipids (cardiovascular
disease), FBC (anaemia or raised WCC), ESR/CRP (raised in
inflammation).
Imaging: MRI head or auditory meatus (underlying mass lesion,
inflammatory changes in the nerve).
Special tests: Autoimmune screen (including RF, ANA, anti-dsDNA,
ANCA, complement, cryoglobulins, ACE), serology (HIV, Lymes,
hepatitis) and blood film/LDH (lymphoma); lumbar puncture (infection,
meningeal infiltration from malignancy).
Management:
Non-pharmacological: Eye patching, re-assure as most spontaneously
improve over the subsequent weeks and months.
Medical: Eye drops and ointments, analgesia, prednisolone (ideally
within 72 hours of onset).
Surgical: Facial nerve decompression, cosmetic surgery.
Questions:
What score is used to describe the severity of the paralysis? House
Brackmann scale from 1 = normal to 6 = total paralysis.
What is Ramsay Hunt Syndrome? A lower motor neurone facial
weakness secondary to herpes zoster infection. Usually with ear pain,
vesicles on the tympanic membrane and/or mouth.
What would prompt you to consider doing an MRI in a patient with a
facial nerve palsy? Presence of additional signs (e.g.: suggestive of
cerebellopontine angle involvement), bilateral facial nerve palsy, and
recurrent facial nerve palsy.
What autoantibodies may be positive in patients with facial nerve
palsy? Anti-ganglioside antibodies are sometimes seen.
Sixth Cranial Nerve Palsy
Scenarios: Double vision, squint.
Examining for a 6th cranial nerve (abducens) palsy: Esotropia of the
affected eye at rest, failure to abduct the eye, and double vision on
attempted abduction which resolves on covering the affected eye. Key
negatives are features of diabetic retinopathy and optic nerve swelling
on fundoscopic examination, and the presence or absence of
diabetic finger prick marks. If they are wearing glasses look closely for
the presence of a Fresnel prism.
Brainstem lesion: Stroke, aneurysm, tumour, or inflammation.
Mononeuropathy: Diabetes, vasculitis (ANCA associated, rheumatoid,
SLE, cryoglobulinaemia), sarcoid, infection (Lymes disease, HIV,
leprosy).
Raised intracranial pressure: Tumours, idiopathic intracranial
hypertension, haemorrhages, cerebral oedema.
Cavernous sinus lesion: Infection (tracking from the teeth, central face,
sinuses; e.g.: staph aureus), thrombosis, Tolosa Hunt Syndrome.
CN VI often the first to be affected as it lies free in the sinus, but with
time, CN III and IV (which lie along the lateral wall) will also be affected.
Look for proptosis, ptosis and a source of infection.
Investigations:
Bedside tests: Finger prick glucose (diabetes), urine dipstick (glycosuria,
proteinuria), blood pressure (hypertension), ECG (arrythmias like AF
which could cause embolic phenomena).
Bloods: fasting glucose (diabetes), HbA1c (diabetes),
lipids (cardiovascular disease), FBC (anaemia or raised
WCC), ESR/CRP (raised in inflammation).
Imagining: CT or MRI head (underlying brainstem lesion, inflammatory
changes in the nerve or cause of raised intracranial pressure).
Special tests: Autoimmune screen (including RF, ANA, anti-dsDNA,
ANCA, complement, cryoglobulins) and serology (HIV, Lymes,
hepatitis).
Management:
Non-pharmacological: Patching, fresnel prism glasses (like normal
glasses, but looking closely at the lens you may see ridges running
down the lens), ophthalmology review, occupational therapy, DVLA
considerations.
Medical: Optimise CVD risk factor control including treatment of
diabetes, hypertension and hypercholesterolaemia (with concurrent
appropriate lifestyle measures).
Surgical: If underlying cause amenable to surgery.
Questions:
What is the commonest cause of an isolated 6th nerve palsy? Diabetes
mellitus.
What is the commonest cause of diplopia in adults? 6th cranial nerve
palsy.
What is an internuclear ophthalmoplegia? A disorder of conjugate
lateral gaze caused by damage to the medial longitudinal fasiculus
which connects the oculomotor and abducens nerve nuclei. If the right
MLF is damaged the eyes will appear normal on looking to the right, but
on looking to the left, the right eye will fail to abduct and the left eye
will develop nystagmus as it adducts. It is commonly due to
demyelination from multiple sclerosis, or less commonly secondary to a
ischaemic event in the mid-brain.
Third Cranial Nerve Palsy
Scenarios: Double vision, droopy eye, eye pain.
Examining for a 3rd cranial nerve (oculomotor) palsy: Complete ptosis
(parasymp), eye down and out (3rd nerve), fixed dilated pupil that does
not accommodate (parasymp). Note if the 2nd nerve (blind, wont get
double vision) or 4th nerve (eye will be out more than down and out,
and will not intort when you ask the patient to look in and down) are
affected (if both affected, think orbital apex, superior orbital fissure or
cavernous sinus syndrome). Look for surgical scars, especially if the
pupil was involved, as this may suggest surgical repair or excision of an
aneurysm or tumour.
Differential diagnosis: The Cases for PACES book (Second edition, Hoole
S, Wiley Blackwell 2010) talks about the four Ms of a medical 3rd nerve
and the three Cs of a surgical 3rd nerve palsy.
Surgical 3rd nerve: Painful with a dilated pupil and ptosis. Posterior
communicating artery aneurysm, tumour, raised intracranial pressure
with cerebral uncal herniation, cavernous sinus pathology.
Medical 3rd nerve: Painless with an unaffected pupil. Mononeuritis
multiplex (diabetes mellitus, hypertension, vasculitis, infection like
Lymes), midbrain demyelination (MS), midbrain infarct (Webers),
migraine.
Investigations:
Bedside tests: Finger prick glucose marks (for diabetes), urine
dipstick (glycosuria, proteinuria), blood pressure (hypertension).
Bloods: Fasting glucose (for diabetes), HbA1c (for diabetes), lipids (for
cardiovascular disease assessment), FBC (anaemia, infection or
inflammation), CRP/ESR (infection or inflammation), serology (HIV,
syphilis, Lymes).
Imaging: CT head (evidence of bleeding or mass lesion), CT or MR
angio (looking for aneurysms).
Special tests: Catheter angiography (MRA can detect aneurysms of 2-
3mm so is usually sufficient, but this is the gold standard).
Management:
Non-pharmacolgical: Re-assurance as most medical 3rd nerve palsies
improve over a period of 3 months.
Medical: Treat underlying cause, analgesia.
Surgical: Clip or coil an aneurysm.
Questions:
What is Webers Syndrome? Third nerve palsy with contralateral
hemiparesis. Suggests a lesion of the cerebral peduncle.
What is Benedikts Syndrome? Third nerve palsy with contralateral
tremors. Suggests a lesion of the red nucleus.
What is Nothnagels Syndrome? Third nerve palsy with ipsilateral
ataxia. Suggests a lesion of the superior cerebellar peduncle.
What ocular muscles does the 3rd nerve supply? Inferior oblique and
the medial, superior and inferior rectus.
Charcot Marie Tooth Disease (HMSN)
Scenarios: Difficulty walking, leg weakness.
Examination of Charcot Marie Tooth:
Inspection: Pes cavus (place your palm across the bottom of the foot to
show that you are looking for this), hammer toes, callosities, muscle
wasting (distal more than proximal giving inverted champagne bottle
appearance, hands can also be affected with resultant clawed
appearance), postural tremor, high steppage gait, scoliosis.
Occasionally fasiculations.
Palpation: Thickened nerves.
Tone: Reduced.
Power: Reduced with distal muscles affected more than proximal.
Reflexes: Reduced, planters down-going or mute.
Co-ordination: Normal though patient may have some sensory ataxia.
Sensation: Typically milder than the motor involvement and involve
reductions in vibration, soft touch, sharp touch, and propriception.
Positive Rombergs
Two rare forms have other associations such as pyramidal involvement
or optic atrophy.
Differential diagnosis: The main differentials would be diabetes, alcohol
and a vasculitis with mononeuritis multiplex in a young individual.
Hereditary: Other CMT subtypes, mitochrondrial disorders, hereditary
neuropathy with pressure palsies.
Acquired neuropathies: Immune (Chronic inflammatory demyelinating
polyneuropathy, mutlifocal motor neuropathy with conduction blocks),
metabolic (diabetes), toxic (alcohol, medications), nutritional (B12
defiency), paraneoplastic, amyloidosis.
If predominant motor consider motor neurone disease.
Investigations:
Bedside tests: Basic observations including heart rate and lying and
standing BP (autonomic involvement from a neuropathy), finger prick
glucose (to r/o diabetes), urine dipstick (glycosuria of diabetes,
proteinuria of amyloidosis), fundoscopy (optic atrophy of type 6).
Bloods: To rule out alternatives.
Special tests: Genetic testing (can now diagnose most forms of the
disease this way but lots of mutations so need to be guided by the
apparent inheritance pattern and findings on NCS/EMG), nerve
conduction studies (axonal: preserved or only mildly slow conduction
velocities of low amplitude or demyelinating: slowed conduction
velocities), nerve biopsy (axonal: axonal degeneration and regeneration
or demyelinating: demyelination with demyelination looking like onion
bulb abnormalities).
Management:
Non-pharmacological: Physiotherapy, orthotics (shoe modifications,
braces), referral for genetic counselling and support groups.
Medical: Analgesia.
Surgery: Orthopaedic procedures (soft tissue surgery like plantar
fasciotomies and tendon transfers, osteotomies, joint fusions).
Questions:
What is the inheritance pattern in Charcot Marie Tooth
Disease? Variable all mendelian inheritance forms are seen including
autosomal dominant and recessive, and X-linked are recognised.
Which form of CMT do you think the patient has? Clinically it is difficult
to asses and will be based on a combination of physical findings,
inheritance pattern, findings on nerve conduction studies and genetic
testing. Clues include:
Thickened peripheral nerves: Type 1 and 3.
Weakness worse in arms than legs: Type 2D.
Pyramidal tract signs: Type 5.
Optic atrophy: Type 6 (also consider Friedreichs Ataxia, especially if
cerebellar signs present).
Foot drop
Scenarios: Weakness, difficulty walking, pain in the leg.
Examining foot drop: If youve had the patient walking first you should
have noticed a high stepping gait on the affected side. If this is seen
start looking carefully for causes of foot drop. Whilst the patient is
standing have a close look around the knee of the affected leg for scars
and trauma, and quickly ask to have a look at their lower back for any
scars of previous surgery. Back on the bed look for wasting (tibialis
anterior) and check their shoes for scuffing at he front. Then asses their
power and sensation as normal.
Classic cases:
L4/L5 nerve palsy: Weakness of ankle dorsiflexion, eversion and
inversion with dermatomal sensory loss over the lower leg between
knee and ankle.
Sciatic nerve palsy: Weakness of ankle dorsiflexion, eversion, inversion,
and plantarflexion. Loss of the ankle jerk and widespread sensory loss.
Common perineal nerve palsy: Weakness of ankle dorsiflexion and
eversion, in addition to toe extensors; ankle inversion is intact. Sensory
loss over the lateral calf and dorsum of the foot. There may be a
positive tinnels sign.
Deep peroneal nerve palsy: Weakness of ankle dorsiflexion but with
preserved ankle eversion and inversion. Sensory loss between big toe
and 2nd metatarsal.
Congential: Hereditary neuropathy with pressure palsies, hereditary
sensorimotor neuropathy (aka Charcot Marie Tooth).
Traumatic:
L4/L5 root: Prolapsed disc.
Lumbosacral plexus: Trauma, pelvic malignancy, radiotherapy.
Sciatic nerve palsy: Trauma, intramuscular injection, buttock
haematoma.
Common peroneal nerve palsy: Trauma, compression (eg: from cast,
habitual leg crossing, lipomas).
Endocrine: Diabetes, acromegaly.
Toxic: Alcohol.
Inflammatory: Polyarteritis nodosa, Churg Strauss, rheumatoid arthritis.
Infection: HIV, leprosy, Lymes.
Muscular: Motor neurone disease, myotonic dystrophy, myasthenia
gravis.
Investigations:
Bedside tests: Finger prick blood glucose and urine dipstick for protein
and glucose (diabetes), fundoscopy (diabetic retinopathy, optic atrophy,
retinitis pigmentosa), lying and standing blood pressure (autonomic
neuropathy).
Bloods: FBC (anaemia, raised white cell counts), fasting
glucose (diabetes), HbA1c (diabetes), TFTs (hypothyroidism),
haematinics (B12 deficiency), CRP/ESR (infection or
inflammation), autoimmune screen (inc. ANCA and ANA screening for
causes of neuritis), LFTs and bone
profile (paraneoplastic), virology (including HIV serology).
Imaging: MRI lumbar spine and sacrum (nerve root compression or
spinal cord impingement from mass lesions, osteophytes, disc
prolapses).
Special tests: Nerve conduction studies (localise the site of the
lesion), electromyography (to ascertain which muscles are involved and
thus the likely site of the lesion).
Treatment:
Non-pharmacological: Education, physiotherapy, occupational therapy,
orthotics, DVLA considerations.
Medical: Analgesia, treat underlying cause.
Questions:
What are the branches of the common perineal nerve? There is
a superficial and a deep branch.
What is the origin of the common peroneal nerve? The sciatic nerve.
Multiple Sclerosis (MS)
Scenarios: Difficulty walking, falls, weakness, clumsiness, visual
problems, symptoms worse after warm bath.
Examining multiple sclerosis:
General: Walking aids, suprapubic or other long term catheter in situ,
increased tone, pyramidal weakness, brisk reflexes, incordination.
Cranial nerves: Optic atrophy, relative afferent pupillary defect, double
vision, internuclear ophthalmoplegia, nystagmus, slurred speech.
Arms: Intention tremor and past pointing, dysdiadochokinesis.
Legs: Clonus, up-going plantars, difficulty with proprioception and
vibration sense.
Optic atrophy: Congenital or acquired such as following optic nerve
swelling, neuritis and AION; and optic nerve compression by aneurysms
and tumours, glaucoma, central retinal vein or artery occlusion,
inflammatory (sarcoidosis), and systemic (hypercapnoea,
hypocalcaemia, alcohol-tobacco).
Internuclear opthalmoplegia: Multiple sclerosis and other brain stem
inflammation (e.g.: Behcets, sarcoidosis), brain-stem infarct or
haemorrhage.
Relative afferent pupillary defect: Optic neuritis, AION, optic atrophy.
Spastic paraplegia: Hereditary spastic paraplegia, parasaggital
meningioma, bilateral lesions of the brain (strokes, vasculitis, cerebral
palsy), spinal cord lesions (tumours, myelitis, abscesses, ischaemia,
trauma).
Upper motor neurone and cerebellar signs: Spinocerebellar ataxia,
Friedrichs ataxia (if sensory features), multiple strokes.
Investigations: Diagnosis now based on the McDonald criteria (with
lesions disseminated in time and space) and made up of a combination
of clinical and magnetic resonance imaging findings, sometimes with
the addition of CSF findings.
Bedside tests: Urine dipstick (to distinguish a flare, from deterioration
of symptoms secondary to infection).
Bloods: To rule out differentials FBC (inflammation, anaemia), U&Es
(renal failure), LFTs (hepatitis), TFTs (hypothyroid/hyperthyroid), B12
(low), virology (HIV and hepatitis), bone profile (hypercalcaemia).
Imaging: Magnetic resonance imaging of the head and
spine (periventricular, active lesions often enhance with contrast).
Special tests: Visual evoked potentials (delayed), lumbar puncture and
CSF analysis (oligoclonal bands in CSF but not serum).
Management:
Non-pharmaceutical: Education, physiotherapy, occupational therapy,
speech and language therapy, orthotics, specialist nurse and support
group input, advice regarding benefits and social care assessments,
catheterisation (long term, suprapubic, intermittent), DVLA
considerations.
Medical: Acute flare exclude infection then IV pulsed
methylprednisolone (500mg/day); disease modifying medications for
relapsing-remitting interferon beta (neutralising antibodies can
develop), glatiramer acetate, and dimethyl fumarate (the only oral
option), or second line natalizumab (PML risk), fingolimod, campath;
symptomatic urinary frequency with oxybutinin, spasticity with
baclofen, amantadine for fatigue, and analgesia.
Questions:
What types of multiple sclerosis are there? Relapsing remitting, primary
progressive, secondary progressive. In those with a first ever episode
(i.e.: optic neuritis, transverse myelitis etc) and signs consistent with
multiple sclerosis on MRI the diagnosis is termed Clinically Isolated
Syndrome (CIS) as they do not, as yet, have lesions separated in time
(although this is changing see the 2010 McDonald criteria which allow
an MS diagnosis after a single clinical episode).
What is the outcome of CIS? Less than 50% develop MS in the
subsequent 5 years.
What is spinocerebellar ataxia? Autosomal dominant trinucleotide
repeat disorder which demonstrates anticipation
Old Polio
Scenarios: Childhood illness, meningitis, weakness of one limb,
difficulty with speech or swallowing.
Examining a patient with old polio: Monoparesis with limb hypoplasia
and wasting, hypotonic, reduced or absent reflexes, normal sensory
examination. Fasciculations are rare.
Infantile hemiplegia.
Motor neurone disease.
Investigations: In someone whom you suspected to have acute
poliomyelitis you would want to do
Bedside tests: Oxygen saturations +/- arterial blood gas (type 1 and 2
respiratory failure), vital capacity (respiratory involvement that may
warrant intubation), heart rate and lying and standing blood
pressure (for autonomic involvement).
Bloods: Acute and convalescent serology samples (look for positive IgM
or a four-fold rise in IgG).
Special tests: PCR from throat, stool or CSF (alternative confirmatory
test), lumbar puncture (to exclude differentials and confirm diagnosis).
Management:
Non-pharmacological: Preventative measures such as vaccination (Salk
inactivated vaccine in the UK at the present time), notify the consultant
of communicable diseases if infection confirmed and arrange urgent
vaccination of contacts, strict bed rest, regular turning and pressure
relieving mattresses to prevent pressure sores, consider
catheterisation, intubation if respiratory failure develops.
Medical: Laxatives, analgesia.
Questions:
What is post-polio syndrome? New onset deterioration in a case of
established old polio with the development of new muscle weakness
and fatiguability. I would re-assure the patient that this does not signify
reactivation or re-infection, and is often multifactorial related to co-
existing pathologies and disuse phenomena.
What is the mode of transmission of polio? Faecal-oral with
gastrointestinal infection that is usually mild, but on occasion involves
transmission to the motor neurones within the anterior horn cells
causing paralysis.
What vaccination types are available for polio? In the UK we use the
Salk vaccine which is an inactivated polio vaccine given by
intramuscular injection the benefits of this are that there are no risks
of vaccine induced infection and as such it can be given to those who
are immunsuppressed, but the drawbacks are that there is no
community protection and it is slightly less effective against the wild-
type infection because GI infection not prevented. The alternative, that
was used until recently, was the Sabine vaccine which was a live polio
vaccine taken orally. The benefits were that it prevented gut infection
and because the vaccine strain was shed in the stool there was a
degree of community protection. The drawbacks were the risks of
reversion to a form of polio which could cause infection.
In what situations would the Sabine live form of the vaccine be
favoured? During an outbreak.
Is polio still seen in the UK? The last case of naturally acquired polio
infection in the UK was in 1984, cases may still be seen if acquired
abroad or if the patient has received (or been in contact with someone
who has received) the oral (live, Sabin) polio vaccine.
Peripheral Polyneuropathy
Presenting complaint: Difficulty walking, numbness, weakness.
Examining peripheral neuropathy: Inspect around the bed for walking
aids, modified shoes and splints. Look for fasiculations and muscle
wasting, sensory ataxia is evidenced by postural tremor, or
pseudoathetoid movements and Rombergs sign with the eyes closed. If
there is severe weakness which has been present for a long time (i.e.:
especially the hereditary causes), look for pes cavus, Charcot joint and
kyphoscoliosis, or hair loss, shiny dry skin, hypo pigmentation,
callosities, and ulceration. When the patient is walking look for a high
stepping gait suggestive of foot drop. Have a quick look at the hands for
finger prick glucose testing marks, clubbing, vasculitic changes and
Mees Lines (arsenic poisoning). You may also see dorsal guttering, or
wasting of the thenar or hypothenar eminences. Feel the legs for
thickened nerves such as a prominent common peroneal nerve
(Charcot Marie Tooth 1, leprosy, amyloidosis, neurofibromatosis,
acromegaly). With the remainder of the examination evaluate if its
motor, sensory, or sensorimotor; if its proximal or distal; small fibre
(soft touch and sharp touch) or large fibre (soft touch, vibration and
propioception); and if its focal, multifocal, or polyneuropathic.
Predominantly motor: CIDP, GBS, critical illness neuropathy, hereditary
motor sensory neuropathy, multifocal motor neuropathy and
conduction block, porphyria, lead, dapsone. *Also mention the
possibility of pathology in other locations such as the anterior horn cell
(progressive muscular atrophy form), neuromuscular junction
(botulism) and muscle (peripheral patterns seen in myotonic dystrophy
and inclusion body myositis).
Predominantly sensory: Diabetes, alcohol, B12 or thiamine deficiency,
isoniazid and vincristine, vasculitis, uraemia.
Mononeuritis multiplex: Diabetes, vasculitis (PAN, churg strauss,
rheumatoid arthritis), infective (HIV, lymes disease), paraneoplastic and
amyloidosis.
Investigations:
Bedside tests: Fundoscopy (diabetic retinopathy, optic atrophy, retinitis
pigmentosa), finger prick glucose (diabetes), urine dipstick (diabetic
nephropathy or glomerulonephritis), lying and standing blood
pressure (autonomic neuropathy), vital capacity (if acute and
progressive).
Bloods: FBC (anaemia, raised white cell count, macrocytosis if B12
deficient or alcoholic), U&Es (uraemia), fasting
glucose (diabetes), HbA1c (diabetes), vitamin B12 (deficiency), thyroid
function tests (hypothyroidism), LFTs and bone profile (in consideration
of underlying malignancy or an elevated GGT of liver
disease), CRP/ESR (inflammation or infection), virology (HIV, consider
Lymes.).
Imaging: Depends on findings and history.
Special tests: Nerve conduction studies (Axonal: reduced amplitude;
Demyelinating: slowed action nerve
conduction), electromyography (Axonal: denervation of
muscle), lumbar puncture (raised protein and normal cell count of GBS,
cytology for lymphoma), nerve biopsy (sural nerve most
commonly), genetic testing (CMT testing).
Management:
Non-pharmacological: Physiotherapy, occupational therapy, orthotics,
social needs assessment, DVLA considerations, CBT for chronic pain,
TENS machine; stop drinking alcohol if this is contributory; if diabetic
refer to an endocrinologist, diabetic specialist nurse, podiatrist,
dietician.
Medical: Analgesia if painful NICE recommends amitryptilline
(tricyclic), duloxetine (SNRI), gabapentin or pregablin (both
anticonvulsants) they may require input from a chronic pain team;
also topical capcaisin; treat the underlying cause including tight glucose
control in diabetics.
Questions:
What is a Charcot Joint? A neuropathic joint where impaired joint
position sense and sensation of pain leads to chronic damage to joints
such as the ankle and mid-foot, often accompanied by poor healing
responses related to peripheral vascular changes or autonomic
neuropathies.
How would you distinguish clinically between a neuropathy and a
myopathy? A myopathy tends to have a proximal pattern of weakness,
an absence of fasciculations and tendon reflexes preserved until late in
the disease course, with a tendency to develop contractures. The
presence of sensory signs as well should make a neuropathy more
likely. If you are thinking of a myopathy then it is important to consider
if there is any cardiac involvement.
What medications cause neuropathy?
Sensory: Isoniazid (so give pyridoxine).
Sensorimotor: Vincristine, amiodarone.
Motor: Dapsone.
Proximal Myopathy
Possible scenarios: Weakness, falls, difficulty standing from sitting or
climbing stairs, leg pain, difficulty brushing hair.
Examination of a patient with proximal myopathy:
Inspection: Wasting (either indicates longstanding myopathy like
hereditary myopathies or IBM, or particular conditions such as MND).
Palpation: Tender or not, MRC grade of weakness, proximal or distal or
both (think IBM).
Extra points: In trying to narrow the differential comment on additional
muscle involvement such as ocular, pharyngeal, respiratory, or
cardiovascular weakness; and whether it is fatiguable.
Classic cases:
Diabetic amyotrophy: Glucose testing finger prick marks, evidence of
renal replacement therapy (AV fistulas, neck line scars, renal transplant
scar), pain a predominant feature.
Hyperthyroidism: Thyroid acropachy, postural tremor, warm and
sweaty palms, exophthalamos, goitre.
Cushingoid: Glucose testing finger prick marks, thin skin, easy bruising,
interscapular fat pad, acne, striae.
Dermatomyositis: Gottrons papules, mechanic hands, photosensitivity,
heliotrope rash, basal lung crepitations. Is there evidence of underlying
malignancy?
Paraneoplastic: Cachexia, finger clubbing, lymphadenopathy, surgical
scars, radiation tattoo marks.
End stage renal failure: Glucose testing finger prick marks, evidence of
renal replacement therapy (AV fistulas, neck line scars, renal transplant
scar).
Alcohol excess: Dupytrens contracture, evidence of chronic liver
disease (purpura, palmar erythema, spider naevi, gynaecomastia,
axillary hair loss, jaundice).
The differential diagnosis of the underlying cause of the proximal
myopathy includes:
Iatrogenic: Statins (especially high dose simvastatin), fibrates, steroids
(especially dexamethasone).
Toxic: Alcohol, cocaine, heroin.
Hormonal: Hypo- and hyperthyroidism, Cushings,
hyperparathyroidism, diabetes.
Nutritional: Vitamin D deficiency.
Inflammatory: Polymyositis, dermatomyositis, inclusion body myositis,
sarcoidosis.
Hereditary: Beckers, limb girdle fascioscapulohumeral dystrophy,
proximal myotonic dystrophy, glycogen and lipid storage disorders.
Infectious: HIV, influenza, hepatitis B/C.
The differential diagnosis of a proximal myopathy includes a motor
neuropathy (affecting the motor nerves rather than muscle; i.e.:
porphyria), motor neurone disease (affecting the anterior horn cell),
Guillain Barre Syndrome (affecting peripheral nerves), and myasthenia
gravis (affecting the NMJ). Consider if fatiguable weakness or if there
are fasiculations, loss of- or exaggerated deep tendon reflexes or any
upper motor neurone signs.
Bedside tests: Forced vital capacity (if less than 15mls/kg they should
be discussed with ITU), blood sugar (for diabetes), ECG (for cardiac
involvement), urine dipstick (if positive for blood it may actually be
myoglobin and indicate rhabdomyolysis)
Blood tests: Depending on other clinical findings, first line tests for
common causes U&Es, fasting glucose, CK, vitamin D, TFTs,
ESR/CRP followed by cortisol, PTH, ANA, anti-Jo1 antibodies, ACE,
virological screens.
Imaging tests: MRI muscle (to identify inflammation and sites for
biopsy), additional imaging may be required for the evaluation of
malignancy.
Special tests: Needle EMG (short duration and reduced amplitude),
muscle biopsy (for histopathology, if inflammatory may be amenable to
immunosuppressives).
Referral:
Usually managed as an outpatient, may need to consider
outpatient rheumatology referral. If evidence of respiratory
involvement of rhabdomyolysis they will need urgent inpatient
evaluation.
Management:
Very dependent on underlying cause, but consider simple measures like
medication discontinuation, alcohol cessation, optimisation of co-
morbidities such as diabetes, thyroid disease and renal failure.
Possible questions:
Which medications increase the risk of myopathy in patients on
statins? P450 inhibitors such as fibrates, cyclosporin, macrolides,
amiodarone, and protease inhibitors; also grapefruit juice.
Which other patient factors increase the risk of myopathy on
statins? Old age, renal and/or liver failure, hypothyroidism, alcohol
excess, strenuous exercise.
What factors predispose to vitamin D deficiency? Old age, darker skin
colour, infrequent exposure to sunlight, renal failure, malabsorption
due to conditions like Coeliacs disease, medications that increase
vitamin D breakdown like rifampicin and phenytoin.
What are the causes of a raised CK? Muscle cell death (cardiac muscle,
skeletal muscle), exercise, Afro-Caribbean ethnicity, IM injections,
hypothyroidism, motor neurone disease.
Spastic Paraparesis
Scenarios: Difficulty walking, falls, back pain.
Examination of spastic paraparesis: Look around the bed for walking
aids or wheelchairs, and check for the presence of a catheter. If the
patient can walk, look for a spastic gait with bilateral circumduction
described as scissoring, and whilst they are standing inspect the spine
for scars. If not able to walk, ask them to sit forward so you can see the
spine whilst doing your inspection you may want to palpate down the
spine to asses for any tender points. If you see a scar think of your
surface landmarks to help localise it T3 at spine of scapula, T7 and
lower tip of scapula, and L4 at posterior superior iliac spine. Move
down to the feet looking for neuropathic joints, high foot arches, and
disuse wasting. There will be increased tone, clonus, spasms, weakness
in a pyramidal pattern (extensors stronger than flexors), hypereflexia,
and upgoing plantars. There may or may not be sensory involvement
depending on the underlying cause, but if absent you should consider
diagnoses like MND and HSP, whilst if present you should see if you can
find a sensory level to localise the lesion by definition the lesion must
be above L1 as this is where the pyramidal tracts (i.e.: spinal cord) end.
If you have time and the examiners allow, do a limited further
examination including upper limb reflexes, checking for past pointing
and intention tremor, and eye movements for nystagmus or an INO. I
would like to complete my examination by:
Taking a history in particular focusing on symptoms affecting other
body sites such as bowel and bladder function and the bulbar area, past
medical history, and family history.
Perform a digital rectal examination to asses for anal tone and check for
saddle anaesthesia.
Complete a neurological examination of the arms and cranial nerves,
including fundoscopy and eliciting any cerebellar signs.
Classic cases:
Cerebral palsy: Scenario describing birth injury or illness around the
neonatal period, intellectual impairment, spastic paraparesis, brisk
reflexes, upgoing plantars.
Hereditary spastic paraparesis: Spastic paraparesis, brisk reflexes,
upgoing plantars. Absence of sensory signs.
Friedrichs ataxia: Pes cavus, cerebellar signs, wasting, spastic
paraparesis, reflexes may be absent. Peripheral sensory neuropathy
including dorsal column loss.
Multiple sclerosis: Spastic paraparesis, brisk reflexes, upgoing plantars,
cerebellar signs, and a history of visual or sphincter disturbance. There
may be sensory signs, dorsal column more commonly than
spinothalamic.
Anterior spinal artery occlusion: Spastic paraplegia, brisk reflexes,
upgoing plantars. Loss of pain and temperature with a sensory level;
dorsal columns spared.
Motor neurone disease: Spastic paraparesis, brisk reflexes, upgoing
plantars, wasting, faciculations. Absence of sensory signs.
The possible site of the lesion includes spinal cord (demyelination,
trauma, cord compression due to prolapsed disc or space occupying
lesion, vascular event or congenital myopathic process), anterior horn
cell (motor neurone disease) or parasaggital (meningioma). In more
detail
Congenital: Hereditary spastic paraparesis, Friedrichs ataxia,
spinocerebellar ataxia, or other childhood conditions like cerebral palsy.
Traumatic.
Compressive: Prolapsed disc, tumour (primary or secondary, benign or
malignant), abscess, Potts disease, haematoma or haemorrhage; or a
parasaggital meningioma.
Demyelinating: Multiple sclerosis, neuromyelitis optica (Devics
disease), subacute combined degeneration of the cord, transverse
myelitis (HSV, VZV, HIV, paraneoplastic, autoimmune, radiation),
tropical spastic paraparesis.
Other: Motor neurone disease, syringomyelia, anterior spinal artery
occlusion.
Investigations:
Bedside tests: Blood pressure (autonomic involvement), vital
capacity (respiratory muscle involvement).
Bloods: Bone profile, LFTs, immunoglobulins and protein
electrophoresis (malignancy); FBC, CRP, ESR (malignancy, infection,
inflammation); virology and serology (HIV, HTLV-1, syphilis); anti-
aquaporin 4 IgG antibodies (NMO), ANA (autoimmune
causes); haematinics (B12 deficiency with SACDC).
Imaging: MRI spine (demyelination, trauma, compression; localise site
of lesion, asses for intervention).
Special tests: Visual evoked potentials and MRI brain (multiple sclerosis
for lesions disseminated in time and place), lumbar
puncture (oligoclonal bands in CSF not serum, MCS, AFBs, syphilis, ACE
level), EMG (fibrillation and fasiculations in MND).
Treatment:
orthotics, social services assessment, DVLA considerations.
Medical: Depends on underlying cause steroids (IV
methylprednisolone, PO dexamethasone), radiotherapy.
Surgical: Depends on underlying cause decompression, fixation.
Questions:
What malignancies commonly metastasise to bone? Solid organ ones
like lung, breast, prostate, kidney and thyroid; and haematological
conditions affecting bone should also be considered such as multiple
myeloma.
What is the differential diagnosis of a flaccid paraparesis? Myopathies
(inflammatory, toxic, inherited), neuromuscular junction disorders
(botulism, myasthenia gravis), neuropathy (hereditary motor sensory
neuropathy, alcohol, lead poisoning, porphyria), anterior horn cells
(motor neurone disease).
Cerebellar Syndrome
Scenarios: Clumsiness, falling into things, unsteadiness.
Examining a patient with a cerebellar disorder:
General inspection: Look around the patient for walking aids, and
inspect the patient especially within the hairline and neck for scars
indicative of previous craniotomy, mastoidectomy and trauma.
Screening test: With arms outstretched you should get your first clue
for cerebellar disease when screening for tremor, pronation drift, grip
myotonia and the rebound phenomenon. The latter will also highlight if
it is a unilateral (will need to test CN 5, 6, 7, and 8) or bilateral (will
need to test sensation) phenomenon.
Tone: Reduced (cerebellar), increased (suggests corticospinal tract
involvement).
Power: Normal, pyramidal weakness (suggests corticospinal tract
involvement).
Reflexes: Pendular (cerebellar), increased (corticospinal tract
involvement), reduced/absent (peripheral neuropathy).
Co-ordination: Intention tremor, past pointing, dysdiadochokinesis.
Asses for nystagmus and slurred speech.
If signs were unilateral.check trigeminal motor and sensory, assess
eye movements for a lateral rectus palsy, check facial movements and
assess hearing.
If signs were bilateral.check upper limb sensation, look for an
implantable cardiac device suggesting cardiomyopathy, look at the
finger tips for diabetic finger prick testing marks, inspect the feet for
pes cavus.
Ask the patient to walk (do earlier in a lower limb examination),
including heel-to-toe and rule out sensory ataxia with Rombergs test.
To complete my examination I would like to: Perform a full cranial
nerve, upper limb and lower limb examination including performing
fundoscopy looking for optic atrophy.
Unilateral:
Demyelination.
Vascular including ischaemic or haemorrhagic infarcts and
arteriovenous malformations.
Space occupying lesions within the cerebellar hemispheres or
cerebellopontine angles including tumours (primary or secondary),
abscesses and granulomas.
Bilateral:
Bilateral versions of all the above.
Inherited: Spinocerebellar ataxias, Friedreichs ataxia, ataxia
telangiectasia.
Metabolic: Alcohol, B12 deficiency.
Iatrogenic: Phenytoin, carbamazepine.
Paraneoplastic and endocrine (eg: hypothyroidism).
Investigations:
Bedside tests:
Bloods: FBC (anaemia, macrocytosis, cytopaenias, inflammatory
response), LFTs including GGT (alcoholism and mitotic disease), bone
profile, immunoglobulins and protein electrophoresis (paraneoplastic
cerebellar phenomena), TFTs (hypothyroidism), ESR/CRP (infectious and
immune aetiologies), haematinics (B12 and folate deficiency), drug
levels (phenytoin, carbamazepine).
Imaging: MRI (gives the best images of the posterior fossa).
Special tests: Lumbar puncture (unmatched oligoclonal bands,
infection), genetic testing (friedrichs ataxia and spinocerebellar
ataxias), urinary copper (high in Wilsons), caeruloplasmin (low in
Wilsons), anti-hu/yo (paraneoplastic), coeliac screen (rare cause of
ataxia).
Management:
Non-pharmacological: Counsel, signpost to support and give
supplementary written information; manage within an MDT (general
practitioner, neurologist, cardiologist, psychologist, neuro-
ophthalmologist, neurosurgeon, physio, OT, social care, SALT); avoid
precipitants like alcohol.
Medical: Treat underlying cause,
Fascioscapulohumeral Muscular Dystrophy
Scenarios: Family history of weakness, difficulty using arms, arm
weakness.
How to examine fascioscapulohumeral muscular dystrophy:
General inspection: Bilateral ptosis, myopathic face, wasting of facial
and limb girdle muscles, hearing aids, pacemaker in situ, look for
orthoses for foot drop or a stick indicating mobility issues.
Perform the neurological examination: Proximal weakness, weakness
when arms abducted, winging of the scapula.
Finish off once you know the diagnosis with: Ask patient to whistle
(may find this difficult), ask them to stand so you can examine for
excessive lumbar lordosis (due to weak abdominal muscles), push
against a wall to bring out the winging of the scapulae, and ask them to
walk (looking for bilateral foot drop and waddling gait).
Other muscular dystrophies include limb-girdle (may be enlarged
calves), Duchenne (severe, childhood onset), distal, and
oculopharangeal (complete ptosis, ophthalmoplegia, dysphagia).
Questions:
What is the mode of inheritance? Autosomal dominant.
Friedreichs Ataxia
Scenarios: Difficulty or inability walking, recent insertion of a
pacemaker or ICD, clumsiness, weakness, numbness.
Examining a patient with Friedreichs ataxia:
Speech may sound dysarthric with slurring.
Inspection: Wheelchair (most become unable to walk during their
teens/twenties), other mobility aids or orthotic devices including ankle
braces, on the front of the chest for an implantable cardiac device such
as a pacemaker or defibrillator, at the finger tips for blood glucose
monitoring marks, then ask them to sit forward and inspect posteriorly
for kyphoscoliosis, uncover the feet and demonstrate pes cavus with a
flat palm against the base of the foot.
Screening tests: Look for rebound of outstretched arms on pushing
down with eyes closed, due to the marked sensory ataxia there may
also be wandering of the hands and fingers with eyes closed and arms
outstretched.
Tone: Normal, increased or decreased.
Power: Variable, but there may be a pyramidal pattern of weakness
proximally due to the myelopathic process with weakness and wasting
secondary to neuropathy distally. Note that upper motor neurone signs
are mostly seen in the lower limbs.
Reflexes: Absent, particularly more distally; if allowed to test plantars
or if examining the legs, you will often find that these are upgoing.
Co-ordination: Due to the cerebellar features there may be past
pointing, intention tremor, and dysdiadochokinesis.
Sensation: Peripheral sensory loss, particularly of proprioception and
vibration sense.
Ask them to walk if able.
Given your suspicion for Friedreichs ataxia at this point: Ask them to
open their mouth and inspect for a high arched palate then check eye
movements for nystagmus.
Complete your examination with further examination of cranial nerves,
including fundoscopy for optic atrophy, upper and lower limb
neurological examination, cardiovascular examination and
electrocardiogram looking for evidence of hypertrophic
cardiomyopathy and associated arrythmias, and obtain a urine dipstick
for glycosuria.
Explain that you would like to speak to the patient and ask about any
relevant family history of similar conditions.
Other causes of up going plantars and absent reflexes include:
Subacute combined degeneration of the cord.
Dual pathology: Peripheral neuropathy of any cause combined with
degenerative disease of the spine causing a myelo- or
myeloradiculopathy.
Taboparesis.
Anterior horn cell disease.
Conus medullaris lesion.
But note that few of the above give a unifying diagnosis for a
myelopathic process, peripheral neuropathy (mainly a sensory ataxia)
and cerebellar signs, particularly in the presence of pes cavus. A very
rare mimic is vitamin E deficiency.
Investigations:
Bedside tests: As in the presentation above urine dipstick (diabetes),
electrocardiogram (left ventricular hypertrophy and strain, arrythmias),
fundoscopy (optic atrophy).
Bloods: Genetic testing for a triplet repeat expansion within
frataxin (on chromosome 9), vitamin E levels (rule out vitamin E
deficiency).
Imaging: Echocardiogram (to asses for cardiomyopathy), MRI brain and
spinal cord (atrophic changes may be seen).
Special tests: Electrophysiology.
Management:
Non-pharmacological: Counsel them on the diagnosis, in particular
regarding the familial element (autosomal recessive with triplet repeat
expansion demonstrating anticipation) and increased risk of
cardiomyopathy and diabetes, signpost to appropriate sources of
support, offer genetic counselling; during the course of their illness
they may require input from a broad range of individuals including
doctors (neurologist, cardiologist, general practitioner,
endocrinologist), specialist nurse, physiotherapist, occupational
therapist, speech and language therapist, orthotics team, social care
team; some may wish to discuss elements of advanced care planning.
Medical: Management of diabetes and arrythmias.
Surgical: Orthopaedic correction of spinal and joint deformities;
implantable cardiac device insertion.
Questions:
What is the role of frataxin? It is a mitochondrial protein thought to be
involved in iron homeostasis the mutation in Friedreichs ataxia leads
to reduced levels of frataxin.
Huntingtons Disease
Scenarios: Difficulty holding things, memory loss.
Examining Huntingtons Disease: Look for chorea (large volume,
unpredictable, jerky movements), athetosis (slow, writhing
movements), and hemiballismus (violent, flinging movements); there
may be occasional facial grimaces. As you speak to them note if there is
any dysarthria. During the examination see if you can elicit any features
of ataxia (dysdiadochokinesis, intention tremor, past pointing, broad
based gait), rigidity and bradykinesia. To complete the examination I
would like to
Take a history in particular asking about a family history (if young
female about the possibility of pregnancy or the OCP).
Perform an Abbreviated Mental Test Score.
Complete a full neurological examination including the cranial nerves
and lower limbs, and take a history.
Inherited: Huntingtons disease, Wilsons disease.
Vascular: Stroke, polycythaemia rubra vera.
Immune mediated: Sydenhams chorea, SLE, anti-phospholipid
syndrome.
Hormonal: Pregnancy (chorea gravidarum), OCP use, hyperthyroidism.
Toxic: Anti-psychotics, dopaminergics in Parkinsonian patients, anti-
epileptics.
Infectious: HIV, Lymes.
Paraneoplastic.
Investigations:
Bedside tests: Dipstick pregnancy test (chorea gravidarum).
Bloods: Genetic testing (within a specialised unit with adequate support
it is not preventable or curable; normal <27 repeats, abnormal >40
repeats) and in consideration of the differential diagnosis ANA, anti-
dsDNA, and anti-cardiolipin (SLE and APS); FBC (polycythaemia); LFTs,
urinary copper and caeruloplasmin (Wilsons disease),
and TFTs (hyperthyroidism).
Imaging: MRI and CT brain (rarely useful diagnostically enlarged
frontal horns of lateral ventricles, loss of stratal volume).
Treatment:
Non-pharmacological: Education, highlight support groups, genetic
counselling information (could enable pre-conception decisions to be
made for young individuals), physiotherapy, occupational therapy,
speech and language therapy, DVLA considerations, social services
assessment, support the patient with advanced care planning, district
nurses if pressure sores develop.
Medical: Tetrabenazine (anti-choretic); treat complications such as
depression (SSRIs), rigidity (dopamine agonists, baclofen), and
psychosis (atypical anti-psychotic agents olanzapine, risperidone, also
used for chorea).
Questions:
What is the genetic defect in Huntingtons Chorea? Autosomal
dominant CAG triplet repeat expansion on chromosome 4 which shows
anticipation.
What are the complications of Huntingtons? Seizures, progressive
dementia, psychiatric disturbances including psychosis and depression,
development of rigidity, aspiration pneumonia.
How could someone have Huntingtons without any known family
history? Expansion of the trinucleotide repeat (e.g.: during
spermatogenesis) causing anticipation and thus the expansion size to
enter the clinically significant range, adopted or incorrect paternity,
concealment of the disease in earlier generations (e.g.: suicide,
explained as dementia), and misdiagnosis.
What is Juvenile Huntingtons? Usually associated with triplet repeat
lengths >60, occurs in those <20 years of age, chorea less marked,
rigidity and bradykinesia more pronounced, seizures common (not a
feature of the adult form).
What other autosomal dominant conditions are you aware of? Other
neurological disorders (spinocerebellar ataxia, myotonic dystrophy,
neurofibromatosis), cancer syndromes (BRCA1, BRCA2, FAP, HNPCC,
MEN), and renal disease (ADPCKD, VHL).
Motor neurone disease
Scenario: Weakness, difficulty with fine movements, dropping things,
twitching muscles, dysphagia and slurred speech, inappropriate
laughing or crying.
Examining a patient with motor neurone disease: Note the presence of
any mobility aids at the bedside. On general inspection they may be
slim due to a combination of poor oral intake secondary to bulbar
involvement, and wasting due to the underlying disease process. There
may be a PEG in-situ for assisted feeding. Their speech may be slurred.
Look carefully along the arms and legs for fasciculations and wasting
particularly within the small muscles of the hands (lumbricals and
interossei), thenar and hypothenar eminences and thigh, as they can be
an easy place to spot these features. There may be marked
abnormalities like wrist drop. There may be increased or decreased
tone. There will be weakness on examination and difficulty with fine
finger movements is common. Reflexes may be brisk or absent, plantars
may be upgoing. Co-ordination will be normal within the limits of their
weakness. Sensation will be intact unless there is dual pathology (e.g.:
co-existent diabetic neuropathy). If sure about the diagnosis, and you
have some time at the end, ask the patient to open their mouth and
inspect the tongue for wasting and fasciculations.
Classic cases:
Amyotrophic lateral sclerosis : Form of MND. Mixed upper and lower
motor neurone signs. Almost pathognomonic if you find both within the
same muscle e.g.: fasiculating bicep with a brisk bicep reflex.
Primary lateral sclerosis: Form of MND. Upper motor neurone signs
only.
Progressive muscular atrophy: Form of MND. Lower motor neurone
signs only.
Progressive bulbar palsy: Form of MND. May cause a pseudobulbar
(UMN, small and slow moving tongue, hot potato voice) or bulbar
(LMN, wasted and fasciculating tongue, nasal or donald duck speech)
palsy.
Muscular excitability disorders: A spectrum including benign
fasciculation syndrome, cramp fasciculation syndrome, neuromyotonia
and Morvans syndrome. These typically involve fasciculation but
otherwise normal neurological examination, and can be associated with
anti-voltage gated potassium channel antibodies.
Multifocal motor neuropathy with conduction block: Asymmetrical,
distal arm, lower motor neurone weakness, fasciculations and wasting
causing clawing of the hands. Normal sensory examination. May
respond to IVIg.
Inclusion body myositis: Distal weakness, particularly of the fine finger
flexors. Normal sensory examination.
Cervical radiculomyelopathy: Would include sensory signs. Due to
degenerative spinal disease.
Dual pathology (eg: cervical myelopathy and peripheral neuropathy):
Usually includes sensory signs.
Spinobulbar muscular atrophy: Lower motor neurone weakness,
gynaecomastia, perioral fasciculations, and diabetes.
Chronic inflammatory demyelinating polyneuropathy: Lower motor
neurones affected only.
Investigations:
Bedside tests: Oxygen saturations (respiratory failure,
aspiration), arterial blood gas (respiratory failure hypoxia,
hypercapnia).
Bloods: CK (may be raised in inflammatory myopathies including
inclusion body), anti-GM1 antibodies (multifocal motor neuropathy
with conduction block), TFTs (thyroid dysfunction causing neurological
impairment), CRP/ESR (inflammatory myopathies); consider screening
for malignancy (LFTs, bone profile, protein electrophoresis,
immunoglobulins) or hereditary/rare disorders (toxicology screen
including lead, genetic screening).
Imaging: Magnetic resonance imaging of the spinal cord (to exclude
radiculopathy and/or myelopathy).
Special tests: Electromyography (fibrillation and fasciculations), nerve
conduction studies (normal motor and sensory conduction),
spirometry (respiratory muscle weakness), muscle biopsy (inclusion
body myositis), lumbar puncture (high CSF protein in CIDP).
Treatment:
Non-pharmacological: Education and support, physiotherapy (including
respiratory physio), occupational therapy, DVLA considerations, social
services assessment, dietetics review, speech and language therapy,
advanced care planning (covering areas like assisted feeding, treatment
of aspiration pneumonia, preferred place of care, escalation ceilings,
use of non-invasive ventilation), palliative care input including
community review and access to hospice care.
Medical: Riluzole (disease modifying), hyosceine (respiratory
secretions), diazepam or baclofen (muscle cramps and spasticity),
analgesia.
Questions:
What are the diagnostic criteria used for motor neurone disease? The
revised El Escorial criteria, following review and investigation by a
neurologist.
How does riluzole work? Its a neuroprotector that prevents glutamate
release, shown to prolong life by 2-4 months.
What is the usual mechanism of death? Many have fears regarding
choking and pneumonia, but in reality most patients pass away in their
sleep as a result of hypercapnia.
What should you tell patients about life expectancy? Be honest and
sensitively explain that it is variable with some individuals living over 10
years from diagnosis, and others only 6 months with an average of 2-3
years.
Is motor neurone disease inherited? It is estimated that about 5% of
cases are familial, though if this is the case the patient is usually aware
of it if just their case is known, genetic testing is not warranted.
Myotonic Dystrophy
Scenarios: Weakness, family history of weakness, family history of
problems with general anaesthetic.
Examining a patient with Myotonic Dystrophy: A possible template for
examining a patient who you suspect to have myotonic dystrophy
following initial inspection is:
Inspection: Frontal balding, bilateral ptosis, myopathic facies, wasting
of temporalis + masseter + sternocleidomastoid, delayed eye opening
after tightly closed shut, pacemaker, gynaecomastia.
Focused cranial nerve examination:
3rd/4th/6th: Check eye movements for ophthalmoplegia.
5th/trigeminal motor: clench your jaw for me.
7th/facial: lift up your eyebrows, puff out your cheeks, show me your
teeth. Now scrunch your eyes up as tight as you canand relax them.
11th/accessory: push your face against my hand as if youre looking
over your shoulder. Palpate the sternocleidomastoid as you do this.
Speech: Slurred and low volume.
Palpate for myotonia: Grip-release myotonia (Shake my hand; grip my
fingers and let go), and percussion myotonia (tendon hammer tapped
onto thenar eminence causes dimpling and in drawing of the thumb).
Focused examination of the arms:
Tone: Reduced.
Power and pronator drift: Reduced, distally more than proximally try
to demonstrate to the examiner the functional effects of loss of fine
finger dexterity, and watch out for winging of the scapula.
Reflexes: Absent.
Sensation: soft touch, sharp touch, vibration and percussion sense
should all be normal.
Ask the patient to walk: Bilateral foot drop may be evident.
To complete:
Do a full cardiovascular examination.
Perform fundoscopy for cataracts.
Examine the thyroid for nodules.
Examine the external genitalia for testicular atrophy.
Differential diagnosis: It is often a classical case in the exam, but you
can offer that the differential diagnosis of bilateral ptosis and weakness
in the clinical setting would be myasthenia gravis (fatiguable, no
myotonia), or fascioscapulohumeral dystrophy (prominent face/neck
weakness with winged scapula and proximal weakness, no myotonia).
Another differential they may enquire about is peripheral weakness in
which case consider peripheral myopathy (e.g.: inclusion body myositis)
or peripheral motor neuropathy (e.g.: CIDP, GBS, diptheria, alcohol,
MFMN, critical care neuropathy, lead, porphyria) or anterior horn cell
disease (eg: motor neurone disease).
Investigations:
Bedside tests: finger prick glucose (diabetes), urine dipstick (glycosuria),
electrocardiogram (arrythmias and conduction abnormalities of
cardiomyopathy), fundoscopy (cataracts).
Bloods: Fasting glucose (insulin resistance), HbA1c (insulin
resistance), creatinine kinase (can be raised).
Special tests: Genetic testing (alone this can confirm the diagnosis in all
patients), electromyography (patients may have had this whilst being
investigated but it is not a requirement for diagnosis; burst of repetitive
discharges on needle insertion).
Management:
Non-pharamcological: Genetic counselling, education, physiotherapy,
occupational therapy, speech and language therapy, social care
assessment, CPAP for OSA.
Medical: Medical management of diabetes, arrythmias, symptom
control of constipation.
Surgical: Pacemaker and implantable cardiac defibrillator insertion,
cataract surgery, major surgery to be preceded by careful pre-operative
assessment given anaesthetic risks.
Questions:
What mutation causes myotonic dystrophy? Autosomal dominant
defect involving a triplet repeat expansion in myotonin protein kinase
on chromosome 19. Anticipation is most severe if inherited maternally
(unlike other triplet repeat disorders where it is paternal).
What complications can patients with myotonic dystrophy develop?
Cutaneous: Early frontal balding.
Ocular: Cataracts.
Cardiovascular: Conduction blocks and arrhythmias, cardiomyopathy.
Respiratory: Abnormal sensitivity to barbituates and morphine,
aspiration pneumonia, obstructive sleep apnoea.
Gastrointestinal: Dysphagia, constipation, diarrhoea, deranged LFTs,
gallstones.
Endocrine: Testicular atrophy and infertility, menstrual abnormalities
and miscarriages, insulin resistance and diabetes.
What is the differential diagnosis of bilateral ptosis?
Fascioscapulohumeral dystrophy: Wasting of facial muscles,
sternocleidomastoids and limb girdle muscles, winging of scapula,
bilateral foot drop.
Kearns Sayre syndrome: Severe opthalmoplegia bilaterally, retinitis
pigmentosa.
Myasthenia gravis: Fatiguability, variability of signs, no clear
neurological pattern.
Parkinsons Disease
Scenarios: Falls, memory loss, tremor.
Examining Parkinsons Disease: You need to display the three core
features of bradykinesia, ridigity and tremor; and exclude obvious
differentials including Parkinsons plus syndromes. A possible
examination guide once youve noticed the expressionless face and pill
rolling tremor is as follows:
Inspection: Expressionless face, infrequent blinking, sebhorreic
dermatitis, drooling of saliva, coarse pill rolling tremor, involuntary
movements (treatment side-effect).
Can you tap your left hand (then right) on your knee? Worsening of
tremor.
Can you hold your arms out like this for me? Rule out a postural tremor.
Can you take your index finger and touch your nose and then my finger?
Rule out intention tremor and past pointing.
Gait: Shuffling and festinant gait with loss of arm movement, slow
turning, postural instability.
Tone: Cog-wheel and lead pipe rigidity.
Can you write down a sentence for me? Micrographia.
Can you bring your thumb and index finger together like this over and
over again? Movement gradually diminishes in size.
Look up for me: Supranuclear palsy if they cannot do this, check the
oculocephalic reflex as this should be normal.
Repeat after me baby hippopotamus and british constitution: Slurred
speech.
Inspect the chest for a scar suggestive of deep brain stimulation
operation.
Request: Heart rate and lying and standing blood pressure looking for
autonomic involvement and abbreviated mental test score assessing for
cognitive dysfunction.
Ask patient: Have you noticed a change in your sense of smell, problems
with your memory, having very vivid dreams, or have a family history of
problems with your movement or memory?
Review: History, medications list and ophthalmological review for
Kayser Fleisher rings.
Parkinsons disease and Lewy Body dementia.
Parkinsonn plus: multisystem atrophy, progressive supranuclear palsy.
Parkinsonism: Medications including metoclopramide, haloperidol and
chlorpromazine.
Small vessel disease.
Wilsons disease.
Investigations: Patients should be referred, untreated, to a specialist to
diagnose the condition. The diagnosis is clinical but the following may
be required.
Imaging: CT/MRI (if other causes suspected or patient fails to respond
to L-dopa), single photon emission computed tomography (to
differentiate between PD and essential tremor).
Special tests: Caeruloplasmin and urinary copper (Wilsons disease).
Management:
Non-pharmacological: Physiotherapy (gait re-training), occupational
therapy, speech and language therapy (Lee Silverman Voice
Treatment), inform the DVLA and insurer at diagnosis, social care
assessment may be required, parkinsons specialist nurse support.
Medications: If admitted, ensure timing of medications maintained;
early disease MAO-i, dopamine agonist, levodopa, or amantadine; can
later add in other medications including COMT inhibitor if on levodopa.
Monitor for complication including wearing off, on-off fluctuations,
dyskinesias, hallucinations and psychosis and compulsive behaviours. In
advanced disease further combinations can be trialled, or subcutaneous
apomorphine.
Surgical: Pallidotomy, thalamic surgery, deep brain stimulation.
*Example presentation: This patient presents with features of
extrapyramidal dysfunction characterised by rigidity, bradykinesia and
tremor which I think is most likely idiopathic parkinsons disease. This is
demonstrated by an expressionless face, reduced blink rate,
monotonous voice, asymmetrical pill rolling tremor worse on
distraction, micrographia, cog-wheel and lead pipe rigidity, and a slow
shuffling gait which is slow to initiate with reduced arm swing and slow
turn. There were no cerebellar signs or vertical gaze palsies. My
differential diagnosis in this situation includes idiopathic parkinsons
disease, lewy body dementia, vascular parkinsonism, secondary to
mediations such as anti-psychotics and metoclopramide, and inherited
conditions such as Wilsons disease. To complete my examination I
would like to take a history including performing an abbreviated mental
test score, review the drug cardex, perform a lying and standing blood
pressure, and consider ophthalmological slit lamp review if the patient
was young or had a history of mental health disease or liver
dysfunction. The NICE guidelines state that patients should be referred,
untreated, to a specialist to make the diagnosis and so I would facilitate
this process. In that clinic additional imaging may be requested to rule
out the differentials such as a CT or MRI looking for vascular disease,
or single photon emission CT to distinguish between intention tremor
and PD. I would counsel her on the diagnosis and put her in touch with
our Parkinsons disease specialist nurse, during the course of their illness
they may require input from physiotherapy, occupational therapy,
and speech and language therapy, and if they drive the DVLA and their
insurer should be informed at the time of diagnosis although they would
not necessarily need to stop driving. Should she wish, we could also
explore additional long term management options such as advanced
care planning. Treatment comprises dopamine agonists, levodopa,
MAO-inhibitors, amantadine and COMT inhibitors, or
even subcutaneous infusions of apomorphine. They should be carefully
monitored for side effects including end of dose fluctuations,
hallucinations, psychosis, dyskinesias and compulsive behaviours. If
admitted to hospital, medication timing should be carefully adhered to.
A small number of patients are eligible for additional surgical treatment
such as deep brain stimulation.
Stroke
Scenarios: Weakness, numbness, dysphagia, speech difficulty, visual
loss.
Examining a stroke patient: Look carefully around the bed for walking
aids, orthoses and splints and then from the end of the bed note the
presence of unilateral facial weakness which spares the forehead; an
adducted, flexed and pronated arm; and an extended, plantar flexed
leg. Additional features that may be present are NG tubes, PEG tubes,
and if longstanding, wasting and contractures. When initially speaking
to the patient, listen carefully for slurring (cerebellar); hesitant
and halting speech (expressive); or fluent but incomprehensible speech
(receptive). Ask the patient to walk and note if they circumduct the
affected leg when they walk. On examination search for increased tone
(clasp-knife, clonus), pyramidal weakness (arms: flexors stronger than
extensors; legs: extensors stronger than flexors), hypereflexia, upgoing
plantars, and sensory loss on the affected side. If you have time at the
end (or do it when inspecting etc) have a quick look at the fingertips for
diabetic finger prick testing marks and feel the pulse briefly to asses if
atrial fibrillation is present. If there are marked purpura, consider
whether this is a sign of warfarin use. If the signs are convincingly down
to a stroke, say that to finish the examination you would like to:
Examine the lower limbs and cranial nerves (in order to localise the
lesion and asses impact) and perform fundoscopy (diabetic and
hypertensive retinopathy).
Examine the cardiovascular system (for murmurs and an irregular
pulse) and request a blood pressure (hypertension) and
electrocardiogram (arrhythmias, LVH, ischaemia).
Check the finger prick glucose and dipstick the urine for blood and
protein (diabetes, nephropathy).
Classic cases:
Total anterior circulation stroke (TACS): Homonymous hemianopia (1),
motor-sensory deficit affecting 2/3 of face, arm and leg (2);
accompanied by evidence of higher dysfunction (dysphasia, neglect,
asteroagnosis, reduced GCS) (3).
Partial anterior circulation stroke (PACS): If only 2/3 of the above are
present it is considered to be a PACS (e.g.: dysphasia and motor sensory
deficit).
Posterior circulation stroke (POCS): Cranial nerve deficit with
contralateral motor-sensory deficit, conjugate eye movement disorder,
bilateral motor-sensory deficit, cerebellar dysfunction, or isolated
homonymous hemianopia.
Lacunar stroke (LACS): Produces discrete symptoms affecting 2/3 of
face, arm or leg:
Pure motor stroke.
Pure sensory stroke.
Sensori-motor stroke.
Ataxic-hemiparesis.
Metabolic: Hypoglycaemia, hypercalcaemia.
Intracranial: Tumour (benign or malignant), haematoma,
demyelination, abscess, granuloma.
Neurological: Todds paresis (post-ictal), hemiplegic migraine.
Investigations:
Bedside tests: Blood
pressure (hypertension), electrocardiogram (arrhythmias, LVH,
ischaemia), urine dipstick for protein and glucose (diabetic
nephropathy, hypertensive nephropathy).
Bloods: U&Es (renal failure), fasting
glucose (diabetes), HbA1c (diabetes), lipids (hypercholesterolaemia).
Imaging: Computed tomography of the head (acutely to identify
haemorrhage that will impact on immediate management
strategy), magnetic resonance imaging of the brain with diffusion
weighted imaging (DWI; to confirm the location of the ischaemic event,
gain some information on acuity, search for other infarcts, rule out
differentials could use with gadolinium contrast to assist in the
latter), carotid dopplers (carotid artery stenosis that may warrant
vascular surgery intervention only do this if it is an anterior circulation
stroke, and the patient would be fit for surgery), echocardiogram (valve
disease, thrombus, right to left shunts including a patent foramen
ovale), chest radiograph (cardiomegaly, aspiration).
Special tests: Ambulatory electrocardiograms (24-48 hour tape, event
recorders etc to look for arrhythmias), formal visual field
assessment (may have implications on driving etc), if young or atypical
features screening should also include HIV, hepatitis, ANA, anti-dsDNA,
ANCA, anti-cardiolipin, homocysteine, thombophilia screen etc, MRA,
MRV.
Treatment:
Non-pharmacological: Education, highlight support groups,
physiotherapy, occupational therapy, speech and language therapy,
social services assessment, DVLA considerations, orthotics,
optometrists.
Medical: Acutely once bleed excluded on CT head, if within 4.5 hours
of symptom onset, NIHSS score 4-25, no contraindications and consent
given with a BP <185/110 the patient could receive thrombolysis with
alteplase, with repeat CT scan at 24 hours to rule out bleed and then
move on with aspirin then clopi; if not a thombolysis candidate give
300mg aspirin immediately (PO or PR) for 2 weeks before converting to
clopidogrel 75mg for life. If haemorrhage on CT scan discuss with
neurosurgeons. After the above measures in the A&E dept admit to a
specialist stroke unit, assess risk factors, and obtain an MDT
assessment. Chronically After 2 weeks convert to clopidogrel, unless
the patient has indications for warfarin (e.g.: atrial fibrillation). Do not
aggressively treat blood pressure in the first 2 weeks. Look at starting
anti-hypertensives, statins, diabetic medications etc.
Surgical: Vascular surgery carotid endarterectomy, neurosurgical
intervention for haemorrhagic stroke.
Questions:
What classification systems exist for acute stroke? Bamford System (this
is the system used above in the classic cases section).
Which Bamford system stroke carries the worst prognosis? A total
anterior circulation stroke (TACS) as this carries a high morbidity and
mortality rate.
Syringomyelia
Scenarios: Difficulty walking, numbness, difficulty feeling hot and cold,
pain in the arms and shoulders, neurological symptoms that worsen on
coughing or straining.
Examination of syringomyelia:
Inspection: Make a note of the patients speech at the introduction
dysarthria is suggestive of bulbar involvement. Start by looking around
the bed for wheelchairs and walking aids. There may be evidence of a
Horners syndrome (partial ptosis, anhidrosis, miosis). Deforming
arthropathy may be present due to Charcot joints, and clawing of the
hands may be present, or evidence of injuries including burns,
callosities, and ulcers. There may be pes cavus if you track down to the
feet. On closer inspection of the arms there is wasting and fasciculation
in the arms. If you see this sit the patient forward and inspect the
spine for kyphosis, scoliosis, scars, or a short webbed neck.
Motor examination: Weakness and absent reflexes at the level of the
syrinx if anterior horn cells are involved, and there may be upper motor
neurone signs below this level (increased tone, brisk reflexes, upgoing
plantars).
Sensory examination: Shawl like pattern of pain and temperature loss
over the shoulders and upper limbs at the level of the syrinx, with
normal proprioception and joint position sense (this is called
dissociated sensory loss); but this can be asymmetrical depending on
the syrinx.
On rare occasions when the syrinx extends into the dorsal columns, it
usually causes loss of proprioception and vibration sense in the feet to
begin with.
If you have time: Directed examination of the lower limbs (reflexes,
clonus and plantars) and cranial nerves (inspect the tongue for wasting
and fasciculation, check for weakness of sternomastoids and trapezius,
try to elicit downbeat nystagmus, check for facial sensory loss).
The presence of nystagmus means the syrinx is above C5.
To complete my examination I would like to
Take a history enquiring about symptom onset and progression, and
whether they worsen with coughing or straining.
Examine the neurological system of the lower limbs, cranial nerves, and
perform fundoscopy.
Classical cases:
Klippel-Feil Syndrome: There is a short, webbed neck, and limited neck
movement with a low hairline.
Other conditions which can caused mixed UMN and LMN, or mixed
motor and sensory features and should be considered are dual
pathologies (e.g.: cervical myelopathy and peripheral neuropathy
secondary to diabetes), motor neurone disease, congenital disorders
(e.g: Friedrichs ataxia).
The precipitant for a syrinx within the spinal cord could be:
Congenital: Arnold Chiari I or II, Klippel-Feil Syndrome.
Acquired: Following any of the following within the spinal cord
trauma, tumour, infection, inflammation, bleed.
Investigations:
Imaging: MRI brain and cervical cord (confirm the syrinx, look for
causative lesions such as a tumour or Arnold Chiari malformation).
Treatment:
speech and language therapy, orthotics, DVLA considerations, social
services assessment.
Medical: Analgesia for pain.
Surgical: Shunt, laminectomy, or drainage of the syrinx; posterior fossa
surgery including decompression of the foramen magnum for Arnold
Chiari malformations.
Questions:
What other conditions cause Charcot joints? Diabetes, tertiary syphilis
(tabes dorsalis).
What is Klippel- Feil syndrome? A hereditary abnormality with absence
or fusion of the cervical vertebrae that can sometimes be associated
with neurological abnormalities such as syringomyelia, syringobulbia
and subsequent Horners syndrome.
What are the complications of syringomyelia? From reduced mobility
thromboembolism, pneumonia, pressure sores. From syrinx extension
to medulla respiratory failure. From progressive myelopathy
paraplegia, quadriplegia, Horners syndrome, bowel and bladder
dysfunction.
Why does syringomyelia affect the spinothalamic tract as its earliest
manifestation? Because the spinothalamic tract is unique in that it
decussates within the spinal cord, usually within a couple of levels of
entry. As a result, the crossing tracts are the first to be affected by the
expanding syrinx.
Upper Limb Nerve Palsies
General features:
Look for scars, masses, bony deformities indicative of previous trauma,
wasting.
Ask to arrange nerve conduction studies to confirm the location and
consider imaging such as MRI or musculoskeletal USS.
Erbs Palsy (Upper Brachial Plexus injury; C5-C6):
Inspection: Waiters tip position.
Motor: Weakness of shoulder abduction, external rotation, and
supination.
Sensory: Occasionally reduced on the outer aspect of the arm.
Reflexes: Absent biceps reflex.
Cause: Shoulder dystocia, trauma.
Axillary Nerve Palsy (C5-C6):
Inspection: Wasting of the deltoid muscle and teres minor causing flat
shoulder deformity.
Motor: Weakness of shoulder abduction beyond the initial 15 degrees
Sensory: Regimental badge area on upper outer arm.
Reflexes: Unaffected.
Causes: Trauma, shoulder dislocation.
Radial Nerve Palsy (Motor C5-C8, Sensory T1):
Inspection: Wrist drop.
Motor: Weakness of elbow flexion and extension, wrist extension and
finger extension.
Sensory: Small area on dorsum of hand.
Reflexes: Loss of triceps and supinator reflexes.
Causes: Usually by trauma or compression if triceps reflex affected
from crutches in the axilla, hanging your arm over the edge of a sofa,
fracture/dislocations of the humeral head; if triceps spared from
fractures of the humeral shaft, muscle compression at the elbow; if
only finger extension affected by radial fractures, or muscular and soft
tissue compression in the forearm.
Median Nerve Palsy (C6-T1):
Inspection: Wasting of thenar eminence.
Motor: Weakness of thumb abduction and opposition.
Sensory: Loss of sensation over the lateral 3.5 fingers on the palmar
aspect.
Special tests: Positive Phalens test, positive Tinels test.
Cause: Carpal tunnel syndrome, pronator teres syndrome (pain in wrist
and forearm and thenar wasting) and anterior interosseous syndrome
(difficulty moving index and middle fingers). Causes of CTS include local
trauma or compression from bony abnormalities, soft tissue
abnormalities, and fractures; systemic conditions causing fluid
retention such as renal failure, heart failure, liver failure, pregnancy,
hypothyroidism; or causes of mono neuritis multiplex including
diabetes, vasculitis, autoimmunity, cryoglobulinaemia,
paraproteinaemia and amyloidosis, leprosy, HIV and lymes disease.
Ulnar Nerve Palsy:
Inspection: Clawing of the medial two fingers and wasting of the dorsal
interossei, hypothenar eminence and along medial aspect of the
forearm.
Motor: Weakness of finger abduction and adduction, and thumb
adduction.
Sensory: Loss of sensation over the medial 1.5 fingers on the palmar
aspect.
Special tests: Positive Froments sign.
Cause: Compression at the elbow in cubital tunnel syndrome
(fracture/dislocation, leaning on elbows, bony or soft tissue
abnormalities), compression at the wrist (fracture/dislocation, bony or
soft tissue abnormalities, aneurysm), any causes of mononeuritis.
Brain Stem Death
Brain stem death: Severe and irreversible damage to a part of the brain
called the brain stem, which normally controls the lungs breathing and
other basic functions needed for life. Unfortunately, when such
extensive damage occurs in this part of the brain there is nothing we
can do to reverse the process or make it better. The only thing keeping
the patient alive is the machines which are able to mimic some of the
basic functions of the brainstem for a short time.
Confirming brain stem death: In order differentiate between brain
stem death and severe brain damage. This is confirmed by a Consultant
and another senior doctor, who examine the patient on two separate
occasions and test a number of different brainstem functions to see if
there is any chance of recovery. They will look at things like whether
the patient can breathe by themselves, or respond normally to basic
stimuli like cold or light. If there is no response to any of the tests the
patient is dead, with the machines supporting them.
Pain in brain stem death: Families can be re-assured that the body is
no longer able to feel pain when the brain stem has died; often the
injuries they sustained to the brain were so severe from the beginning
that would not have suffered.
Brain stem death and machine support: In the intensive care unit the
patient is being supported, mainly by a ventilator, that breathes for
them. They may also be receiving other medications to maintain other
basic functions. Once the ventilator is turned off they will stop
breathing, and shortly afterwards the heart will stop. (If they stayed on
the ventilator the heart would continue to beat by itself for a certain
time whilst the lungs continue to breathe, but it would not continue
indefinitely, and eventually the heart would also stop.)
After the diagnosis: Once brain stem death has been confirmed there is
no chance of recovery. The family should be offered time with the
patient to say goodbye, and to have any religious input if they would
like. If the patient is suitable for organ transplant, the family should also
be asked regarding this and the organ donation nurses informed
enquire about being on the donor register, carrying a donor card,
advanced decisions, lasting power of attorney, beliefs and wishes
expressed in the past.
Consent Forms
Consent form 1: Adult patient able to consent themselves.
Consent form 3: An optional form that can be used when consenting
patients for a procedure that does not involve any impairment of
consciousness. It is a modification of form 1 and form 2 (used in
paediatrics) as it is slightly shorter.
Consent form 4: Adult patient who lacks capacity. The ultimate decision
in these situations (unless there is a valid and applicable advanced
decision or an individual with lasting power of attorney) lies with the
Consultant in charge of the patients care based on a best interests
decision. It is customary to get a signature from a family member or
friend who has contributed to the discussion and helped determining
best interests, however, it should be made clear to families that it is
not their decision (from a legal point of view and because placing the
responsibility on their shoulders can lead to significant anxiety and
guilt).
Genetic Testing
Key components of a discussion regarding genetic testing:
Patient must understand how the test is performed (e.g.: a blood test).
There should be a cool off period between your discussion with them
and the test itself during which time, they should be encouraged to
discuss with families and partners, and to read through any relevant
literature or leaflets.
They should receive their results in person, ideally from the person who
initially consented them.
Discuss alternatives (e.g.: screening for breast cancer with
mammography).
Make them aware of the benefits of testing:
Early treatment, prevention, screening.
Possibility of pre-implantation genetic testing.
They should be warned about the negative effects of a positive tests:
On life insurance policies and mortgages.
Implications for other family members (who may not wish to know) and
the patients children (who will then be recognised to be at risk).
The possibility of an inconclusive test should be raised:
Particularly if an affected family member cannot be tested in the case
of patients with a strong history of familial breast cancer, negative
BRCA1 testing of your patient is less informative if you dont know that
BRCA1 is the causative genetic problem in those who have had breast
cancer in their family.
Issues of penetrance and other effects of the mutation should be
explored:
In Huntingtons, the presence of of mutation means there is a 100%
chance of the disease; but this is not the case in other conditions with
incomplete penetrance.
Whilst knowing that you have BRCA1 mutation may allow prophylactic
mastectomy to take place, the patient would then need to consider the
increased risk of ovarian cancer as well.
Possible genetic conditions that may be tested:
Huntingtons disease: If they have an affected parent, there is a 50%
chance (1/2) that they have the mutation too. If you have the mutation,
you will develop the disease. It is recognised that due to changes in the
genes, the children of affected individuals tend to develop symptoms at
an earlier age than their parents. There is no cure, and no treatments
that can prevent the disease occurring. The benefits of testing include
the possibility of a negative test (peace of mind), or the option for pre-
implantation genetic testing for future pregnancies. It will not be able
to tell them when the disease will affect them.
Familial breast cancer: The typically tested genes are BRCA1 (lifetime
risk 80% of breast cancer, 40% ovarian cancer) and BRCA2 (45%).
Different from the above, as in the presence of a significant family
history, a negative test for common genetic causes of breast cancer
(e.g.: BRCA1) does not mean that there is not another genetic mutation
or an as yet unrecognised polymorphism that they have. Markers of risk
include a family history of bilateral breast cancer, male breast cancer
and multiple and/or young relatives affected. The other thing to bear in
mind is that these gene mutations often increase the risk of other
cancers too so getting a positive test and subsequently undergoing
bilateral mastectomy, will not prevent their risk of other cancers (e.g.:
ovarian). Women wishing to reduce their risk should lose weight, stop
smoking, reduce alcohol intake, attend all screening programmes, and
be aware of the increased risk of breast cancer but reduced risk of
ovarian cancer with the OCP, and increased risk of breast cancer with
progesterone containing HRT.
Organ Donation
Has the patient registered? Opportunities to enlist include getting their
driving licence or Boots advantage card, when signing up to a new GP,
or by specifically signing up to the register via telephone, online or text
message. Even if they havent signed up, it is wrong to assume that they
do not want to be a donor (despite widespread support for organ
donation in the UK, <30% of us are registered). Families that are initially
very against the idea, may change their mind, and many are eventually
thankful for having been given the opportunity and time to consider
organ donation and happy that they agreed.
The patient has registered by the family disagree: From a legal point of
view, if a patient has signed up to the organ donor register they are
deemed to have given legal consent. However, in reality, it is felt
necessary to obtain consent from loved ones as well, and it would be
very unlikely that clinicians would ever go against the family if they had
expressed strong wishes against donation.
The patient hasnt registered, there is no advanced decision, there is no
LPA: Important to speak to family and friends about the patients
wishes and beliefs, and what their decision is likely to have been had
they been able to decide themselves. The law then states that it is
ultimately the next of kins decision whether or not organ donation is
allowed.
The process of organ donation: Ideally a member of the transplant
team such as the specialist organ donation nurses are with you during
these conversations. The family should be aware that there are
occasionally reasons why a patient cannot be a donor (e.g: certain
cancers and infections, or ongoing coronial issues) even if they would
wish to be, and that as part of the process of preparing for organ
donation additional blood tests will need to be taken screening for
infections and tissue type. You should inform them that if they do
consent, they can withdraw that consent at any time up until the point
that obtaining the organs in theatre has begun.
Presentations
Try to explore and highlight the ethical, legal and professional aspects
of the case in your presentation to the examiner.
1. Withdrawal of support in brain stem death and offering the option of
organ donation.
Professional: Breaking bad news (GMC duties of a doctor), organ
donation (end of life care).
Legal: Signing up to the organ donor register is deemed sufficient
consent, but could be argued that it does not meet the usual criteria for
informed consent (has capacity, has been given voluntarily, has
sufficient information about the procedure, its consequences and the
consequence of not doing it) ; looking after a patient who lacks capacity
(mental capacity act acting in best interests), if its a possible coroners
case it will need to be discussed with the coroner prior to the organ
donation going ahead, the rules and regulations surrounding organ
donation (human tissue and organ transplantation act).
Ethical: Autonomy (eg: the patient has stated their wishes to be an
organ donor by holding an organ donor card and that wish should be
respected), non-maleficience (eg: psychological distress to the family if
you were to go against their wishes if they did not agree to donation,
and the impact of this on their future relationships with medical
professionals), justice (eg: there is a shor tage of organs in the UK and
the donation of this patients organs could provide a great benefit to
others).
2. A Jehovas Witness refusing a blood transfusion.
Professional: Communication skills and maintaining trust (GMC duties
of a doctor), respect a competent patients decision to refuse treatment
(GMC patients who refuse treatment).
Legal: Freedom of thought, conscience and religion (article 9 of the
human rights act protects the patients decision in this scenario), the
right to life (article 2 of the human rights is relevant to the duty of
doctors to protect the life of an individual), battery (physical contact
without consent).
Ethical: Autonomy (eg: respect their decision, but need to make sure
youve given them all the information they need to make their decision
such as warning hem of the risk of death), beneficence (eg: respecting
their wishes is part of acting in best interests), non-maleficience (eg:
respecting their wishes could ultimately do harm as it would cause their
death, at the same time, not respecting their wishes could have wider
societal implications with people avoiding seeking help due to concerns
regarding doctors not listening to them and loss of trust in the
profession).
3. Breaking confidentiality (an epileptic continuing to drive, an HIV
positive individual engaging in unprotected sexual intercourse with
their unknowing partner, informing the police of a patient involved in
knife or gun crime.
Professional: If a patient will not disclose and you deem it in the public
interest to protect someone else from death or serious harm you
should inform the patient of the breach, document the discussion, limit
the amount of information disclosed and only to those who need to
know, encourage and support them to do it themselves (GMC
confidentiality guidance).
Legal: Right to respect for private and family life (article 8 of the human
rights act is applicable to the person whos confidentiality is being
broken), right to life (article 2 of the human rights act is applicable to
the person or persons whom you are trying to protect such as other
road users, or the partner of the HIV positive patient), reporting gun
and knife crime (Crime and Disorders Act and GMC guidance state that
the police should be informed if there is a patient who is armed with a
knife or gun, or has a gunshot wound, or a non-accidental or non-self
inflicted knife wound you do not initially have to give the patients
name and you do not have to allow police access to the individual
immediately if that will delay or prevent the delivery of adequate
medical care, once the police have arrived you must ask the patient if
they are willing to speak to the police and respect their decision if they
say no; you may breach confidentiality if it is in the public interest to
prevent death or serious harm or the prevention of serious crime),
patients have a legal right to confidentiality (common law) but this is
not absolute,
Ethical: Autonomy (it is the patients decision), beneficence (protecting
the other person or persons from harm is the good thing to do), non-
maleficience (breaching confidentiality prevents others being harmed,
but does harm to the trust within the doctor-patient relationship and
may prevent others seeking help), justice (being fair in adjudicating
between two competing claims of the patients confidentiality on one
hand and the harm to the other person on the other).
4. Managing a patient with tuberculosis who lives in a hostel or is
homeless.
Professional: Contact tracing in this scenario may require breaches in
patient confidentiality but as above the patient should either be
supported in disclosing the risk themselves or if possible you should
facilitate anonymous contact tracing, follow the steps laid out above
(GMC Confidentiality Guidance).
Legal: Public health control of diseases act 1984 (in addition to setting
out the need to report notifiable diseases, it also allows for the
detention of an individual who is suffering from a notifiable disease and
who is unwilling or unable to take precautions to prevent the spread of
infection and as such places others at serious risk of infection), right to
liberty and security (article 5 of the human rights law is relevant for the
person being detained who is having their liberty and security taken
away), right to respect for private and family life (article 8 of the human
rights act is relevant if you are taking the patient away from their family
and work).
Ethical: Autonomy (patients decision to accept or decline treatment),
non-maleficience (preventing harm to the general public by detaining
an infectious individual vs the harm caused to the individual by
detaining them), justice (balancing the competing interests of the
patient with he general public).
5. Explaining a DNAR and other end of life decisions to a relative who
disagrees.
Professional: If there is a disagreement you should explain the
reasoning, offer a second opinion, and consider the use if mediators
(GMC end of life care in Good Medical Practice).
Legal: Nutrition and hydration provided by a drip or tube is a medical
treatment (Airedale NHS vs Bland), there is a legal duty for doctors to
discuss DNAR discussions with patients (Tracey vs Cambridge University
Hospital which was argued as breaching article 8 of the human rights
act with a right to respect for private and family life).
Ethical: Autonomy (patient should decide what is in their best
interests), non-maleficience (a doctor shouldnt provide care that will
be harmful or not beneficial to a patient).
6. Disclosing a mistake or medical error to a patient or their relatives.
Professional: You must act promptly if you think patient safety, dignity
or comfort is being compromised and you must be honest and act with
integrity (GMC Good Medical Practice).
Legal: There may be a claim of medical negligence (to be successful
they must establish that the doctor had a duty of care, that there was a
breach of he appropriate standards of care, and that the breach caused
harm), Bolams test (doctor is not negligent if they acted in accordance
with a responsible/reasonable body of medical opinion, even if that
opinion is in the minority), Bolithos test (the opinion must be able to
withstand logical analysis).
Ethical: Non-maleficience (do no harm recognise that harm has
occurred but learn from it and take positive steps to rectify the problem
and prevent it from happening again).
Procedures
General points: The exam may involve you explaining a procedure to a
patient (or actor). Try to cover the following points:
General procedure.
Benefits of having it done.
Risks of procedure.
Risks of not having it done.
Information leaflet, speak to family, re-discuss at later date, if they feel
anxious medications can be given to relax them.
Coronary angiogram:
General: Tube threaded up to your heart from a blood vessel in your
groin. Dye injected into the blood vessels supplying the heart. X-rays
taken to show the dye in the blood vessels and identify any narrowings.
If narrowings only minor or absent, the condition can be managed with
tablets and monitoring. If there is a narrowing present, depending on
how bad it is, where it is, and how many of them are present we will
hopefully be able to fix the problem there and then by putting a stent in
via the same tube to hold the vessel open. Occasionally, the narrowings
would not be easily treated via stents, in which case, we may instead
advise further procedures to be done on the heart in the future. The
whole procedure usually takes about 30 minutes.
Benefits: Identify how severe the disease is in order to decide on the
best management for the condition in the long term, and hopefully
treat any significant narrowings with stents during the procedure itself.
Risks: Tube inserted via a needle, but local anaesthetic given first to
numb the area, and no pain once the tube is actually inside. Because
were piercing the skin there is always a risk of infection and bleeding,
but this is usually minor and easily treated. We do all we can to prevent
this by cleaning the skin thoroughly beforehand and giving antibiotics if
any signs of infection; checking your blood tests beforehand to identify
any bleeding problems and placing firm pressure on the groin following
the procedure to help the blood clot. It is not uncommon for patients to
feel a strange sensation as the dye is injected in, but this passes soon.
Very rarely, they have a reaction to the dye which we would treat like
an allergic reaction, or the dye affects their kidneys, but this usually
happens in those who already have poor kidney function. Another very
rare complication is that the tube dislodges some of the cholesterol
that is furring up the blood vessel and this can travel to the brain and
lead to a stroke. The chances of this happening, and then of being a
significant stroke that causes a big disability or death is very rare.
If they didnt have it: The reason we would advise this, with all of the
above complications in mind is that it is generally a very safe
procedure, and significant complications are genuinely rare. Many
people are able to have this procedure as a day patient and go home
the same day. Left untreated, the furring of the arteries could continue
and lead to a heart attack that could leave your heart very damaged or
even kill you. We want to prevent this happening, and treat the
problem before it causes any significant problems, whilst also opening
up the blood vessels so that you no longer get chest pain when you
exercise.
Endoscopic Retrograde Cholangio-Pancreatography:
General: Can be performed as an investigation, as a means of obtaining
samples for biopsy, or as a treatment (e.g.: removing gall stones,
stunting a stricture). The patient is generally sedated, and some local
anaesthetic spray given to the back of the throat. We then insert a tube
about the thickness of a finger into their mouth, down the food pipe,
through the stomach, and into the small bowel. At this point we can
access the bile ducts the tubes which drain bile from the liver and
gallbladder, into the gut, and which also connects to an organ called the
pancreas. The procedure itself usually takes around 30 minutes.
Benefits: Diagnose a disease, treat a disease, relieve an obstruction etc.
Risks: There are a few things we will do beforehand to minimise the
potential risks, including giving antibiotics at the start of the procedure
to reduce the chance of infection, and take a blood sample to make
sure the blood in clotting properly. Once we are doing the procedure it
is worth being aware that sometimes they prove technically difficult
meaning that we fail to obtain a sample, or to remove a stone or insert
a stent. In the long run, the disease can also recur. In a small proportion
of cases there are more severe complications. About 1/25 patients
experience irritation of their pancreas called pancreatitis, which can
almost always be managed with treatment on the ward including fluids
and antibiotics, but it can be very painful, and can on very rare
occasions, be fatal. Furthermore, about 1/1000 develop a small tear in
their gut lining, a complication that can be very serious, and potentially
require surgery.
If they didnt have it: Depends on the underlying cause.
Lumbar Puncture:
General: Also called a spinal tap. This common procedure takes about
20 minutes and can be done as an inpatient or as a day case. We do it
in order to get a sample of the fluid that bathes the brain and spinal
cord, to rule out an infection or bleed in the brain. We do this by
getting you to roll onto your side and curl up your legs, we then clean
an area on your lower back and give you some local anaesthetic. Once
that has taken effect we pop a thin needle between the bones of your
spine so we can reach the cavity where the fluid is. Because of the local
anaesthetic it shouldnt be painful but you might feel some pushing and
pulling at the lower back as I do the procedure. Once were in the right
spot Ill let a few drops of the liquid go into the sample bottles that we
send off to the lab, and then Ill remove the tube and put a dressing
over it. After it Ill get you to lie down for a couple of hours, give you
some painkillers and make sure you get plenty of water or tea to drink.
Well need a blood test to be taken sometime around the time of the
spinal tap to do some special tests and compare them to the fluid from
the spine. We should have the results available for you in about 6
hours.
Benefits: Confirm the presence of a bleed or infection so we can give
you the right treatment.
Risks: Because were putting a needle through the skin there is always a
risk of bleeding and introducing infection but we reduce this by
checking your blood tests beforehand to make sure you blood is
clotting properly, and we perform the technique in a sterile manner.
The main problem we tend to find in our patients is that after the
procedure they report a headache it affects about 4 out of every 10
patients who have it done, usually its easily manageable with simple
painkillers and will get better over a couple of hours or days. Also,
sometimes, we may touch a nerve during the procedure and if this
happens you will feel a sharp feeling run down your leg. If that
happens, let us know and we can change the position of the needle
straight away for you. Very occasionally we are unable to find the right
spot in your spine to get the sample if this happens, we will try to re-
adjust our position and this usually works.
Starting a new treatment
Anti-tuberculous therapy: The four key medications, their baseline
tests, monitoring and side-effects are:
Rifampicin: 6 months. Liver dysfunction warn patients to seek medical
advice urgently if they notice yellowing of skin or eyes, fever, feeling
sick, or itching re-assure that mild transaminase disturbance is
common at the start of treatment. Tears and urine become orange
coloured.
Isoniazid: 6 months, with pyridoxine if at high risk of neuropathy
(alcoholic, diabetic, CKD, HIV, malnutrition). Liver dysfunction,
neuropathy warn patients to report numbness of tingling in the arms
and legs.
Pyrazinamide: 2 months. Liver dysfunction.
Ethambutol: 2 months. Document visual acuity with a Snellen chart
before starting therapy. Visual disturbance warn patients to stop
medication and seek medical advice urgently if they notice loss of vision
or specific loss of colour vision.
Special situations to consider:
Homelessness: Ideally therapy is given at home, but may need to be in-
patient (in negative pressure side-room) or as part of Directly Observed
Therapy (DOTs; thrice weekly therapy makes this easier to do). If a
patient cannot be adequately monitored and refuses to stay in-hospital,
they may be kept their against their will as part of the Public Health
(Control of Diseases) Act 1984.
Alcoholics: Involve the alcohol liaison team, monitor more frequently
for liver dysfunction, give pyridoxine prophylaxis from the beginning.
Patients on other medications: Rifampicin will interfere with
contraceptives, warfarin, steroids, and anti-epileptics.
Additional issues to address in a consultation related to this:
HIV testing.
Contact notification and informing Public Health England.
Informing their GP.
Hormone replacement therapy (HRT): Clarify the symptoms the patient
is experiencing (hot flushes, dry skin, itchiness, urinary infections,
dyspareunia, low mood) and their personal/family history (strokes,
heart attacks, clots in leg and lung, breast cancer, osteoporosis). Check
when they had their last period and if they have undergone a
hysterectomy. Then go through:
Benefits: Reduced symptoms, increased bone strength.
Route: Systemic (tablet, patch, implant), local (creams, pessaries, rings).
Alternatives: Vaginal lubricants, SSRIs, complimentary therapies
(beware, some contain oestrogen analogues), reducing alcohol, stop
smoking; also tibolone (oestrogen, progesterone, androgens).
Combined or oestrogen only: The latter should only be used by women
who have had their uterus removed otherwise there is a high risk of
endometrial cancer.
Cyclical or continuous: If women are still having periods you can give it
cyclically to give a withdrawal bleed.
Expected side-effects: Breast tenderness, nausea, leg cramps tend to
settle after a few months; skin irritation from patches.
Dangers: Typically increase with high doses, and longer courses of
treatment include breast cancer and thromboembolism, possibly
heart attacks and strokes.
Non-invasive ventilation:
A way of helping you breathe using a tight fitting mask at those times
when your disease has become so severe that breathing feels difficult,
the muscles of breathing get tired, and waste gases start building up in
your lungs. The mask supports your breathing to give the muscles a
break and help get rid of the waste gases and increase the amount
of oxygen your lungs take in. Whilst it doesnt breathe for you, it will
help each breath you take. Patients often find it strange to start with as
you will feel a bit of resistance as you breathe out this is just to keep
the airways open, and you will find that you will get used to this feeling
with a bit of time. For the first 24 hours youll need to wear it as much
as possible, and we will check your response to treatment with regular
examination and blood tests. After 24 hours we hope to have given your
muscles the break they needed and can start reducing the amount of
time you need to spend on the machine. If it works, most people can
expect to be on the machine for a couple of days more after this.
Indications: Decompensated type 2 respiratory failure with PaCO2 >6
and pH <7.35 following 60 minutes of maximal medical therapy which
would include steroids, nebulisers, and possibly antibiotics. They should
be conscious and able to protect their airway.
Before starting: Explain the above and establish what will happen if this
doesnt work for example, ceiling of care, resuscitation decisions, and
if appropriate, ITU input. If pH is <7.26 decisions regarding intubation
should be made urgently.
Starting therapy: Explain that you will start them on a low pressure
setting (IPAP 10cmH2O, EPAP 4cmH2O) to make it easier to get used to,
and then gradually increase (IPAP target 20cmH20). The final decision
should be made by a doctor who is ST2 or above.
Making escalation decisions: These should be based on patient wishes,
pre-morbid state, reversibility of acute illness, and the presence of any
possible contraindications.
Monitoring: ABG 1 hour after starting and any changes in settings,
repeating in a further 4 hours if patient does not look to be improving
clinically. If a patient continues to deteriorate after having had 4 hours
of NIV you should start planning for intubation if this has been agreed
as being appropriate.
Palliation: Opiates, benzodiazapines, sometimes, people use ongoing
NIV to relieve symptoms but its usually stopped.
Transport Rules
General information on driving: It is the patients duty to inform the
DVLA of the changes in their health, it is your duty to tell the patient
this and ensure they understand why. If you were to find out that the
patient was driving despite this advice, you should discuss it with the
patient again, and tell the patient that if they dont inform the DVLA
you may do so on their behalf. You do not have a duty to do so, but you
would have a defence if you breached their confidence and disclosed
this to the DVLA.
Time frames for not driving: For group 1 licences (i.e.: ordinary car
drivers, not those who drive lorries or taxis etc)
TIA: No need to inform the DVLA, but shouldnt drive for 4 weeks from
the time of the TIA.
Stroke: No need to inform the DVLA, shouldnt drive for 4 weeks from
the time of the stroke, if any residual deficit at the end of this time they
should discuss with the DVLA prior to re-starting driving and will likely
require a medical assessment to decide on this.
Unprovoked first seizure: DVLA should be informed, shouldnt drive for
6 months during this time investigations should be performed and
depending on the results of these and the estimated risk of recurrence,
they may be able to drive again after 6 months, or have to wait until
they have been seizure free for 1 year.
Acute coronary syndromes: Rules vary slightly depending on nature of
MI, treatment given (e.g medical, PCI, or CABG), residual LV function
and plans for further interventions. In general, the DVLA does not need
to be notified and the patient shouldnt drive for 1 week (unless they
did not undergo successful angioplasty, in which case it is 4 weeks).
The dangers of flying: Generally you need to advise patients with
certain disorders to discuss it early with their airline and insurance
company; and if you need further advice you can clarify with the UK
civil aviation authority health unit.
Deep venous thrombosis: General advice to reduce the risk includes
keeping well hydrated (non-alcoholic), keep mobile, avoid tight fitting
clothing on the lower limbs and consider using compression stockings.
Some may need aspirin (e.g: polycythaemia) or LMWH (e.g: malignancy,
personal/family history of VTE, recent major surgery).
Chronic obstructive pulmonary disease: If oxygen saturations are over
95% at rest and the patient can go up a flight of stairs or walk 50m
without becoming overly short of breath they should tolerate a flight
ok. If less than this they may need to consider further investigation by a
respiratory physician to see if supplemental in-flight oxygen is required.
They will gauge this via arterial blood gases and hypoxic challenges.
Diabetes: If they are on insulin they will need a cool bag or cooled
vacuum flask to carry the insulin with them. It should not go into the
hold as it can freeze. They should also carry something sugary with
them in case of a hypo, and look into adjusting their dose of insulin for
a long haul flight across time zones (East take fewer units, West
take more units or additional short acting insulin).
Pulmonary Embolism
Scenarios: Chest pain, breathlessness, cough, coughing up blood, calf
pain.
Questions to ask:
When did the symptoms start, did they come on suddenly or gradually,
and how have they progressed since then?
Any chest pain, pain breathing in, sharp pain?
Any cough, coughing up blood, coughing up phlegm and what colour if
so?
Any calf pain?
Any palpitations, dizziness?
Any recent travel, illness or surgery?
Are you on the oral contraceptive pill or other hormonal contraception?
Is there any chance you could be pregnant?
Any recent weight loss or have you noticed any lumps or bumps
anywhere?
Any fever or chills?
Any other medical problems? Ever been diagnosed with blood clots in
the legs or lung, or cancer?
Are you on any medications? Any allergies?
Any family history of any conditions specifically of blood clots?
Do you smoke, drink alcohol or take recreational drugs?
Are you working at the moment?
Any concerns or specific questions that you have for me?
Systems to examine:
Haemodynamic status: Capillary refill time, pulse rate (tachycardia or
atrial fibrillation), jugular venous pressure.
Respiratory: Sputum pots, peripheral or central cyanosis, pleural rub,
crackles, bronchial breathing, wheeze, bruits.
Cardiac: Right ventricular heave, palpable or loud P2, wide splitting of
S2.
Legs: Calf pain or swelling.
Differentials to exclude:
Vascular: Pulmonary embolism (due to hypercoagulability, endothelial
injury, haemodynamic stasis or turbulence), vasculitis, arterio-venous
malformations.
Parenchymal: Pneumonia, aspiration pneumonia and tuberculosis,
pneumothorax, neoplasia (primary or secondary).
Airways: Bronchiectasis.
Cardiovascular: ACS, aortic dissection, tamponade.
Rareties: Hereditary haemorrhagic telangiectasia, endometriosis, other
embolic sources (septic emboli, fat emboli, air emboli, amniotic fluid
emboli).
Investigations: This is a medical emergency and as such I would see and
assess these patients as a priority to perform an ABCDE and risk
assessment.
Bedside tests: Oxygen saturations (hypoxia), temperature (febrile if
infection), blood pressure (hypotensive if massive PE; both arms if
dissection a possibility), electrocardiogram (sinus tachycardia is the
commonest finding, but look for right heart strain in V1-V3 and III in
particular with T wave inversion and ST depression, or the S1Q3T3
pattern), arterial blood gas (hypoxia, hypocapnoea and alkalosis).
Bloods: FBC (anaemia, thrombocytopaenia), clotting (baseline pre-
anticoagulation), ESR/CRP (infection), LFTs (baseline pre-
anticoagulation, consideration of metastatic disease), bone
profile (metastatic disease), calculate a Wells score and consider the
need for a d-dimer (good negative predictive value so use if suspicion
low), troponin (though may also be positive in PE).
Imaging: Chest radiograph (main reason is to exclude alternative causes
such as mass lesions and consolidation), CT pulmonary
angiogram (filling defects, alternative causes), ventilation perfusion
SPECT (V:Q mismatch; for those with contrast allergy or significant renal
impairment), compression ultrasonography of the legs (deep venous
thrombosis), echocardiogram (can diagnose massive PE).
Special tests: Consider sending a thrombophilia screen prior to initiating
anti-coagulation (eg: multiple previous thromboses, unusual site
thromboses, significant family history), consider screening for
malignancy in unprovoked PEs.
Treatment:
Non-pharmacological: Re-assurance, counsel on anti-coagulation and
its risks and interactions.
Medical: Oxygen, analgesia, start with low molecular weight heparin at
treatment dose (or UFH if significant renal impairment), prior to
conversion to warfarin or NOVACs (e.g.: rivaroxaban) give for at least
3 months if unprovoked, for 3 months if provoked and at least 6
months if cancer; if massive PE (BTS guidelines: Causing circulatory
collapse as evidenced by tachycardia, hypotension, requiring >40% FiO2
and clinical/ECG/ECHO features suggestive of right heart strain) then
1st line therapy is thrombolysis (e.g.: 50mg bolus of alteplase).
Surgical: Inferior vena caval filter (if patient cannot have anti-
coagulation; remove and start anti-coagulation at a later date if
circumstances change), surgical embolectomy.
Questions:
How would your management alter if this was a pregnant woman?
VTE is the biggest direct cause of maternal mortality in the UK.
Non-massive PE investigation: Chest radiography and doppler
ultrasound of the lower limbs to start; a raised d-dimer can simply be a
feature of pregnancy. If I had a reasonable clinical suspicion of PE I
would initiate LMWH prior to further investigation. If these were
unable to explain symptoms I would then proceed to VQ scanning or
CTPA (the former carries a higher risk of childhood cancer, whilst the
latter carries a higher risk maternal breast cancer).
During the scans you and your baby will be exposed to a low level of
radiation. This is no different to radiation that we are being exposed to
all the time from the sun, rocks in the ground and the food we eat.
Whilst we try very hard to avoid exposing patients to extra radiation,
the reality here is that leaving a blood clot undiagnosed and untreated
is of far more danger to you and your child than the small risks from the
scan, as clots can cause long term lung damage and even death.
We will discuss your case with the imaging specialists and take into
account the stage of your pregnancy and your kidney function to decide
which scan is best, and if possible, to alter the scanning process to
reduce the amount of radiation to the lowest dose possible whilst
obtaining useful pictures.
Massive PE: ECHO and CTPA, and consider thrombolysis or IV UFH.
Ongoing treatment: LMWH (continue for at least 3 months and/or until
6 weeks postpartum and graduated compression stockings.
What are the specific changes in pregnancy that put a woman at risk of
VTE? Venous stasis, haemorrhage, pre-eclapmsia and eclampsia, being
an older mother and multiparous also increases risk.
What would be contraindications to thrombolysis? Absolute
contraindications would include haemorrhagic stroke, ischaemic stroke
within 6 months, CNS damage or CNS cancer, major trauma or surgery
within the last 3 weeks, and GI bleeding within 1 month.
What is rivaroxaban? Factor Xa inhibitor that can be used in the
treatment of PE.
What are the other causes of a cough with a normal chest radiography?
Gastro-oesophageal reflux disease, post-nasal drip, asthma and atopy,
medications like ACE inhibitors.
Sudden Loss of Vision
Scenarios: Changes in vision, curtain across vision.
Questions to ask:
When did it start, how has it progressed, has it continued to get worse
or gone away completely?
Is one eye or both eyes affected?
Painful or painless?
Was it preceded by floaters in the eye or flashing lights? Can you see
haloes around lights? Could you zig zag lines across your vision?
Was it associated with weakness, numbness or pins and needles in the
arms or legs, problems with your speech, or a fit?
Have you hit your head recently or done anything that might have
damaged the eye?
How are you feeling otherwise weight loss, fevers, muscle pains,
headaches, rashes, joint pains?
Do you wear glasses short or long sighted?
Any other medical problems specifically, have you ever been told you
have an irregular heart beat or atrial fibrillation, high blood pressure,
stroke or heart attack? If you have diabetes did you measure your blood
sugar during the episode?
Are you on any medications?
Any allergies?
Any family history or eye problems or strokes?
Do you smoke, drink alcohol, or take recreational drugs?
What do you do for a living?
Any concerns or questions for me?
Systems to examine:
Eye:
Look at the eye for obvious asymmetry or abnormality.
Feel the temporal arteries for tenderness, thickening and reduced
pulsations.
Visual acuity.
Visual fields.
Pupils size (fixed and mid-dilated or dilated), RAPD.
Fundoscopy red reflex, swollen optic disc, optic disc pallor, retinal
abnormalities.
Cardiovascular: Feel the pulse for irregularity, listen over the carotids
for bruits, listen to the heart sounds for murmurs.
Complete with a neurological examination if there is time.
Anterior chamber: Acute angle closure glaucoma.
Vitreous: Vitreous haemorrhage.
Retina: Central retinal artery occlusion, amaurosis fugax (transient
obstruction of retinal, ophthalmic or ciliary artery), central retinal vein
occlusion, retinal detachment.
Optic nerve: Optic neuritis, giant cell arteritis.
Intracerebral: Stroke, migraine.
Investigations:
Bedside tests: Blood sugar (low or high), electrocardiogram (atrial
fibrillation), blood pressure (low or high).
Bloods: FBC (polycythaemia, thrombocythaemia), U&Es (renal
impairment), lipids (raised), fasting glucose and
HbA1c (raised), ESR (raised), clotting (deranged).
Imaging: Carotid doppler (for CRAO and amaurosis fugax), MRI or CT
head (ischaemic events), fluoroscein angiography (for CRVO to establish
if laser needed).
Special tests: Temporal artery biopsy (inflammation).
Treatment:
Non-pharmacological: Re-assurance, sign post to information leaflets
and support groups, input from physiotherapy and optometry teams,
consider the need for urgent ophthalmology review or inpatient
assessment.
Medical:
Glaucoma: IV acetazolamide, topical pilocarpine, analgesia, anti-
emetics, surgical or laser iridotomy.
Vitreous haemorrhage: Laser therapy to new vessels, vitrectomy,
optimise diabetic control.
Central retinal artery occlusion: Firm ocular massage if presenting
within 90 minutes, measures to reduce intraocular pressure if
presenting acutely, optimisation of cardiovascular risk factors.
Amaurosis fugax: 300mg aspirin for 2 weeks followed by 75mg of
clopidogrel daily.
Central retinal vein occlusion: Optimise/treat underlying cardiovascular
and haematological diseases, pan retinal focal neovascularisation or
anti-VEGF to prevent neovascularisation.
Optic neuritis: IV then oral steroids.
Giant cell arteritis: High dose oral steroids.
Migraine: High dose aspirin, anti-emetics and triptans.
Questions:
How would you decide when an individual with a history of
amaurosis fugax needs assessment? A combination of the ABCD2 score
and clinical assessment. Those requiring inpatient assessment include
crescendo TIAs (more than 2 in a week) or ongoing symptoms/signs. If
they score 4 or more they need to be seen and investigated in a
specialist clinic within 24 hours, if they score 3 or less, they need to be
seen and investigated within a specialist clinic within 1 week.
Do patients whove had a TIA or amurosis fugax need brain
imaging? Not necessarily it is indicated in those in whom there is
uncertainty regarding the pathology (suspected migraine, epilepsy or
tumour) or vascular territory (as it will affect decision for CEA). Ideally
they should be imaged with diffusion weighted MRI, but a CT head is a
reasonable option if MRI is not available urgently. All TIA/AmFu
patients need dopplers if they have anterior circulation symptoms and
would be potential surgical candidates for endarterectomy.
Syncope
Scenarios: Fainting, palpitations, loss of consciousness, jerking
movements.
Questions to ask:
How many episodes have you had? How long have you been having
them for? Can you think of anything that changed around that time?
Do you get any warning that theyre about to happen palpitations,
chest pain, shortness of breath, dizziness, weakness, headache, change
in sensation, hearing or taste?
What happens when you faint do you lose consciousness and if so for
how long? Has anyone seen you make any unusual movements? Are
you aware of whats happening?
What happens when you come round again have you noticed tongue
biting or incontinence? Can you get yourself off the floor afterwards or
do you need help? Do you feel sleepy or confused?
Have you sustained any injuries?
Any changes in your speech, any weakness or numbness?
Have you ever had anything like this before? Any strokes, seizures, fits,
epilepsy, or problems with the head?
Any other problems you see the doctor for? Any medications? Any
family history?
Do you drink alcohol, smoke or take any recreational drugs?
Systems to examine:
Haematological: Pale palmar creases, conjunctival pallor, purpura.
Cardiovascular: Bradycardia, irregular rhythm, heart murmurs, 3rd
heart sound and basal lung crepitations with peripheral oedema.
Neurological: If focal neurology reported.
Medication and alcohol.
Neurally mediated: Vasovagal, situational, carotid sinus
hypersensitivity.
Cardiac: Brady- or tachyarrythmias, aortic stenosis, outflow tract
obstruction.
Postural hypotension and autonomic failure.
Neurological: Epilepsy (idiopathic or secondary to intracranial lesions),
narcolepsy, cataplexy.
Steal syndromes.
Hyperventilation and panic attacks.
Investigations:
Bedside tests: blood pressure including lying and
standing (hypotension, postural hypotension usually with a drop of >20
systolic or >10 diastolic), electrocardiogram (conduction abnormalities,
sinus bradycardia), finger prick glucose (hypoglycaemia).
Bloods: FBC (anaemia), U&Es (electrolyte
abnormalities), magnesium (electrolyte abnormalities), bone
profile (electrolyte abnormalities), TFTs (hypothyroidism).
Imaging: Echocardiogram (valvular abnormalities).
Special tests: Tilt table testing (postural hypotension), carotid sinus
massage (carotid sinus hypersensitivity), longer ECG
monitoring (ambulatory 24 or 48 hour monitors, event recorders, or
implantable/external loop recorders).
Management:
Non-pharmacological: Advice that if they symptoms coming on that
they get themselves down to the floor, review medication list and stop
contributing agents, avoid precipitants such as alcohol, stay hydrated,
DVLA considerations.
Medical: Treat the underlying cause.
Questions:
What condition would you suspect if the ECG showed right bundle
branch block and ST elevation in V1-V3? Brugada Syndrome.
Thunderclap Headache
Scenarios: Sudden headache, worst ever headache, fit.
Questions to ask:
How quickly did the headache come on over seconds, minutes, hours;
when did this happen, and what were you doing at the time?
How severe was it 0 being no pain at all and 10 being the worst pain
you can imagine?
How long did it take to get that severe over seconds, minutes, hours?
How bad is it now?
Was there any warning that this was going to happen? Do you normally
suffer from headaches (and if so, is this one like your usual
headaches/what made you come into hospital on this occasion)?
What does the headache feel like it and where is it?
Do you have any additional symptoms like nausea, vomiting, neck
stiffness, fever, double vision, reduced vision, weakness, numbness, and
have you had any fits?
Do you have any other medical problems?
Is there a family history of any conditions? Anyone else with headaches
or had problems with the brain?
Do you smoke, drink alcohol, or take recreational drugs (e.g.: cocaine)?
Systems to examine:
Blood pressure, temperature.
Neurological: Acuity, pupils (dilated down and out pupil with ptosis
suggests a posterior communicating artery aneurysm, miosis and partial
ptosis of Horners suggests dissection), fields, movements, fundoscopy
(papilloedema, intraocular haemorrhage), pronator drift, strength,
reflexes, co-ordination, plantars.
Meningism: Neck stiffness, photophobia, Kernings sign (hip and knee
flexed, slowly straighten the knee, positive if they report pain on
extension).
Primary headache: Migraine, coital headache.
Secondary headache: Subarachnoid haemorrhage, cerebral venous
sinus thrombosis, carotid artery dissection, malignant hypertension,
pituitary apoplexy, glaucoma, meningitis, encephalitis and cerebral
abscess.
Investigations:
Bedside tests: Blood pressure (hypertension is a risk
factor), electrocardiogram (QT prolongation, arrhythmias, ST changes).
Bloods: Baseline bloods.
Imaging: Computed tomorgraphy of the head ideally within 6 hours (to
diagnose and exclude differentials, sensitivity of up to 100% within 6
hours if reviewed by a specialist neuroradiologist) followed
by angiography if SAH confirmed to identify the site of the bleed.
Special tests: Lumbar puncture (CT will miss 2% of SAH, so if negative go
onto LP, ideally at 12 hours, looking for xanthochromia the lab will
measure oxyhaemoglobin and bilirubin).
Treatment:
Non-pharmacological: Urgent referral to a neurosurgical centre with
intubation, ventilation, NG feeding etc as necessary.
Medical: Oral nimodipine (reduces risk of vasospasm and subsequent
cerebral ischaemia), analgesia, anti-emetics, anti-epileptics.
Surgical: Open (clipping) or endovascular (coiling) treatment (to prevent
re-bleeding).
Questions:
What genetic conditions are associated with an increased risk of
SAH? Autosomal dominant polycystic kidney disease, Ehlers Danlos
syndrome, Marfans syndrome.
What are the complications of SAH? Re-bleeding, vasospasm and
cerebral ischaemia, hydrocephalus, seizures, epilepsy, death.
Transient Ischaemic Attack (TIA)
Scenarios: Discrete episode lasting <24 hours involving slurred speech,
difficulty swallowing, vertigo, weakness, numbness, visual loss.
Questions to ask:
How quickly did symptoms develop?
How long did the symptoms last for?
Any previous episodes or episodes of visual loss alone?
Was there associated symptoms of slurred
speech/swallowing difficulties/speech difficulties/limb weakness/limb
numbness/facial drooping etc?
Have the symptoms completely gone away now?
Was there aura/headache/pins and needles/fitting/abnormal
movements/incontinence/tongue biting/palpitations/sweating/hunger?
Do you have diabetes (if so was sugar tested during
event)/hypertension/hypercholesterolaemia/MIs/smoking/alcohol/drug
abuse/family history?
Systems to examine:
Feel the radial pulse for atrial fibrillation.
Look for xanthelasma and corneal arcus.
Examine the cardiovascular system, listening in all four areas.
Auscultate the carotids.
*If visual loss was in the history visual acuity, visual fields, eye
movements, fundoscopy.*
Ask for a finger prick glucose, a urine dipstick for
protein/blood/glucose, fundoscopy, blood pressure in both arms, and
an ECG.
Request to proceed to a full neurological examination of the cranial
nerves and limbs including a swallow test (if time allows and patient
sitting in chair consider a focused examination i.e.: Follow 1 stage then
2 stage commands, facial nerve movements, palatal and tongue
deviation, pronator drift, muscle strength in arms, sensation in arms,
finger-nose).
Migraine: Warning signs, positive symptoms, headache, photophobia,
phonophobia, nausea and vomiting.
Epilepsy: Warning signs, positive symptoms, drowsy afterwards, no
recollection of event, urinary incontinence, tongue biting.
Hypoglycaemic episode: Palpitations, sweating, hunger, loss of
consciousness.
Temporal arteritis: If visual loss headache, scalp tenderness, jaw
claudication, painful proximal muscles.
Determining urgency:
Decide it its in the carotid or vertebrobasilar circulation. Use the ABCD2
score Age >60 (1); BP >140s and/or 90d (1); Clinical features of
unilateral weakness (2), speech disturbance without weakness (1),
other (0); Duration >60 minutes (2), 10-59 minutes (1), <10 minutes (0);
Diabetes (1). Scores determine management:
4 or more or crescendo TIA: Specialist investigation within 24 hours.
3 or less: Specialist investigation within 1 week.
The other reason you may request urgent inpatient evaluation are 2 or
more TIAs (including amaurosis fugax) in a week (crescendo), on
warfarin therapy (for urgent imaging to rule out a bleed).
Bedside tests: As requested above.
Blood tests: FBC (anaemia, polycythaemia, thrombocythaemia,
thrombocytopaenia), U&Es (renal failure), bone profile
(hypercalcaemia), glucose (hyperglycaemia) and HbA1c (monitor long
term control), lipids (hyperlipidaemia), clotting (INR), ESR (particularly if
amaurosis fugal, to rule out temporal arteritis); consider if panel
looking for unusual causes warranted (i.e.: <65, lack of risk factors etc)
including viral screening, ANA, anti-dsDNA, anti-
cardiolipin, complement.
Imaging: CXR (aspiration, cardiomegaly), carotid dopplers (significant
stenosis on the appropriate side may warrant surgery, only request if
patient is a surgical candidate), ECHO (embolic source, valvular
pathology, ventricular function, bubble ECHO if PFO suspected), MRI
head with DWI +/- MRA (very sensitive for detecting ischaemia and can
give indication of acuity, can rule out alternatives such as tumours and
dissection).
Special tests: 24-48 hour tape (to rule out underlying arrhythmia such
as AF).
Management:
Non-pharmacological: Smoking cessation, alcohol intake within
suggested limits, healthy diet, weight loss if appropriate, DVLA (no need
to inform, but shouldnt drive for 1 month, or 3 months if 3 or more
TIAs in close succession).
Medical: Aspirin 300mg PO for two weeks followed by clopidogrel 75mg
PO OD (unless AF etc in which case anti-coagulation should be
considered with warfarin or NOVACs), optimise BP/DM/Cholesterol.
Surgical: Carotid endarterectomy.
Upper GI Bleed
Scenarios: Brown or bloody vomiting, abdominal pain, bleeding rectally,
black stools, dizziness, fainting, chest pain, palpitations.
Questions to ask:
When did you first start vomiting?
What colour is it coffee grounds, brown or bloody; and has it been
that colour from the start or did the blood come later?
How much did you vomit up and how many times did you vomit?
Have you been eating and drinking with this?
Any abdominal pain and if so, can you tell me more about that pain?
When did you last open your bowels any blood in the stool or black
and sticky stools?
Any dizziness, fainting, chest pain or palpitations?
Any previous episodes like this and have you ever had a camera test
down the food pipe?
Do you suffer from heart burn or reflux?
Has there been any weight loss recently?
Do you have liver disease?
Do you drink alcohol how much?
Have you used painkillers like ibuprofen or diclofenac recently?
Do you take aspirin or warfarin?
Have you been on steroids or anti-depressants recently?
Any other medical problems?
Do you take any medications? Any allergies?
Any family history?
Do you smoke or take recreational drugs?
What do you think this could be? Do you have any particular concerns
or questions?
Systems to examine:
Haemodynamic status: Capillary refill time, heart rate, jugular venous
pressure.
Abdominal: Peripheral stigmata of chronic liver disease (spider naevi,
palmar erythema, purpura, gynaecomastia, reduced body hair), liver
flap, blood in the oral cavity, telangiectasiae of HHT, Virchows node,
epigastric tenderness, palpable liver.
Ask to perform a digital rectal examination.
Anatomical:
Inflammation, ulceration, malignancy or vascular malformation
(angiodysplasia) at any point from oesophagus, stomach or duodenum.
Mallory weiss tear.
Varices and portal hypertensive gastropathy.
Aortoenteric fistula.
Clotting abnormalities, warfarin use.
Inherited conditions: Hereditary haemorrhagic telangiectasia.
Other bleeding source: Haemoptysis, nose bleed, oral cavity bleeding.
Investigations: This case could be a medical emergency I would utilise
an ABCDE approach ensuring a secure airway and IV access together
with the following:
Bedside tests: Blood pressure (hypotension, postural
hypotension), electrocardiogram (ischaemia secondary to anaemia).
Bloods: FBC (anaemia, thrombocytopaenia), X-match (at least 2 red cell
units, more if significant bleed, and consider the need for other blood
products if large volume transfusions expected), U&Es (urea for
Blatchford score, look for AKI secondary to hypovolemia), clotting and
fibrinogen (correct any abnormalities), LFTs (possibility of vatical bleed
in CLD).
Imaging: Erect CXR (to exclude perforation with air under the
diaphragm, oesophageal perforation, aspiration), endoscopic
evaluation (urgency dictated by Blatchford score and clinical
assessment, can be diagnostic and therapeutic).
Special tests: Angiography (if endoscopy fails to demonstrate the site of
the bleeding and bleeding ongoing or recurrent).
Treatment:
Non-pharmacological: Resuscitate and consider the need for ITU
review, anaesthetic support to secure airway, or immediate
intervention like balloon tamponade (e.g.: Sengstaken Blakemore),
place NBM pending scope.
Medical: IV fluids, blood and other blood product transfusion, anti-
emetics (preferred agent: metoclopramide, as it is pro-kinetic so helps
clear the stomach allowing better endoscopic evaluation); if known
variceal bleed give tazocin and adequately resuscitate so there is no
evidence of ischaemia and at that point consider terlipressin, and post-
endoscopy PPI may be given orally or as an IV infusion for 72 hours,
with h.pylori eradication if duodenal ulcer or CLO positive. Variceal
bleeds should be offered secondary prophylaxis with beta blockers like
propanolol or carvedilol as outpatients with repeat endoscopy in 4-6
weeks time.
Surgical: In those in whom haemostasis cannot be achieved consider
the need for interventional radiology or surgical input (partial
gastrectomy, TIPSS).
Questions:
What is the purpose of the Blatchford score? To decide on need for
endoscopy if you score more than 0 you need an endoscopy, if you
score 0 you can be managed as an outpatient.
What is the purpose of the Rockall score? There is a pre- and post-
endoscopy Rockall score available, with the latter used in predicting
mortality and re-bleed risk.
What are the complications of an upper GI bleed? Hypotensive shock,
organ failure and death, aspiration pneumonia, sepsis, re-bleed,
decompensation of underlying liver disease.
Angina
Scenarios: Chest pains, breathlessness, palpitations.
Questions to ask:
Tell me more about the chest pain where, when, spread, severity,
quality, relieving factors, associated symptoms, previous episodes?
Any associated nausea, vomiting, clamminess, palpitations, fainting?
What are you usually doing when they happen? Have you ever had
them at rest or related to eating?
Any pain in the legs when you walk?
Any shortness of breath, breathlessness lying flat, waking up at night
very short of breath or ankle swelling?
Have you noticed any rashes on the chest or is it painful to touch the
chest?
Do you have any other medical problems specifically, high blood
pressure, high cholesterol, diabetes, previous heart attacks or strokes?
Do you have any family history specifically of heart problems or
strokes? If so how old were your relatives when this happened?
Do you smoke? Drink alcohol? Take recreational mediations?
What do you work as? How have the chest pains affected your work or
family life?
Do you have any particular concerns about what this may be, or any
specific questions that you would like me to answer?
Cardiac: Angina (stable or unstable), myocardial infarction, coronary
spasm, aortic stenosis and other valvular disease or HOCM. If a single
acute episode also think about pericarditis and aortic dissection.
Haematological: Anaemia.
GI: GORD, oesophageal spasm, achalasia, cholecystitis and gallstone
disease.
Respiratory: Pulmonary embolism, pneumothorax, pleurisy, lower
respiratory tract infection.
Musculoskeletal: Rib fracture, muscle damage, costochondritis.
Cutaneous: Shingles.
Systems to examine:
Pulses: Heart rate and rhythm, consider feeling lower limb pulses if
symptoms of PVD reported and you have time.
Heart: Apex beat position, heaves or thrills, heart sounds, added
sounds, murmurs.
Respiratory: Listen for crepitations indicative of heart failure, and
consider alternative diagnoses such as bronchial breathing or pleural
rub, ensure the calves are soft and non-tender.
Abdominal: Feel the epigastrium and right upper quadrant for any
tenderness.
Investigations:
Bedside tests: Blood pressure (raised), electrocardiogram (left
ventricular hypertrophy, atrial fibrillation), urine dipstick (proteinuria,
glycosuria), fundoscopy (hypertensive retinopathy), finger prick blood
glucose (diabetes).
Bloods: Fasting glucose (diabetes), HbA1c (diabetes), cholesterol
profile (hyperlipdaemia), U&Es (renal
impairment), FBC (anaemia), TFTs (thyroid dysfunction), LFTs (prior to
starting statins).
Imaging: Chest radiograph (if features of heart
failure), echocardiogram (if murmurs or features of heart failure).
Special tests: Cardiac catheterisation (to confirm diagnosis, and
consider balloon angioplasty or stenting) if not tolerate or deemed of
lower risk according to NICE guidelines, offer the patient non-invasive
functional cardiac imaging such as myocardial perfusion
scintigraphy or stress echocardiography.
Treatment:
Non-pharmacological: Education and signpost to support groups, warn
about the features that would indicate the need to seek urgent medical
attention (chest pain lasting >20 minutes, not responding to GTN,
unpredictable bouts of angina), warn that they should not drive if
symptoms occur unpredictably/at rest/with emotion/at the wheel (but
DVLA do not need to be notified, their insurer may do), smoking
cessation, maintain healthy weight, healthy diet, exercise, cardiac
rehabilitation (following revascularisation).
Medical: GTN spray for acute episodes, beta blocker or calcium channel
blocker are 1st line for angina, add in long acting nitrates or ivabradine
or nicorandil or ranolazine; unless contraindicated start aspirin 75mg
PO OD (or clopidogrel), a statin and consider ACEi (especially if
diabetic).
Surgical: Coronary revascularisation (CABG or percutaenous
transluminal angioplasty).
Questions:
What would you tell a patient asking about sexual activity? Ok as long
as they can walk up down two flight of stairs briskly, and avoid sildenafil
and similar drugs, if pain develops during sex stop.
How would you manage a patient with suspected acute coronary
syndrome? I would perform an ABCDE assessment as this is a medical
emergency I would give oxygen to maintain saturations, obtain a
chest radiograph to rule out heart failure, mediastinal widening or
differentials such as consolidation; I would request blood pressures in
both arms to ensure there was no significant discrepancy, perform a 12
lead electrocardiogram looking for ST changes, LBBB, q waves and
arrhythmias, obtain IV access and send bloods for baseline and 12 hour
troponin, haemoglobin, venous gas, glucose, cholesterol and renal
function; I would take a history and perform a full systems examination.
If the diagnosis of ACS was confirmed with chest pain, suggestive ECG
changes and/or troponin rise I would give 300mg aspirin, and analgesia
and antiemetics with GTN spray, morphine and metoclopramide, and
ensure they were on a cardiac monitor given the arrhythmic risk. If it
was a STEMI I would liaise urgently with the nearest PCI team. If it was
an NSTEMI or unstable angina it would risk stratify with the GRACE
score which predicts 6 month mortality and utilise this to guide further
investigations and management specifically the need for early
angiography, clopidogrel, anti-thrombin agents and glycoprotein IIb/IIIa
agents. Other agents to commence the patient on if not already taking
are beta blockers, ACE-I and a statin.
Which medications are prone to causing oesophagitis? NSAIDs,
doxycycline, bisphosphonates.
Which medications relax the lower oesophageal sphincter and
predispose to reflux? Nitrates, calcium channel blockers, and anti-
cholinergics including tricyclic anti-depressants.
Palpitations
If regular:
Sinus tachycardia: Anxiety, alcohol excess, caffine excess, recreational
drugs, anaemia, infection, thyrotoxicosis, phaeochromocytoma,
hypoglycaemia.
Supraventricular tachycardia: AVNRT (commonest), AVRT (eg: WPW),
atrial tachycardias.
Torsades de pointes secondary to long QT syndromes: Congenital, drug
induced (e.g.: erythromycin, ketoconazole, tricyclics), low
magnesium/potassium/calcium.
Ventricular tachycardia.
If irregular:
Atrial fibrillation.
Extrasystoles.
Dermatitis Herpetiformis
Coeliacs disease
Investigations:
Bedside tests:
Bloods: FBC (anaemia, raised RDW), haematinics (low folate, low
iron), bone profile and vitamin D (vitamin D
deficiency), clotting (vitamin K deficiency), IgA anti-tissue
transglutaminase antibodies (false negatives if on gluten free diet, or if
IgA deficient), consider testing for other autoimmune conditions if
symptoms present.
Imaging: Endoscopic evaluation and biopsy (villous atrophy, crypt
hyperplasia, intraepithelial lymphocytes).
Special tests: Skin biopsy (direct immunofluorescence for IgA deposition
in the dermis).
Management:
Non-pharmacological: Dietician referral (avoid gluten, can have rice,
some can tolerate low intake of oats).
Medical: Prescribe gluten free foods, emollients, emollients, dapsone
(with close haematological monitoring, consider G6PD deficiency
testing first).
Diabetic Skin Disease
Scenarios: Skin rash, itchy skin, skin ulcer, diabetic follow up.
Questions to ask:
When did you first notice the rash, how did it start, how has it
progressed, have you had anything like it before, is it painful or itchy,
have you had any investigations or treatment for it?
How long have you had diabetes for, how well are your sugars
controlled, do you take tablets or insulin, do you check you sugars at
home, who manages your diabetes, do you know if its affected your
eyes, kidneys or nerves?
Have you had any other symptoms during this time fever, weight loss,
night sweats, lumps or bumps elsewhere, joint pains, problems with you
bowel, bladder or breathing?
Do you develop pain in the legs on walking, what distance can you walk
before this happens, does you ever get the pain when you are lying flat
in bed?
Do you have any other medical problems and are you on any
medications?
Any allergies?
Any family history of any skin conditions?
Have you been abroad recently?
How have these symptoms affected your day to day life?
Patterns of skin disease:
Diabetic ulcer: Painless, deep ulcers over pressure areas associated with
a combination of peripheral neuropathy and peripheral vascular
disease. Need a combination of weight relieving aids, dressings,
antibiotics, and good glycaemic control.
Granuloma annulare: Round, annular, non-tender and non-pruritic skin
coloured lesions; often on dorsum of hands, feet and elbows.
Diabetic dermopathy (shin spots): Round, atrophic lesions on the pre-
tibial area. Become pigmented due to haemosiderin deposition. Usually
multiple and bilateral and may heal with scarring.
Necrobiosis lipoidica diabeticorum: Well demarcated, tender orange-
brown patches with central epidermal atrophy and a waxy appearance
with overlying telangiectasiae. Grow slowly on the pre-tibial area,
tendency to ulcerate if injured with risk of secondary infection. Skin
biopsy shows a granulomatous reaction to collagen. Can use topical or
intralesional steroids.
Diabetic cheiroarthropathy: Seen in longstanding type 1 diabetes,
sclerodactyly with limited joint mobility, thickened and waxy skin.
Diabetic bullae: Spontaneous and typically non-scarring sterile bullae
which can become secondarily infected. Typically affect hands and feet.
Acnathosis nigricans: Seen in insulin resistant states; on flexor surfaces,
the neck and in the axillae; there is velvety thickening and
hyperpigmentation of the skin in discrete patches with associated
papillomatosis. Advise weight loss and rule out an underlying
malignancy.
Eruptive xanthomas: Seen in hyperglycaemia and
hypertriglyceridaemia. Arise as crops of small, yellow papules with an
erythematous rim, often pruritic, resolve spontaneously over weeks.
Vitiligo: Especially in type 1 diabetics as a co-existent autoimmune
disease. Hypopigmented patches, especially in sun-exposed areas.
Systems to examine:
Cutaneous: Finger prick marks of glucose testing, injection site
reactions (lipoatrophy or lipohypertrophy), rashes as above, inspect
within skin folds for candida and staph infections, hair loss,
xanthelasma.
Cardiovascular: Palpate the radial, brachial, carotid, femoral, popliteal,
posterior tibial and dorsalis pedis pulses.
Abdomen: Insulin pump, insulin injection sites for lipohypertrophy or
lipoatrophy.
Neurological: Glove and stocking sensory loss.
Investigations:
Bedside tests: Finger prick glucose (raised), urine dipstick (glycosuria,
proteinuria), fundoscopy (dots, blots, hard exudates, cotton wool spots,
new vessel formation), ankle brachial pressure index (peripheral
vascular disease).
Bloods: FBC (anaemia in renal disease, raised WCC in infection or
inflammation), U&Es (diabetic nephropathy), fasting
glucose (raised), HbA1c (raised), lipids (raised).
Imaging: Duplex ultrasonography (to identify stenosis, and lengths of
occlusions).
Special tests: Skin biopsy (if underlying cause unclear).
Management:
Non-pharmacological: Education, diabetic specialist nurse support.
Medical: Depends on cause but generally to support good glycaemic
control (but not always, for example it has no effect on necrobiosis
lipoidica) and optimise other cardiovascular risk factors, and consider
the need for steroids (eg. In necrobiosis lipoidica), antibiotics, dressings
etc.
Surgical: May be required.
Eczema
Scenarios: Itchy, skin rash.
Questions to ask:
When did you first notice the rash, where did it start, how has it
changed since then, does it come and go, does it seem worse at
particular times of year, is it worse before your period or in pregnancy?
Have you ever had anything like it in the past, any hayfever, asthma,
skin allergies when you were younger?
Does anyone in the family have any of those problems?
Is there anything else you see a doctor for? Any previous operations?
Are you taking any medications at the moment? Any allergies?
Any other medical problems run in the family?
What do you do for a living does that involve any chemicals or
anything that you think may be irritating your skin?
Whos at home with you, any pets?
Any change in bath products or washing liquids or anything like that
recently?
Do you smoke, ever smoked, drink alcohol or take recreational drugs?
How has your mood been recently?
Do you have any particular worries or questions for me today?
Systems to examine:
Cutaneous: Look for the different possible types atopic (often flexural
location), erythrodermic, contact/irritant, pompholyx, discoid, varicose;
and then look for key features such as erythema and lichenification,
fissuring, excoriations, generally dry skin, and any evidence if possible
infection (eg: weeping and crusting of staph aureus, vesicles and
erosions of herpeticum, with the latter being an indication for
admission).
Irritant contact dermatitis: Beneath watch straps, under earrings or
contact points of belts or jewellery, on specific finger tips (eg: chefs
and garlic).
Psoriasis: Particularly the flexural form of psoriasis, look for suggestive
nail changes or involvement in other areas such natal cleft or umbilicus
or hairline.
Discoid lupus: Erythematous scaly patches, mostly in sun exposed
areas, which heal with pigmentation, scaring and alopecia.
Infective: Intertrigo (candidiasis within a skin fold), tinea (dermatophyte
fungal infections that usually are erythematous with minimal overlying
scale and an annular raised edge), and scabies (look interdigitally, very
itchy, excoriations).
Investigations:
Bedside tests: MCS and viral swabs (exclude superadded infection).
Special tests: Biopsy (spongiosis, keratosis, inflammatory infiltrate).
Management:
Non-pharmacological: Educate, supplementary written information,
support groups, involvement from General Practitioner and
dermatologist as required, avoid precipitants and allergens if
appropriate, avoid irritants in clothing such as synthetic materials and
woollen clothes.
Medical: Topical emollients (apply often and liberally, especially if
features of a flare starting with increased irritability, dryness, redness
and swelling), with wrapping to improve absorption, steroids,
tacrolimus; phototherapy; or oral therapy like prednisolone or steroid
sparing agents like cyclosporin, antibiotics and anti-virals if infected.
Questions:
What is the difference between skin prick testing and patch testing?
Skin patch tests are typically used to detect contact allergens which are
causing an irritant dermatitis, whilst skin prick test are used to identify
other allergens including inhaled ones that may be contributing to
asthma or hayfever symptoms.
Erythema Nodosum
Scenarios: Tender rash.
Questions to ask:
When did it start, where did it affect first, how has it progressed, it is
painful or itchy, have you ever had anything like it before?
Can you think of anything that might have triggered it any sore
throats?
Any other problems fever, night sweats, weight loss, lumps or bumps
elsewhere, ulcers in the mouth or down below, shortness of breath,
cough, sputum, blood in sputum, joint pain, diarrhoea?
Any red eyes, problems with your vision or eye pain?
Any other problems you see a doctor for, ever had any operations?
Are you on any medications? Were there any new medications around
the time this problem started? Are you on any hormonal contraception?
Any conditions that run in the family?
Have you ever had or been in contact with tuberculosis? Did you have
the BCG vaccination as a child?
Is there a chance you could be pregnant?
Do you have any particular questions or worries you would like me to
address today?
Systems to examine: For this routine start by examining the legs, then
once your happy that this is erythema nodosum, move to the hands
looking for any evidence of arthropathy, then look inside the mouth for
tonsillitis and ulcers, lean them forward and feel for enlarged parotids
and cervical nodes, then listen to the posterior aspect of the chest, then
sit them back and listen at the apices, especially if older lie them flat
and feel for an enlarged spleen and liver.
Cutaneous: Raised, erythematous tender nodules which progress into
violaceous purpura.
Oral cavity: Enlarged and erythematous tonsils and uvula, ulcers.
Haematological: Cervical lymphadenopathy.
Respiratory: Asymmetry, percussion note, and auscultation focus on
the anterior chest as upper lobe pathology is the most likely given the
possible underlying differentials.
Idiopathic.
Hormonal: Oral contraceptive pill, pregnancy.
Infectious: Tuberculosis, streptococcal infection, Lymes disease,
leprosy.
Rheumatological: Sarcoidosis, rheumatoid arthritis, Behcets disease.
Gastrointestinal: Inflammatory bowel disease.
Haematological: Lymphoproliferative disease.
Mimics: Insect bites, urticaria, purpura.
Investigations:
Bedside tests: Oxygen saturations (pulmonary disease), sputum
samples (if sputum MCS and AFBs), throat
swab (streptococcus), pregnancy test (occasional cause), stool
sample (if diarrhoea MCS).
Bloods: FBC (anaemia, raised white cell count), CRP/ESR (may be
raised), anti-streptolysin O titre (strep throat), blood film/LDH
(lymphproliferative disease), autoimmune panel including ACE,
rheumatoid factor and ANA (autoimmune disease).
Imaging: Chest radiograph (bihilar lymphadenopathy, pulmonary
infiltrates, apical lesions).
Special tests: Skin biopsy (panniculitis, non-caeseating
granulomas), high resolution CT chest (as for the chest
radiograph), bronchoalveolar lavage (if TB suspected but sputum
negative), mantoux or interferon gamma release assay (if no positive
AFB or culture sample but diagnosis of TB still suspected).
Management:
Non-pharmacological: Education, re-assurance.
Medical: Paracetamol, NSAIDs, otherwise treatment of the underlying
cause if required; steroids occasionally used but ensure underlying
infection excluded.
Hypopigmentation
Vitiligo: Non-scarring, well demarcated hypopigmentary macules,
particularly affecting sub exposed areas. Woods light will accentuate
the hypo pigmented patches and bright blue-white patches, particularly
on light skin where it can be difficult to visualise. Check the navel and
scars, ask about genital involvement to assess extent; inspect the hair
bearing areas for associated loss of hair pigmentation. Associated with
other autoimmune conditions (pernicious anaemia, thyroid disorders,
addisons, type 1 diabetes mellitus). Advise avoidance of sun exposure,
high factor sun block, minimise skin injury (Koebner phenomenon),
monitor for other autoimmunity, refer to Changing Faces Camouflage
Service (camouflage cosmetics provider), topical steroids and
calcneurin inhibitors, ultraviolet therapy.
Differential diagnosis: Conditions listed below, potent topical steroid
use, post-inflmmatory hypo pigmentation (e.g.: eczema).
Piebaldism: Autosomal dominant, local absence of melanocytes
affecting skin and hair within that area, many have a white forelock
(area of white hair and scalp which may also affect the the eyebrows
and eyelashes), present from birth, doesnt progress during life.
Pityriasis Versicolor: Multiple macules across the trunk with surface
scale, accentuated by tanning of the surrounding skin, and appearing
hypo pigmented on darker skins (though can appear pigmented on
those with pale skin). Under Woods Light they will fluoresce yellow-
green. Non-contagious and caused by malessezia furfur overgrowth,
especially in hot and humid weather. Treated with ketonconazole
shampoo or selenium washes; or if particularly resistant, oral course
itraconazole. Warn that recurrence is common.
Discoid lupus: Multiple, erythematous, scaly and inflamed patches that
heal with hypo pigmentation, scaring, atrophy and alopecia; particularly
affect sun exposed areas. Check their autoantibody profile (e.g.: ANA,
ENA, anti-dsDNA, RF) and inflammatory markers, and arrange biopsies
with immunofluoresence if there is diagnostic uncertainty. Advise
avoidance of sun exposure, high factor sun block, offer referral to the
Changing Faces Camouflage Service (camouflage cosmetics), topical and
intralesional steroids, oral hydroxychloroquine. 5% progress to SLE so
monitor for systemic features (mouth ulcers, malar rash, serositis, renal
failure, arthropathy, cytopaenias).
Tuberous Sclerosis: Ash leaf macules.
Skin Cancer
Basal Cell Carincoma: Commonest non-melanoma skin cancer. Slowly,
locally invasive, head and neck and other sun-exposed areas.
Transluscent, pearly, overlying telangiectasia, progressing to an
indurated rolled edge with an ulcerated centre. Check for local lymph
node enlargement. Diagnostic or therapeutic biopsy for histology +/-
excision, either traditional surgery or Mohs micrographic surgery,
curettage and cautery, cryotherapy, topical imiquimod, photodynamic
therapy, and radiotherapy.
Gorlins Syndrome: Multiple basal cell cancers, autosomal dominant,
associated with palm and sole pitting, jaw cysts, cataracts, and spine
and rib abnormalities.
Squamous Cell Carcinoma: Indurated, erythematous, nodular,
keratinising, ulcerating lesions. Metastasise to local lymph nodes. Risk
factors include UV exposure, immunosuppression, chemical
carcinogens, human papilloma virus, chronic inflammation, genetic
conditions (e.g.: xeroderma pigmentosum, albinism), and pre-malignant
conditions (e.g.: Bowens disease, multiple actinic keratoses). Can be
confused with BCCs, amelanotic malignant melanoma. Diagnose with
incision or punch biopsy. Utilises TNM staging, metastatic potential
affected by site, size, depth, and concurrent immunsuppression.
Treated with curettage and cautery, topical imiquimod, cryotherapy,
Mohs surgery, and radiotherapy.
Malignant Melanoma: Ask the patient about personal history, family
history, sun exposure, burning and blistering particularly in childhood,
type 1 and 2 skin, outdoor jobs, living in sunny countries in past, and
past sun bed use.There are four types:
Lentigo Maligna: When a patch develops a nodule within it heralding
deep invasion.
Superficial Spreading: Large and flat, grows laterally then horizontally.
Nodular: Rapidly growing pigmented nodule, can bleed and ulcerate.
Differential: Amelanotic MM, pyogenic granuloma.
Acral Lentiginous: Palm, sole, nail.
The dermatologist will examine under a dermatoscope, excise with at
least a 2mm margin (and assess Breslow thickness), and may do
sentinel lymph node biopsies. Screen for spread with FBC, bone profile
and LFTs, and CT CAP. Staged via the TNM system. Treated with wide
local excision, chemo (dacarbazine) and sometimes radiotherapy.
Ulcers
Scenarios: Leg ulcer, painful ulcer, slow to heal injured area.
Questions to ask:
When did you first notice it, how did it start, how has it changed since
then, what treatments have you tried?
Have you had any ulcers like this or elsewhere before?
Is it painful or painless?
Do you have any numbness, pins and needles, pain, or swelling in the
feet and legs?
Do you suffer from varicose veins, and if so have you ever had any
treatments for these, any blood clots in the legs before?
Do you have any heart disease, diabetes, high blood pressure, high
cholesterol, pain in the legs when you walk, previous heart attacks or
strokes or are you a smoker?
Any joint pain, muscle pain, rashes, mouth ulcers, dry eyes and mouth,
painful or white fingers in the cold weather, change in bowel habit with
blood, mucus or diarrhoea?
Any other problems that youve seen a doctor for in the past, any
previous operations?
Are you on any medications at the moment, any creams being used, any
bandaging of the legs being used?
Any medical problems that run in the family?
Whos at home with you and what do you work as?
Any alcohol or recreational drugs?
Any particular worries or questions for me today?
Systems to examine:
Ulcer: Location, size, depth, painful or painless, evidence of infection,
surrounding skin (atrophie blanche, haemosiderin deposition,
lipodermatosclerosis, warty hyperplasia, varicose veins; loss of hair,
callosities; purpuric rashes).
Peripheral vascular and neurological: Feel the temperature, check
capillary refill time, feel the popliteal, dorsalis pedis and posterior tibial
pulses, check joint position, vibration, soft touch and sharp touch
sensation looking for stocking distribution sensory loss.
Geneal inspection for associated conditions: Arthropathy in the hands,
digital ulceration and ischaemic changes, livedo reticularis, abdominal
distension (consider an abdo exam to rule out pelvic masses causing
compression, especially if asymmetrical changes of venous
hypertension are visible).
Venous ulcer: Gaiter area near the medical and lateral malleoli, large,
superficial, relatively painless.
Arterial ulcer: Distal, over pressure areas, deep and punched out,
painful.
Neuropathic ulcer: Distal, sites of trauma, deep, painless; associated
features of diabetes, syringomyelia or tabes dorsalis (tertiary
neurological syphilis).
Necrobiosis lipoidica: Shins, red-brown, depressed and atrophic,
telangiectasia, slowly enlarge, can ulcerate if they encounter trauma,
painful or painless depending on co-existing neuropathy.
Haematological: Sickle cell (punched out, raised margins, deep).
Rheumatological: Vasculitic (punched out, deep), pyoderma
gangrenosum (initial pustule or nodule, breaks down into an ulcer,
violaceous edge, purulent appearance, painful, heals with scarring).
Investigations:
Bedside tests: Ankle brachial pressure index (asses for peripheral
vascular disease as a cause or prior to using compression bandaging),
urine dipstick (glycosuria, proteinuria, haematuria), MCS and viral
swabs (superadded infection).
Bloods: Depends on the underlying cause arterial or neuropathic then
do lipids, fasting glucose; vasculitic or pyoderma do FBC, U&Es,
ESR/CRP, autoimmune panel; if possibility of sickle cell do
haemoglobinopathy screen.
Imaging: Plain radiographs or MRI or bone scan (if deep, and possibility
of underlying infection like osteomyelitis), venous and/or arterial
dopplers (to asses vascular supply of the limb),
Special tests: Biopsy (confirm cause, look for malignant transformation),
patch testing (to rule out allergies to creams and dressings being used).
Management:
Non-pharmacological: Educate, supplementary written information,
general beneficial lifestyle measures (smoking cessation, exercise,
healthy diet, weight loss), MDT approach (GP, tissue viability nurse,
district nurses, dermatologists), arrange medical photography so
progress can be monitored over time and between different teams
involved in the patients care, dressings, graduated compression
bandaging.
Medical: Treat the underlying cause or contributory co-morbidities,
emollients, topical steroids.
Surgical: Re-vascularisation, debridement, amputation, skin grafting.
Questions:
What would you think if an ulcer was slow to heal and how would you
mange it? Re-asses the diagnosis and the management of risk factors,
consider the possibility of malignant change (ie: Marjolins ulcer) or
infection, consider if there is a contact hypersensitivity to the creams or
dressings being used. Management would involve MCS and viral swabs,
dermatology and tissue viability nurse input, and consideration of
biopsy or patch testing.
Acromegaly
Scenarios: Joint pain, change in vision, bumping into things, change in
appearance, gloves/shoes/dentures not fitting, headaches.
Questions to ask:
Have you noticed a change in your appearance?
Have you noticed things not fitting anymore like rings, shoes, gloves or
dentures?
Do you know if you snore at night and if so, is this new or getting
worse?
Have you had headaches, changes in your vision, or increased
sweating?***These are key questions as they are all indicators of active
disease***
Have you been bumping into things at your side?
Have you experienced numbness or tingling in the hands or painful
joints?
Is there any recent change in your bowel habit?
Have you noticed a change in your libido, problems having or
maintaining erections or milk production from your nipples?
Do you have any other medical conditions diabetes, heart disease,
bowel tumours?
What medications are you currently taking?
Are there any conditions which run in your family?
Systems to examine:
Cutaneous: Oily skin, skin tags, acanthosis nigricans, fingerprick marks
of blood glucose testing.
Musculoskeletal: Coarse facial features, prominent supra-orbital ridge,
enlargement of the ears and nose, prognathism, macroglossia, spacing
between the teeth, spade like hands, features of carpal tunnel
syndrome (scar from tunnel release, wasting of thenar eminence,
weakness of thumb abduction and opposition, sensory loss over lateral
three and half digits, positive Tinel and Phalens tests).
Ocular: Bitemporal hemianopia.
Cardiac: Irregularly irregular rhythm, displaced apex beat, 3rd heart
sound, bibasal crepitations on lung auscultation, peripheral pitting
oedema.
Thyroid: Multinodular goitre, galactorrhoea.
So for this routine you should start at the hands, ask them to shake
your hand then turn them over palms up and look for finger prick marks
of diabetes testing, check for a carpal tunnel release scar and look for
thenar muscle wasting, establish if there is reduced sensation at the
little finger vs the thumb and check median motor function with
resisted thumb abduction, utilise Phalens and tinels sign, then move up
the arms, check the pulse and ask for a blood pressure and go to the
face where you should feel over the supra-orbital ridge, look from
above and the side, and assess visual fields for the bitemporal
hemianopia, look inside the mouth for the interdental spacing and
macroglossia, and then ask them to raise their arms so you can see if
there is acanthosis nigricans or skin tags, palpate the apex beat and
auscultate the heart.
Pituitary tumour secreting GH or co-secreting GH and prolactin; these
can be solitary of be part of syndromes such a Multiple Endocrine
Neoplasia Type 1, Carney complex or McCune Albright syndrome.
GHRH or GH production from mitotic lesions such as those in the
hypothalamus or carcinoid lesions.
Cushings Syndrome: Thin skin, purpura, acne, hirsuitism, intrascapular
fat pad.
Hypothyroidism: Coarse facial features, dry skin, loss of outer third of
eye brow, bradycardia, slow relaxing reflexes.
Investigations:
Bedside tests: Blood pressure (raised), electrocardiogram (left
ventricular hypertrophy, arrhythmias), finger prick glucose (may be
raised), urine dipstick (glycosuria), fundoscopy (optic nerve swelling or
atrophy, features of diabetic and hypertensive retinopathy), review old
photographs (looking for changes in physical appearance over time).
Bloods: Random growth hormone (raised), insulin-like growth factor 1
level (raised), oral glucose tolerance test with growth hormone
measurement (failure to suppress growth hormone
production), prolactin (1/3rd will have a tumour that over expresses
both GH and prolactin), thyroid function tests (to rule out
hypothyroidism), LH/FSH (risk of hypopituitarism so reduced GnRH or if
prolactinoma), bone profile (hypercalcaemia of MEN1).
Imaging: MRI pituitary with contrast (masses),
echocardiogram (ventricular hypertrophy, cardiomyopathy).
Special tests: Goldman perimetry (to formally asses for field defects).
Management:
Non-pharmacological: Education, support groups and information
leaflets, physiotherapy and occupational therapy.
Medical: Somatostatin analogues like octerotide (2nd line, once
monthly injections, stop GH secretion, risk of gallstones); alternative
3rd line agents include dopamine agonists (carbergoline), GH receptor
antagonist (pegvisomant) and radiotherapy; optimise complications
such as heart disease, diabetes and obstructive sleep apnoea.
Surgical: Endonasal transphenoidal surgery (1st line, risk of
hypopituitarism or recurrence).
Questions:
What is the commonest cause of acromegaly? Benign growth hormone
secreting tumour of the anterior pituitary called a somatroph adenoma;
very rarely it is due to a pituitary carcinoma, or a GHRH secreting
carcinoid tumour or hypothalamic tumour.
What hereditary conditions pre-dispose to acromegaly?
Carney complex: Autosomal dominant; myxomas of heart and skin,
hyperpigmentation, endocrine tumours.
Familial isolated pituitary adenoma: Autosomal dominant with
incomplete penetrance.
Multiple endocrine neoplasia type 1: Autosomal dominant; parathyroid
hyperplasia, pituitary tumors, pancreatic endocrine tumours.
McCune Albright syndrome: New mutations; bony abnormalities, cafe
au lait patches, overactivity of endocrine glands.
What test can be used to monitor response to treatment? Insulin-like
growth factor 1 levels.
Which features on the history and examination indicate active disease?
Headaches, sweating, bitemporal hemianopia, hypertension, and
hyperglycaemia.
Addisons Disease
Scenario: Tanned skin, change in skin colour, fatigue, abdominal pain,
dizzy spells.
Questions:
Have you noticed a change in the colour of your skin when did you
first notice this, do you have any photographs of what your skin was like
before, have you been anywhere sunny recently, do you have any scars
and if so have any of these changed colour?
Have you been feeling more tired and lethargic?
Have you been feeling dizzy, especially when standing up, or have you
experienced any fainting?
Have you had any chest pain or palpitations?
Have you had any stomach pain, loss of appetite or diarrhoea?
Have you had any fevers, night sweats, cough, weight loss, or have you
noticed any lumps or bumps anywhere?
Any joint pains or muscle aches?
Have your periods changed at all recently?
Do you have any other medical problems have you had any operations
or been to hospital before?
Are you taking any medications?
Is there a family history of any problems, especially of the immune
system?
Have you been in contact with tuberculosis or have you travelled abroad
recently?
Do you smoke, drink or take recreational drugs?
How are the symptoms affecting your day to day life?
Systems to examine:
Cutaneous: Tanned skin with hyperpigmentation visible particularly in
the palmar creases, pressure areas (e.g.: extensor aspect of elbows,
under the bra or belt), scars, nipples and buccal mucosa with areas not
sun exposed also affected, sparse axillary hair; vitiligo, alopecia, scars
from previous tuberculosis treatment, evidence of previous peripheral
auto-amputations following meningococcal sepsis, finger prick glucose
testing marks of diabetes, macroglossia, candida of the skin or oral
mucosa, thyroidectomy scar.
Ears: Feel the ears calcification of the auricular cartilage can occur in
longstanding disease.
Cardiovascular: Tachycardia.
Haematological: Lymphadenopathy.
Neurological: Bitemporal hemianopia, generalised muscle weakness.
Abdominal: Bilateral adrenalectomy scars, depression, anorexia,
multisystem disease with autonomic failure or anaemia.
Iatrogenic: Exogenous steroid withdrawal with subsequent adrenal
failure.
Immune: Autoimmune adrenalitis (alone or with other organ specific
autoimmune disease such as vitiligo, pernicious anaemia, type 1
diabetes).
Infectious: Mycobacterial (tuberculosis), bacterial (meningococcus),
viral (AIDS), fungal (histoplasmosis).
Infiltrative: Sarcoidosis, amyloidosis, haemochromatosis.
Haemorrhagic: Anti-coagulants, anti-phospholipid syndrome (+/- lupus).
Congenital: Congenital adrenal hyperplasia.
Mimics: Nelsons Syndrome.
Investigations:
Bedside tests: Blood pressure lying and standing (postural drop,
hypotension), venous blood gas (hyperkalemic metabolic acidosis,
check lactate), finger prick glucose (hypoglycaemia), urine dipstick (if no
cause found, heavy proteinuria may suggest the nephrotic syndrome of
amyloidosis etc).
Bloods: FBC (lymphocytosis, eosinophilia), U&Es (hyponatremia,
hyperkalemia, raised urea), morning cortisol (low), synacthen test (give
tetracosactide and measure cortisol before and at 30 and 60 minutes,
fails to stimulate cortisol production), ACTH (to identify pituitary
issues), TFTs (may have co-existing thyroid dysfunction, either due to
autoimmunity or pituitary failure), prolactin (may be raised in
prolactinoma), LH/FSH (may be low if pituitary failure), bone
profile (hypocalcaemia due to hypoparathyroidism in APS 1, or
hypercalcaemia related to the Addisons).
Imaging: Chest radiograph (underlying tuberculosis, sarcoidosis,
malignancy), abdominal x-ray (adrenal calcification).
Special tests: Depends on presentation but consider anti-
21 hydroxylase antibodies (autoimmune adrenalitis) and further
imaging and autoimmune screening.
Management:
Non-pharmacological: Education, medic alert bracelet or warning card,
sick day rules, support groups, caution when starting new medications
like enzyme inducers in these patients that may increase clearance of
steroids.
Medical: Acutely the patient will likely require aggressive resuscitation
measures (0.9% saline, 5% dextrose) and steroids (IV hydrocortisone).
Chronically glucocorticoids (oral hydrocortisone 20mg am, 10mg pm),
mineralocorticoids (oral fludrocortisone) and sometimes androgens.
Surgical: Endonasal transphenoidal pituitary surgery if pituitary
adenoma is the cause.
Questions:
Which other conditions can give a generalised increase in
pigmentation? Sun exposure, Addisons, Nelsons, Cushings disease,
haemochromatosis and other iron overload states, liver and renal
failure, and medications (amiodarone, minocycline).
What are the polyglandular autoimmune syndromes?
Type 1: Autosomal recessive AIRE gene mutation which causes
immunodeficiency leading to chronic mucocutaneous candidiasis in
addition to Addions disease, hypoparathyroidism and other organ
specific autoimmune diseases.
Type 2: Addisons disease, type 1 diabetes, hypo or hyperthyroidism.
What are key points to address when counselling a patient with
Addisons disease?
Sick day rules: Double the dose of oral steroid for fever over 37.5 or
infection requiring antibiotics, if vomiting use the 100mg emergency
hydrocortisone injection and seek medical advice urgently, they should
be registered with their local ambulance trust so that any call-outs are
given emergency priority.
Strenuous exercise (ie: marathon): A team mate should know how to
administer emergency hydrocortisone via injection in case of serious
injury, they may need to increase their steroid dose for heavy exercise.
Charcot Foot
Scenarios: Pain in the foot, numbness in the foot, shoes not fitting,
deformity of the foot.
Questions to ask:
When did you first notice you were having problems with your foot, how
has it progressed, have you seen anyone about it?
Do you experience numbness or pins and needles in the feet, does it
affect the hands too, how does this affect your walking, any falls?
Have you had any ulcers painful or painless, any infected ulcers, any
antibiotic courses?
Do you get pain in the calves or the chest when you walk, how long can
you walk before this happens, does it get better with rest?
Any back pain, any problems with bowels or bladder?
What other medical conditions do you have with regards to the
diabetes, when was it diagnosed, how, by who, who follows you up for
this, do you see a podiatrist, do you get photos taken of your eyes, do
you know of any problems with the eyes/kidneys, do you monitor your
own sugars at home, how good do you think your sugar control is?
What medications are you taking? Have you always been on this
treatment for your diabetes or has it changed? Any allergies?
Any problems run in the family, anyone else in the family had nerve
problems?
Do you smoke (ever smoked), drink alcohol, or take recreational drugs?
How are the symptoms affecting your day to day life?
What do you understand has caused the changes in your foot?
What are your concerns about the changes?
Systems to examine:
Cutaneous: Hair loss, ulcers, gangrene, amputations, pes planus,
rockerbottom foot.
Vascular: Capillary refill time, dorsalis pedis, posterior tibial.
Neurological: Soft touch, sharp touch, joint position, vibration sense,
proprioception, reflexes and plantars.
Endocrine: Diabetes.
Infectious: Syphilis (tabes dorsalis), leprosy.
Spinal: Syringomyelia (if upper limb joint affected).
Hereditary: Charcot Marie Tooth.
Investigations:
Bedside tests: Dipstick urine (protein,
glucose), fundoscopy (retinopathy), blood
pressure (hypertension), BMI (raised), electrocardiogram (left
ventricular hypertrophy, ischaemic changes), ankle brachial pressure
index with handheld doppler (peripheral vascular disease).
Bloods: HbA1c (raised), U&Es (nephropathy), lipid profile
(hyperlipidaemia), LFTs (NASH), haematinics (B12), syphilis
serology (tabes dorsalis).
Imaging: Plain radiograph foot and ankle (fractures, ankylosis,
dislocations), MRI foot and ankle (as before, soft tissue oedema,
marrow oedema).
Special tests: Nerve conduction tests (axonal or demyelinating type
pattern).
Treatment:
Non-pharmacological: Education (due to poor glucose control over
many years, likely to mean that there is also damage to the eyes and
kidneys; long term risks include skin and bone infections, amputations,
kidney failure and blindness), healthy lifestyle changes (exercise, diet,
weight loss, smoking cessation, reduce alcohol intake), podiatry
referral, orthotics referral, total contact cast followed by a bespoke
shoe.
Medical: Amend anti-diabetic medications, consider bisphosphonates,
optimise other cardiovascular risk factors including hypertension and
hyperlipidaemia.
Surgical: Amputations.
Questions:
How does an acute Charcot Joint present and how would you manage
it? Acutely, red, hot, swollen foot in an individual with peripheral
sensory neuropathy such as secondary to diabetes. Plain radiographs
and MRI can show changes (fractures despite no trauma history),
though the former may be normal in early disease. You need to offload
the foot in a total contact cast for 3-6 months and advise to avoid
weight bearing. After this time, convert to an individualised shoe from
the orthotics department. Some advocate the use of bisphosphonates.
What is the differential diagnosis of an acute Charcot Joint? Cellulitis,
arthritis (crystal, septic, inflammatory), trauma (fracture, sprain), deep
vein thrombosis.
Cushings Syndrome
Scenarios: Fatigue, weight gain, difficult to control high blood pressure,
acne, increased hair growth, menstrual irregularities, problems
conceiving.
Questions to ask:
Have you been feeling more tired and lethargic recently?
Have you been feeling weak, especially when it comes to getting up
from a chair or climbing stairs?
How has your mood been have you felt low or upset more than usual
or are having trouble sleeping?
Have you noticed any changes in your appearance such as acne,
increased hair growth or weight gain?
Have you been more thirsty than usual, and passing water more often?
Have you had any infections in the last few months for example, skin
infections, urine infections or thrush?
Have you had any pain in your muscles, joints, or back and have you
broken any bones (if so what was the mechanism)?
Have you had your blood pressure and sugars measured recently?
Have you had any cough, coughing up blood, or chest pain?
Do you have any other medical problems or have you undergone any
surgery?
Are you on any medications especially steroids even creams,
inhalers, or nasal sprays, or short oral courses within the last few
months?
Are there any conditions that run in your family?
Do you drink alcohol or smoke?
How are your current symptoms affecting your day to day life?
Systems to examine:
Cutaneous: Raised BMI, thin skin, pigmented skin, lentigines, finger
prick blood glucose marks, purpura, acne, plethoric face and facial
fullness, xanthelasma, hirsuitism, inter scapular and supraclavicular fat
pads, violaceous striae at sites of weight gain, acanthosis nigricans,
bilateral adrenalectomy scars (usually posterior).
Neurological: Proximal myopathy, bitemporal hemianopia.
Musculoskeletal: Spinal tenderness or kyphoscoliosis (osteoporosis,
crush fractures).
So for this routine you would start at the hands looking for thin skin and
easy bruising then turning them palm side up and looking for diabetic
testing marks, carpal tunnel release scars, thenar atrophy, weakness of
thumb abduction, reduced sensation of the lateral 3 and a half fingers
and positive Phalens and tinels tests; I would then scan up the arm and
request a blood pressure, inspect the hair for loss, and the face for
acne, plethora and facial fullness, then ask them to place their hands
behind their head evaluating for acanthosis nigiricans then asking them
to stand from sitting with their arms across their chest to asses for
proximal myopathy. To finish I would get them to sit forward and
percuss down the spine for tenderness or kyphosis suggestive of
osteoporosis and double check that there arent any adrenalectomy
scars.
Iatrogenic: Steroids so look very carefully for features suggestive of a
chronic arthritis, lupus, COPD, skin disease etc that may warrant long
term steroids.
Adrenal: Adrenal hyperplasia, adrenal adenoma, adrenal carcinoma.
Pituitary: Adenoma (Cushings disease), carcinoma.
Hypothalamic: Adenoma.
Ectopic ACTH/CRH: Small cell lung cancer, bronchial carcinoid and other
neuroendocrine tumours in the abdomen, medullary cell thyroid
cancer.
Mimics: Pseudo-Cushings (depression, alcoholism, obesity),
hypothyroidism, late pregnancy.
Investigations:
Bedside tests: Blood pressure (raised), finger prick glucose
test (raised), urine dipstick (glycosuria), venous blood gas (hypokalemic
metabolic alkalosis, hyperglycaemia), review of old photos (examine for
changes in appearance over time), pregnancy test (can
mimic), electrocardiogram (LVH criteria), fundoscopy (cataracts).
Bloods: Low dose dexamethasone suppression test (unsuppressed,
confirms cortisol excess), 24 hour urinary cortisol (raised, confirms
cortisol excess), U&Es (hypokalemia), FBC (increased infection risk so
look at WCC), fasting glucose (raised), HbA1c (raised), lipids (raised).
Imaging: CXR (underlying lung lesion), echocardiogram (if features of
cardiac dysfunction).
Special tests: ACTH (high suggests pituitary source), high dose
dexamethasone suppression test (suppressed suggests adrenal cause,
unsuppressed suggests ectopic source), CRH (hypothalamic source or
ectopic), MRI pituitary (for mass lesion but ?incidentaloma), bilateral
inferior petrosal sinus sampling (to confirm that excess ACTH is coming
from pituitary source and not ectopic), CT abdomen (adrenal mass,
adrenal hyperplasia, ectopic sources like neuroendocrine tumours in
pancreas), CT chest (pulmonary lesion and metastases), somatostatin
receptor scintigraphy (for neuroendocrine tumours), USS
thyroid (identify possible medullary cell lesions for FNA), PRKAR1A
mutation analysis (Carney complex); dual energy x-ray
absorbiometry (DEXA; to asses for osteoporosis).
*ExampleI would like a baseline panel of blood tests looking for
features such as a hypokalemic metabolic alkalosis however the specific
tests for Cushings are to first confirm hypercortisolism with either a 24
hour urinary cortisol measurement or low dose dexamethasone
suppression test looking for failure of suppression. I would then proceed
to localise the source by measuring the ACTH and considering a high
dose dexamethasone suppression test the latter would typically show
suppression in an adrenal cause. Further tests based on these findings
include bilateral inferior pertrosal sinus sampling and imaging.
Management:
Non-pharmacological: Education, support regarding physical changes,
smoking cessation advice, optimising modifiable cardiac risk factors,
warn regarding side-effects of reducing their cortisol level (malaise,
joint pains etc, and possibility of addisonism post-treatment); if
iatrogenic, review patient and liaise with specialists if required to slowly
wean down steroid dose and/or to consider steroid sparing agents.
Medical: Somatostatin analogues (octerotide), anti-glucocorticoids
(metyrapone, ketoconazole; adjuvant therapy for adrenal carcinoma),
optimise co-morbidities especially cardiovascular, may need post-
operative or post-radiotherapy hormone replacement,
Surgical: Removal of the underlying tumour or adrenelecomy (first line),
radiotherapy
Questions:
What is Carney complex? Autosomal dominant condition, multiple
lentigines, atrial myxoma, adrenal overproduction of cortisol leading to
Cushings syndrome.
What is Nelsons syndrome? Can occur in patients who have undergone
bilateral adrenalectomy leading to the unmasking of a pituitary
adenoma which in the absence of any negative feedback rapidly
expands in size. Suspect if the patient becomes very pigmented, has
headaches, and starts bumping into things. They should be monitored
post-operatively with serial ACTH levels and MRIs.
What are the commonest causes of Cushings syndrome? Most cases
are due to exogenous steroids. Of those caused by endogenous cortisol
excess, the commonest cause is an ACTH secreting pituitary adenoma
(Cushings disease).
Patients with many endocrine diseases are at risk if osteoporosis, what
is the definition of this term? It is defined as a bone density if more than
2.5 standard deviations below the mean value for an adult of the same
gender and race (ie: T score > -2.5).
Hyperthyroidism
Scenarios: Weight loss, anxiety, tremor, palpitations, diarrhoea,
menstrual irregularities.
Questions to ask:
Have you noticed a swelling in your neck any problems with
swallowing, breathing, or have you noticed your voice becoming husky?
Do you tend to feel anxious, restless and hot recently?
Have you lost any weight and if so is this despite a normal or
increased appetite?
Have you noticed any skin changes?
Have you experienced tremors, palpitations or shortness of breath?
Have you noticed a change in the appearance of your eyes, double
vision, changes in how you see colours, or eye pain? Does the red and
green of traffic lights look as distinct to you at the moment?
Have you been feeling weaker for example, have you found it
difficult getting out of a chair or going up a flight or stairs?
Have you had diarrhoea?
Have your periods been lighter than normal?
Do you have any other medical conditions? Do you have asthma (as you
will want to use a beta blocker)?
What medications are you on?
Are there any conditions that run in your family?
Are you pregnant or planning to conceive a family? Do you have
children at home (will affect your feelings about radio iodine)?
Do you smoke?
Systems to examine:
Cutaneous: Palmar erythema, tar staining, thyroid acropachy, tremor of
outstretched hands, slim, sweaty, restless, pre-tibial myxoedema.
Ocular: Exophthalmos, lid retraction, conjunctival injection, exposure
keratitis, chemosis, tarrsorrhaphy, ophthalmoplegia, lid lag, red
desaturation, relative afferent pupillary defect. Note that lid lag and lit
retraction are just features of hyperthyroidism and are not specific to
Graves.
Neck: Goitre smoothly enlarged, multi-nodular or single nodule;
thyroid bruit, presence or absence of retrosternal extension and
lymphadenopathy.
Cardiovascular: Tachycardic, irregularly irregular pulse, systolic flow
murmur.
Neurological: Proximal myopathy, brisk reflexes.
Iodine abnormalities: Iodine excess (Job Badestow effect).
Iatrogenic: Amiodarone, levothyroxine.
Thyroid: Single nodules, multi-nodular goitre, post-partum thyroiditis,
De Quervains/subacute thyroiditis.
Ectopic: TSH secretion from pituitary mass, TRH secretion from
hypothalamic mass, ectopic TSH production from struma ovari (ovarian
teratoma containing thyroid tissue) or beta hcg production from
hydatidiform mole or choriocarcinoma.
Investigations:
Bedside tests: Electrocardiogram (sinus tachycardia,
arrhythmia), pregnancy test (for interpretation of results, and
implications on treatment), blood pressure (can cause
hypertension), temperature (can cause fever), visual acuity and
fundoscopy (if not done already to asses for sight threatening disease;
papilloedema, optic atrophy).
Bloods: TFTs (low TSH, high T4), anti-thyroid peroxidase (positive), anti-
thyroglobulin (positive), anti-TSH receptor antibodies/TRAbs (positive).
Imaging: Not routinely required. Echocardiogram (if features of high
output cardiac failure), radio-iodine scan (to identify hot nodules or
diffusely low uptake of De Quervains vs high uptake of Graves).
Management:
Non-pharmacological: Education, smoking cessation.
Medical: Beta blockers (i.e.: propanolol), eye drops, lubricants and
selenium supplementation; carbimazole, propylthiouracil (for 1st
trimester pregnancy), occasionally block and replace is used with
thyroxine (for example in someone with significant eye disease). Treat
for 18 months then review.
Surgical: Radio-iodine, subtotal thyroidectomy.
Questions:
What other conditions can mimic Graves ophthalmopathy? Peri-orbital
oedema in hypothyroidism and the nephrotic syndrome, orbital/optic
nerve mass/cavernous sinus mass.
What are the problems with treating a patient with radio-iodine? Eye
disease can get worse precipitating malignant Graves eye disease, and
cannot be used in pregnancy, breastfeeding, or those with iodine
allergy; patients remain radio-active following treatment. Because of
the latter they should avoid close contact with other people for 12
days, and with pregnant women and children for 30 days. Those with
urinary incontinence will need a catheter inserted.
How would you manage a patient with severe Graves
ophthalmopathy? Advise smoking cessation, discuss urgently with
ophthalmology regarding possible treatments which could include high
dose steroids, radiotherapy or surgical decompression.
What are the long term risks of hyperthyroidism? Heart failure,
arrhythmias, hypertension, osteoporosis.
What are the risks of carbimazole and
propylthiouracil? Agranulocytosis.
Why does eye disease develop in Graves? Glycosaminoglycan
deposition in the skin and extra-ocular muscles.
What would be the indications for urgent admission/referral in those
with thyroid disease? Psychosis, fast atrial fibrillation or heart failure, or
very dehydrated secondary to severe diarrhoea, goitre causing
dysphagia or difficulty breathing, and someone with thyroid eye disease
and reducing visual acuity, change in colour vision, opthalmoplegia,
optic disc swelling or if sudden and progressive.
Hypothyroidism
Scenarios: Fatigue, constipation, menorrhagia, weight gain, hair loss,
dry skin, tingling in the hands.
Questions to ask:
Have you been feeling more tired and lethargic recently?
Have you had a low mood or felt that your memory isnt as good as it
used to be?
Have you been sleeping well does your partner say that you snore or
stop breathing at any times at night?
Do you tend to feel cold all the time?
Do you have muscle pains?
Have you experienced weight gain or any changes in your skin or hair?
Have you had any constipation?
Have your periods been heavier than normal?
Have you noticed any lumps in your neck if so, have you experienced
difficulty breathing, difficulty swallowing or pain?
Do you have any other medical conditions?
Are you on any other medications?
Are there any conditions that run in the family?
How is this affecting your day to day life?
Systems to examine:
Voice: Hoarse, deep, cognitive slowing.
Neck: Goitre, previous thyroidectomy scar.
Cutaneous: Raised BMI, dry skin, puffy hands and face, pale palmar
creases and conjunctival pallor, hair loss, loss of outer third of the
eyebrow, peri-orbital oedema, xanthelasma; vitiligo, finger prick testing
marks of diabetes, pigmented skin of Addisons.
Neurological: Thenar eminence wasting, loss of sensation lateral 3 and
a half fingers, positive Tinels and Phalens tests, delayed relaxation of
reflexes.
Cardiovascular: Cool peripheries, bradycardic.
Respiratory: Reduced asymmetrical chest expansion, stony dull
percussion note, reduced air entry, reduced vocal resonance.
Immune: Hashimotos thyroiditis, atrophic thyroiditis.
Iatrogenic: Radio-iodine therapy, amiodarone, lithium, interferon alpha.
Iodine abnormalities: Deficiency (commonest cause worldwide), excess
(Wolff Chaikoff effect).
Infiltration: Riedels thyroiditis, amyloidosis, haemochromatosis,
sarcoidosis.
Congenital: Thyroid agenesis, dyshormonogenesis.
Secondary: Pituitary failure.
Investigations:
Bedside tests: Blood pressure (lying and standing blood pressure for
Addisons), pregnancy test (tight control of TFTs required).
Bloods: Thyroid function tests (high TSH, low T4), anti-thyroid
peroxidase antibodies (positive >90%), anti-thyroglobulin
antibodies (positive >90%), FBC (normo- or macrocytic
anaemia), creatinine kinase (may be raised), lipids (raised cholesterol
and triglycerides).
Imaging: Ultrasound (if there is asymmetry or nodules are felt).
Management:
Medical: T4 (levothyroxine, start low and titrate up every month; then
monitor annually).
Questions:
Would you treat somebody with subclinical hypothyroidism? There are
risks to treatment including reduced bone mineral density and
arrhythmias, but there are some individuals who have a high
probability of developing clinical disease antibody positive, previous
radio-iodine therapy or Graves disease, other organ specific
autoimmune disease, or TSH>10.
What other diseases are common in those with hypothyroidism? Type 1
diabetes mellitus, autoimmune hepatitis, primary biliary cirrhosis,
vitiligo, pernicious anaemia.
What signs would specifically suggest that the patient is hypothyroid
following treatment of Graves disease? Thyroid acropachy,
exophthalamos, ophthalmoplegia, pre-tibial myxoedema,
thyroidectomy scar.
Crohns Disease
Scenarios: Abdominal pain, weight loss, change in bowel habit,
blood/mucus PR.
Questions to ask:
When did the symptoms start? Describe them, severity, factors
which relieve and exacerbate them, progression, previous episodes?
Associated symptoms change in bowel habit, diarrhoea, constipation,
blood/mucus, vomiting, nausea, weight loss, night sweats, fever?
Extra-intestinal features mouth ulcers, sore or red eyes, change in
vision, joint or back pains, rashes, yellowing of the skin?
Systems review dysuria, frequency, vaginal discharge, dyspareunia,
IMB/PCB, menhorragia, last period, pregnancies, risk of currently being
pregnant?
Initial diagnosis when, follow up, treatments, surgeries, colonoscopies,
complications?
Do any conditions run in your family, do you have a history of bowel
problems specifically?
Any recent travel, contacts unwell, change in diet, smoking, alcohol,
recreational drugs, risk factors for HIV?
Affect of symptoms on work, child-rearing, day-to-day activities?
Systems to examine:
Skin: Clubbing, mouth ulcers, erythema nodosum, pyoderma
gangrenosum, psoriasis, scars from previous tunnelled lines.
Eyes: Red, irritated, sore eyes, reduced visual acuity.
Abdominal: Surgical scars, stomas, masses, tenderness.
Musculoskeletal: Joint pain/swelling/deformities especially sponylitis or
oligoarthritis of joints like the knees and ankles.
Treatment related: Cushingoid (steroids), gym hypertrophy and
hypertrichosis (cyclosporin).
Crohns disease: Active flare of inflammation, stricture, adhesions,
fistulas, abscess, malignancy, infection related to immunsuppression
(e.g.: CMV colitis), extra-intestinal issues like primary sclerosing
cholangitis.
Other gastrointestinal: Ulcerative colitis, infection (bacterial,
mycobacterial, viral, protozoal, helminths; opportunistic related to
HIV/immunosuppression), vasculitis, Behcets, malignancy (solid organ
or haematological), irritable bowel syndrome, Coeliacs disease,
cholelithiasis, pancreatitis, gastritis.
Genitourinary tract: Urinary tract infection, renal tract stones, pelvic
inflammatory disease, endometriosis, pregnancy related.
Bedside tests: Urine dipstick (UTI, renal tract stones, pregnancy
test), temperature (infection), weight (weight loss), PR
examination (blood, mucous, masses, fistulae), stool MCS, culture, OCP,
toxin (infectious precipitants).
Blood tests: FBC (anaemia, raised platelets and WCC), CRP/ESR (raised),
U&Es (dehydration), LFTs (gallstones or PSC), haematinics (B12, folate
and iron deficiency), vitamin D (deficiency from malabsorption).
Imaging: Plain abdominal radiograph (Dilatation, mass, thumb printing,
perforation), CT abdomen and pelvis (to investigate cause of symptoms,
especially colonic, or prepare for surgery), small bowel enteroscopy or
MRI (assessing small bowel disease), MRI (perianal disease), plain films
of joints or MRI (spondylitis, arthritis), plain chest radiograph (to
consider differentials like tuberculosis).
Special tests: Faecal calprotectin (if raised suggests intestinal
inflammation), colonoscopy or sigmoidoscopy (macroscopically: rectal
sparing, cobblestone appearance, discontinuous inflammation and
ulceration; microscopically: granulomas, crypt abnormalities,
inflammation, ulceration), diagnostic laparotomy (if cause remains
unclear).
Management:
Non-pharmacological: Smoking cessation (referral to stop smoking
clinic, NRT, buproprion, varenicline; smoking cessation can reduce the
risk of relapse by 65%), dietary advice, advise to avoid NSAIDs
(increased flare risk), support groups and give them a contact detail for
the IBD specialist nurse.
Pharmacological: Induce remission with high dose aminosalicylic acids
(e.g.: pentasa) and steroids (9mg budesonide for small bowel disease,
40mg prednisolone for colonic disease; plus consideration of bone and
stomach protection), they may also need azathioprine or
mercaptopurine added in; if in hospital with a flare thromboprophylaxis
is vital. To maintain remission agents like azathioprine or
mercaptopurine are used (alternatives are methotrexate). Active or
fistulating Crohns may also meet criteria for the use of infliximab.
Other options include elemental diets and total parenteral nutrition, or
metronidazole for perianal disease.
Surgical: If medical treatments failing (anastamotic recurrence
common) or to manage long term complications (e.g.: stricturoplasty).
Questions:
What are the side-effects of ASA compounds? Like sulphasalazine they
can cause headache, nausea, and abdominal pain in a dose-related
manner; idiosyncratically they are rarely associated with
agranulocytosis, Stevens Johnson Syndrome and pancreatitis.
What are the side-effects of steroids? Early on there is weight gain,
acne, fluid retention, sleep disturbance, alteration of mood,
hyperglycaemia, and dyspepsia. Courses over 12 weeks have an
increasing risk of osteoporosis, avascular necrosis, myopathy,
infections, and posterior subcapsular cataracts. On weaning patients off
steroids they may experience iatrogenic Addisons or myalgia and
fatigue.
What test can be performed to asses the safety of thiopurines
(azathioprine and mercaptopurine)? A TPMT activity test or genotype to
identify those at risk of leukopaenia and then close monitoring of cell
counts. For example weekly FBCs for 2 months, then at least every 3
months; with advice for the patient to seek medical advice urgently if
they have a sore throat or other signs of infection.
What are considered poor prognostic factors in Crohns? Onset <40 and
female gender; perianal, fistulating, stricturing, perforating disease;
steroids required at first flare; upper GI lesions.
What investigations are required prior to starting
immunotherapy? Check hep B status (risk of hepatic failure), presence
of immunity to zoster, and screening for latent tuberculosis (risk of
reactivation); consider giving outstanding live vaccines as these cannot
be used once treatment has started.
What factors affect fertility in Crohns disease? Pelvic surgery and
disease, immunsuppressants (i.e.: methotrexate), malnutrition,
psychosocial factors.
What factors increase the risk of small bowel and colorectal malignancy
in Crohns? Disease duration >10 years, co-existing primary sclerosing
cholangitis. Those with PSC need annual surveillance colonoscopy.
Hepatitis B and C
Scenario: Fatigue, athralgia, right sided abdominal pain, jaundice,
weight loss, dark urine.
History:
If known diagnosis of hepatitis B or C When were you diagnosed? Do
you know how you caught the virus? What investigations did you
undergo at that time apart from blood tests for example scans or
biopsies, and did these show any other problems? Have you
ever received treatment? How long were you on treatment and did
you receive the full course? Did you develop any problems with that?
How have you felt since?
Have you noticed being more tired than normal? Jaundice? Tummy
pain? Dark urine? Joint pains? Rashes? Weight loss? Fevers?
What medications are you taking and what other medical problems do
you have? Have you ever received vaccinations against hepatitis?
Has anyone in your family, or anyone you know ever had hepatitis?
What job do you do have you ever worked in healthcare?
Do you smoke, drink, or take recreational drugs?
Examination:
Skin: Tattoos, track marks, vasculitic rashes, bullous rashes (porphyria
cutanea tarda), xerophthalmia.
Abdominal: Icterus, ascites, purpura, asterixis, spider naevi, palmar
erythema.
Investigations:
Bedside tests: Urine dipstick (pregnancy testing for purposes of
screening and treatment, risk of glomerulonephritis).
Bloods: LFTs/GGT (may be normal), FBC, clotting, full virological
screen (HIV antigen-antibody testing, anti-hepatitis A IgG, anti-HB sAg,
anti-HB cAb, anti-hepatitis C IgG)
Imaging: USS abdomen (cirrhosis, portal hypertension, splenomegaly,
focal lesions)
Special tests: Liver biopsy (to assess cirrhosis, to exclude co-existing
pathology).
General management issues: Vaccinate against hepatitis A and B (for
contacts too), advise alcohol cessation, give information leaflets and
support; discuss important lifestyle issues including clean needle
programmes, safe sex, and contraceptive advice; if cirrhotic should be
offered regular USS abdomen to screen for hepatocellular carcinoma.
Management of Hepatitis B:
Specific testing issues: HBeAg, anti-HBe, anti-HBc, anti-hepatitis D.
Specific treatments: Pegylated interferon alpha (subcutaneous) alone;
with other options including tenofovir or entecavir.
Problems you may need to enquire about: Interferon can cause major
depressive episodes and severe flu-like symptoms that can prevent
patient from being treated or completing treatment courses. Note than
HCC can even develop in non-cirrhotic individuals on occasion so
monitoring crucial.
Management of Hepatitis C:
Specific testing issues: Genotype testing (1 is commonest in UK and
least treatable, genotypes 2+3 most amenable to treatment; patients
may be infected by more than one genotype), HCV RNA viral load.
Specific treatments: Pegylated interferon alpha (subcutaneous) and
ribavirin (oral), adding in newer protease inhibitors (boceprevir,
telaprevir) to this regimen for genotype 1 patients. Treatment duration
depends on genotype and other factors.
Problems you may need to enquire about: Interferon can cause major
depressive episodes and severe flu-like symptoms that can prevent
patient from being treated or completing treatment courses.
Questions:
How long does it take for tests to become positive for hepatitis B and
C? Hep C incubation in 6-9 weeks with symptomatic episodes at
infection very rare, and serology can take 3-6 months to become
positive.
How are the hepatitis viruses transmitted? Hep B via mother to child,
sexual intercourse, IVDU and needle-stick injuries. Hep C is via IV drug
use, blood transfusions pre-1991, needlestick injuries, from mother to
child, and rarely, via sexual intercourse.
What extra-hepatic features of hepatitis C do you know? Sjogrens,
cryoglobulinaemia, ITP, autoimmune hepatitis and thyroiditis,
membranous glomerulonephritis.
Hereditary Colon Cancer Syndromes
Scenarios: Relative recently diagnosed, symptoms of a particular
malignancy, about to start a family.
Questions to ask:
Any weight loss, night sweats, fevers, lumps or bumps noticed?
Any nausea, vomiting, abdominal pain, change in bowel habit,
constipation, diarrhoea, black stools, bloody stools?
Any itching, dark urine, pale stool, episodes where youve looked
yellow?
Any pain passing urine or passing bloody urine?
If female any change in your periods, any post-coital, intermenstrual,
or post-menopausal bleeding, any new breast lumps, when did you start
your periods and then enter the menopause, do you have children, how
old were you with your first, how many kids, did you breast feed?
Any cough, shortness of breath, coughing up blood?
Any headaches in the morning or worse on straining, any associated
weakness, numbness or change in your hearing, taste or smell?
Any new or changing moles or other skin lesions?
Anything else you see the doctor for, any operations, are you any
tablets and do you gave any allergies?
Who else in your family has been affected are they on your mother or
fathers side, at what age were they diagnosed, what was their
diagnosis, were there any other unusual features (eg: bilateral breast
cancer, male breast cancer), what treatment did they receive?
What do you do for a living, any exposure to toxins like asbestos or
radiation?
Whos at home with you?
What is your main concern today, do you have any specific questions
today and is there anything specific you were hoping I could do for you
today?
Differentials to exclude and systems to examine:
Familial adenomatous polyposis: Conjunctival pallor, thyroid masses,
cervical lymphadenopathy, abdominal masses, irregular hepatomegaly,
offer to perform digital rectal examination for masses, melena and
blood.
Gardners syndrome: Same spectrum as FAP but with bony and soft
tissue abnormalities.
Lynch syndrome (HNPCC): Conjunctival pallor, cervical
lymphadenopathy, abdominal masses, irregular hepatomegaly, iliac
fossa masses, offer to perform digital rectal examination for masses,
melena and blood and consider the need for a bimanual examination
for uterine or adnexal masses.
Peutz Jeugers syndrome: Pigmented lesions on palms and soles,
conjunctival pallor, pigmented lesions on the lips and buccal mucosa,
cervical lymphadenopathy, abdominal masses, irregular hepatomegaly,
offer to perform a digital rectal examination for masses, melena and
blood.
Investigations:
Familial adenomatous polyposis: FBC, LFTs, TFTs, upper and lower GI
endoscopies with histology, CT CAP.
Lynch syndrome (HNPCC): FBC, LFTS, upper and lower GI endoscopies
with histology, hysteroscopy with histology.
Peutz Jeugers syndrome: FBC, LFTs, upper and lower GI endoscopies
with histology, CT CAP.
Management: General measures include referral to a clinical geneticist,
obtaining detailed information about the other relatives cancer
including the exact mutation or number of polyps identified, and
educating about the non-familial risk factors for cancer (smoking,
alcohol, diet, weight, asbestos exposure).
Familial adenomatous polyposis: Early prophylactic colectomy in late
teens to early twenties, followed by 3 yearly upper GI endoscopy every
3 years from the age of 30 years.
Lynch syndrome (HNPCC): Colonoscopy every 2 years from the age of 25
until polyp number suggests prophylactic cold tommy required, upper
GI endoscopy every 2 years from the age of 50.
Peutz Jeugers syndrome: Colonoscopy and upper GI endoscopy every 2
years from the age of 25.
Questions:
What mutations are involved in the above conditions? FAP (APC gene
chromosome 5, autosomal dominant), Peutz Jeugers syndrome (STK11
gene in chromosome 19, autosomal dominant),
What national screening programme exists for colon cancer? Faecal
occult blood testing between 60-70 years old.
Hereditary Haemochromatosis
Scenarios: Tanned skin, thirst, weight loss, joint pain, jaundice,
haematemesis, erectile dysfunction.
Questions to ask:
Is there any family history of diabetes or problems with the
liver? Autosomal recessive condition.
Where do your family originate from? Commoner in Northern
Europeans, especially those of Irish origin.
Do you experience joint pain? Psuedogout is a feature of the disease.
Have you noticed increasing thirst, going to the toilet more often,
or weight loss in recent months? Pancreatic iron deposition causes
diabetes.
Have you noticed any difficulty with having or maintaining
erections? Can occur due to testicular or pituitary deposition of iron.
Have you noticed that you become fatigued more easily, are breathless
lying flat, are awoken at night suddenly short of breath or have
problems with ankle swelling? Can develop a dilated cardiomyopathy.
Systems to examine:
Skin: Tanned skin.
Cardiovascular: Irregular pulse, raised JVP, displaced apex, 3rd heart
sound, bibasal crepitations, peripheral oedema.
Abdominal: Features of chronic liver disease (palmar erythema, spider
naevi, purpura, gynaecomastia, axillary hair loss), jaundice,
hepatomegaly, splenomegaly, hepatic masses suggestive of HCC.
Musculoskeletal: Swollen/red/tender joints, scars from joint
replacement.
Alcohol excess: Can also cause raised ferritin, predispose to diabetes
and joint disease (gout), and eventually result in chronic liver disease
and HCC.
Confirming the diagnosis:
Raised ferritin (can be in the thousands at diagnosis), raised transferrin
(>55% in men, >50% in women; if raised confirm on a fasting
sample), HFE genotyping (C282Y and H63D mutations), and liver
biopsy.
Bedside tests: Blood sugar (raised), urine
dipstick (glycosuria), ECG (atrial fibrillation and other arrythmias,
conduction abnormalities).
Blood tests: FBC (polycythaemia), LFTs (deranged depending on disease
stage), INR (marker of liver synthetic function), ferritin (for diagnosis
and monitoring response to treatment), transferrin saturation (for
diagnosis), fasting glucose (to screen for diabetes), AFP (if HCC
suspected or patient at risk).
Imaging: Abdominal USS (cirrhosis), ECHO (dilated cardiomyopathy),
plain films of joints (chrondrocalcinosis).
Special tests: Ferriscan (to estimate liver iron load), genetic testing (as
above, to asses if homozygous for the mutation), liver biopsy (degree of
fibrosis and cirrhosis).
Management:
Non-pharmacological: Counselling, regular venesection (aiming for a
ferritin <50 initially with venesections weekly-two weekly, followed by
3-4 times a year, the latter may be done via the National Blood Service).
Pharmacological: Treat co-morbidities (ie: diabetes, heart failure).
Surgical: Liver transplant.
Questions:
What is the mutation? Autosomal recessive
Hereditary Haemorrhagic Telangiectasia (HHT)
Also known as Osler Weber Rendu Disease.
Scenarios: Fatigue, breathlessness, recurrent epistaxis, haemoptysis,
haematemesis, melena, haematuria.
Questions to ask:
Do you have any abdominal pain, change in bowel habit, blood in your
stools, black stools, vomiting, blood in the vomit?
Any nosebleeds how often, how heavy, ever needed to go to hospital
with them?
Any cough, blood in sputum, shortness of breath?
Any breathlessness lying flat, waking up at night gasping for breath, or
swollen ankles?
Any headaches, numbness, pins and needles, weakness, fits, changes in
your vision, speech or hearing?
Ever experience tinnitus or hearing your own heart beat?
What are your periods like, do you find them heavy?
Have you had any problems with bleeding anywhere else for example
after being to the dentist for a tooth removal?
Do you experience any shortness of breath, fatigue, dizziness,
palpitations or chest pain?
Any recent weight loss?
Any other problems you see a doctor for?
Are you on any medications, have you ever taken iron tablets?
Is there anyone in the family with similar problems?
Whos at home with you and what do you do for a living?
Do you have any particular worries or any questions you would like me
to answer?
Systems to examine: For this routine, start at the hands, looking
particularly at the finger pulps and palmar creases, check for clubbing,
move up to the face checking the conjunctivae, then around the mouth,
lips, buccal mucosa and tongue; then lie flat and palpate for masses, a
liver and a spleen and listen for bruits; then sit forward and listen to the
back of the lungs for bruits.
Skin: Telangiectasia affecting the skin including the lips and oral
mucosa, clubbing, pale palmar creases and conjunctival pallor.
Respiratory: Cyanosis, bruits, crepitations.
Cardiovascular: High output state with tachycardia, raised JVP, 3rd
heart sound, bibasal crepitations and peripheral oedema.
Gastrointestinal: Hepatomegaly, splenomegaly, bruits, dilated
abdominal veins.
CNS: Focal neurology, paraplegia.
Systemic sclerosis: Telangiectasia, calcinosis, sclerodactyly, Raynauds,
microstomia, dysphagia.
Peutz Jeugers syndrome: Pigmented lesions on the lips, buccal mucosa
and fingertips (tongue is not affected and they do not blanche on
pressure); symptoms of anaemia, recurrent abdominal pain.
Von Willebrands disease: Mucosal bleeding like epistaxis and
menorrhagia but no particular physical signs.
Confirming the diagnosis:
Patient must meet 3 out of 4 of the Curaco Criteria recurrent
epistaxis, mucocutaneous telangiectasia, visceral AVMs, and/or family
history.
Bedside tests: Urine dip (haematuria), oxygen saturations (right to left
shunts).
Bloods: FBC (anaemia), iron studies (deficiency due to bleeding), LFTs
(hepatic vascular malformations).
Imaging: At baseline they should undergo MRI brain (to identify any
AVMs), transthoracic cardiac echocardiogram with agitated saline or if
not available a CT chest (for pulmonary AVMs); if anaemia is out of
proportion to epistaxis perform upper GI endoscopy; if there are
deranged LFTs or high output cardiac failure or specific symptoms of
liver failure they should undergo liver USS with dopplers.
Special tests: Genetic testing (multiple mutations so diagnosis is
primarily with the criteria above, but sometimes utilised in children or
those in whom the diagnosis is uncertain).
Management:
Non-pharmacological: Counselling, supplementary written information,
genetic counselling, avoid scuba diving.
Pharmacological: Iron supplementation (oral or intravenous), blood
transfusion, oestrogen (to induce squamous metaplasia), tranexamic
acid.
Surgical: Embolisation and ligation of AVMs, cauterisation of nasal
telangiectasiae, liver transplantation.
Questions:
What is the mutation? Commonest is a mutation in the TGF beta
receptor, endoglin, on chromosome 9.
What are the possible complications of HHT? Bleeding, anaemia, high
output cardiac failure; haemorrhage, paradoxical emboli, liver failure.
Marfans Syndrome
Scenarios: Chest pain, shortness of breath, joint pain, change in vision.
Questions to ask:
Do you have any chest pain sudden onset, spreading to back, worse on
inspiration, associated nausea, vomiting, palpitations, radiation
elsewhere?
Do you have any cough or shortness of breath?
Any fevers, night sweats, weight loss, blood in your urine, rashes?
Any changes to your vision?
Any dislocated joints in the past or are your joints very flexible?
Any episodes where you suddenly feel anxious, sweaty and have a
headache; any lumps in the neck; any problems with thirst, constipation
or abdominal pain?
How tall are you?
Any thing else youve seen a doctor for?
Are you on any medications, anything from the pharmacy, any
allergies?
Do you smoke, drink, or take recreational drugs?
Whos at home and are you working at the moment?
What is your main worry today and do you have any particular
questions for me?
Systems to examine:
Inspection: Height, and whilst standing up look the the back of the
thorax for kyphoscoliosis and at the front for pectus excavatum and
carinatum, spread your arms out wide (disproportionately long arm
span to height), arachnodactyly, put thumb in fist (will come out the
other side), place your thumb and little finger in a ring around your
wrist (they will overlap), ask them to look quickly back and forth from
side to side (iridodonesis due to upward lens dislocation) and blue
sclerae, look inside the mouth with a pen torch looking for a high
arched palate and any mucosal neuromas (especially on the tip of the
tongue).
Cardiovascular: Look for prominent neck pulsations, feel for a collapsing
pulse, ask for a blood pressure, feel for their apex, sit them forward
and ask them to take a deep breath in and out and hold it and listen for
an early diastolic murmur of aortic regurgitation, listen for ejection click
and late systolic murmur of mitral valve prolapse.
Respiratory: Feel the tracheal position, and if chest pain reported
percuss and auscultation for a pneumothorax, inspect in the axillae for
chest drain scars.
Abdominal: If time you could ask and inspect for herniae.
Physiologically tall.
Homocysteinuria: Differ in the absence of cardiac complications, the
presence of cognitive impairment, recurrent thromboembolic events
and downward and medial lens dislocations.
MEN 2b: Marfinoid body habitus, mucosal neuromas, medullary thyroid
cancer, phaeochromocytoma; it doesnt effect the eyes or the heart.
MASS phenotype: Mitral valve prolapse, mild non-progressive aortic
root dilatation, skin and skeletal manifestations.
Other connective tissue disorder: Ehlers Danlos (AD, fish mouth scars,
hypermobility, blue sclerae, listen for mitral valve prolapse, look for
evidence of previous GI complications), pseudo xanthoma elasticum
(AR, plucked chicken skin appearance, hypermobility, blue sclerae,
angioid streaks on fundoscopy, listen for mitral valve disease and
screen for hypertension and accelerated atherosclerosis).
Investigations:
Bedside tests: Electrocardiogram, blood pressure for wide pulse
pressure, temperature/fundoscopy/dipstick (for infective endocarditis).
Bloods: Depends on presentation.
Imaging: Chest radiograph (cardiomegaly, pulmonary oedema, widened
mediastinum due to aortic root dilatation or dissection), annual
echocardiogram (to assess aortic root diameter and for aortic
regurgitation amongst other abnormalities).
Special tests: Diagnosis based on the Ghent Criteria rather than genetic
testing in most cases.
Treatment:
Non-pharmacological: Counsel them on the diagnosis, particularly the
familial element and risk of pneumothoraces and heart disease,
supplement this with written information and sign post to appropriate
sources of support; need to managed within an MDT consisting of
doctors (genetic, counsellor, cardiologists, General Practitioner,
ophthalmologist, orthopaedics, rheumatology, respiratory,
cardiothroacics), physiotherapy, occupational therapy.
Medical: Manage co-morbidities including arrhythmias, beta blockers
and angiotensin receptor blockers to slow progression of aortic root
dilatation.
Surgical: Aortic valve replacement (tissue or mechanical), aortic root
repair (root >5cm).
Questions:
What are the causes of a high arched palate? Marfans syndrome,
homocysteinuria, Friedreichs ataxia, Tuners syndrome, Noonans
syndrome.
What is the genetic defect in Marfans Syndrome? Autosomal dominant
mutation in fibrillin-1 on chromosome 15 with complete penetrance
but a variable phenotype.
What conditions cause blue sclerae? Osteogenesis imperfecta, marfans,
pseudoxanthoma elasticum, Ehlers Danlos, alkaptonuria (due to
deposition rather than a thin sclera).
What is the cause if MEN 2b? Spontaneous or autosomal dominant
defect in RET proto-oncogene that causes a marfinoid body habitus,
mucosal neuromas, medullary thyroid cancer and
phaeochromocytomas. Genetic testing available. Treatment is
thyroidectomy and close monitoring for phaeochromocytoma.
Neurofibromatosis Type 1
Scenarios: Seizures, visual disturbance, headaches, rashes.
Questions to ask:
Have you noticed any skin rashes, skin discolouration or lumps or bumps
on the skin?
Have you had headaches, seizures, fits or funny turns; is there any
weakness, numbness or pins and needles anywhere?
Is there any change in your speech, hearing or balance; do you feel
clumsier than normal or have you noticed ringing in the ears?
Do you experience palpitations, headaches, anxiety, sweating, tremor?
Do you have any other medical conditions, especially high blood
pressure?
Are you on any medications?
Does anyone in the family have problems like these and are there any
other conditions that run in your family?
Whos at home with you, what do you do for a living?
At whats age did you leave school, did you go on to college or
university?
Systems to examine: For this routine start at the hands with the arms
outstretched, check for pronator drift and rebound phenomenon and
past pointing and intention tremor, then as you scan up to the face take
a closer look at one set of the neurofibromas somewhere on their body
in order to palpate and delineate, then look at the irises, check acuity,
fields, pupillary responses, eye movements, facial sensation and muscle
strength, hearing, and then ask them to raise their arms to look in their
armpits, listen for a renal bruit, sit them forward and show that you are
looking at the shape of their spine, finish by listening to the chest and
performing fundoscopy.
Cutaneous: Cafe-au-lait spots (>6, >15mm in diameter), neurofibromas
(>2; soft, subcutaneous, varying size, may be pedunculated), plexiform
neurofibroma (>1), axillary freckling.
Ophthalmological: Lisch nodules using a pen torch, then fundoscopy for
optic nerve glioma or atrophy from compression or swelling due to
raised intracranial pressure.
Skeletal: Kyphosis, scoliosis, bowing of the legs.
Neurological: Abnormal visual fields, reduced visual acuity,
papilloedema, sensorineural hearing loss, hearing aids, palpable
peripheral nerves focus on 2, 3, 4, 5, 6, 7, 8 and cerebellar signs.
Respiratory: Crepitations.
Cardiovascular: Murmur of co-arctation.
Abdominal: Bruit of renal artery stenosis.
Decrums disease: Multiple lipomas varying size, soft, mild fluctuance,
overlying skin can be mobilised separately from them.
Tuberous sclerosis: Adenoma sebacaeum, subungual fibroma, shagreen
patches, ash-leaf macules.
Investigations:
Bedside tests: Blood pressure (hypertension, and check for postural
hypotension which is a feature of phaeos).
Imaging: MRI (optic nerve glioma), chest radiograph or CT
chest (fibrosis, cysts), renal tract USS plus dopplers (renal artery
stenosis).
Special tests: Slit lamp examination (to confirm Lisch nodules if not
seen on routine examination), urinary metanephrines (to screen for
phaeochromocytoma if confirmed, the most likely location is
adrenals, in which case MRI is the best to localise, although a CT is
usually sufficient, and otherwise a MIBG scan be used to search for
extra-adrenal ones).
Management:
Non-pharmacological: Education and support, genetic counselling and
family screening.
Medical: Anti-epileptics, anti-hypertensives (alpha then beta for
phaeochromocytoma).
Surgical: Removal of lesions (e.g.: disfiguring, compressive, neoplastic).
Questions:
What is the mode of inheritance? Autosomal dominant with complete
penetrance type 1 chromosome 17 gene defect, type 2 chromosome
22 gene defect.
What criteria are used to diagnose type 1 neurofibromatosis? The
National Institute of Health criteria which enable diagnosis in the
presence of 2 or more of 1st degree relative with NF1, 6 or more cafe
au lait macules, 2 or more neurofibromas, 1 or more plexiform
neuroma, two or more lisch nodules, osseous abnormalities, axillary
freckling and optic nerve glioma.
What are the features of neurofibromatosis type 2? Bilateral acoustic
neuromas, accompanied by meningiomas and schwannomas, and some
have cafe au lait spots. Family members should have hearing tests.
What would you like to examine to ascertain if there is an acoustic
neuroma present? Cranial nerve 5 (reduced facial sensation and
masticatory muscle weakness), 6 (eye abduction), 7 (facial droop),
hearing loss, cerebellar signs including nystagmus.
What is a plexiform neurofibroma? Larger neurofibromas that can grow
to a considerable size and cause significant distortion of the involved
body part; there is also a risk of neoplastic transformation unlike the
other skin lesions of this condition.
What neurocutaneous syndromes do you know? Neurofibromatosis,
tuberous sclerosis, Von Hippel Lindau syndrome, Sturge Weber
Syndrome, ataxia telangiectasia.
What secondary causes of hypertension are seen in
Neurofibromatosis? Phaeochromocytoma, renal artery stenosis and co-
arctation.
What hereditary conditions are associated with phaeochromocytomas?
Neurofibromatosis, Von Hippel Lindau, and multiple endocrine
neoplasia type 2a and 2b (in addition to medullary cell thyroid cancers
and parathyroid hyperplasia).
Tuberous Sclerosis
Scenarios: Rash, headaches, fits, shortness of breath, difficult to treat
blood pressure, poor progress at school or college.
Questions to ask:
When did the rash start, how has it changed since then, where on your
body does it affect?
Any headaches, weakness, numbness, tingling, fits, funny turns,
changes in your vision, hearing, speech or swallowing?
Any shortness of breath or cough?
Any problems passing urine, any blood in the urine, and abdominal
swelling, has anyone told you that you have problems with high blood
pressure or your kidneys?
Any other medical problems that you see a doctor for, any operations in
the past?
Anyone else in the family with a rash or similar problems to these, any
other medical problems that run in the family?
Whos at home with you, what do you do for work?
How old were you when you left school, how did you do in exams, did
you go to college or university?
Do you smoke, ever smoked, drink alcohol, or take recreational drugs?
How is your mood?
Do you have any particular worries or questions for me?
Systems to examine: For this routine get the patient on the couch,
ideally with their top off, start with the hands out straight for tremor
and nail changes, then scan up the arms for a fistula and check the
blood pressure, examine the facial rash, look in the mouth at the palate
and gums, check the neck for scars, scan the thorax for ash leaf
macules, look for scars of peritoneal dialysis and transplant, ballot the
kidneys, sit them forward, check for nephrectomy scars, listen to the
lungs and finish at the heart and fundoscopy if you have time.
Cutaneous: Peri-ungual fibromas on the nails (look at nails and
toenails), adenoma sebaceum (facial angiofibromas) on the face, ash
leaf macule on the thorax (ask to inspect these under Woods lamp as
the depigmented macule will fluoresce), shagreen patches over the
lumbar region.
Fundoscopy: Retinal phakomas (grey/white/yellow patches).
Renal: Look for tremor, check for AV fistulas, check gums for
hypertrophy (could be cyclosporin for the transplant or phenytoin from
the epilepsy) and at the same time look at the hard palate as a high
arched palate is seen in tuberous sclerosis, neck scars (lines,
parathyroidectomy), nephrectomy scars, peritoneal dialysis scars, renal
transplant, ballotable kidneys due to renal angiomyolipomas or cysts.
Cardiac: Rhabdomyomas may cause audible murmurs due to turbulent
flow across them.
Neurological: Brief neurological examination to asses for focal
neurology if reported by the patient.
Neurofibromatosis type 1: Cafe au lait spots, neurofibromas, axillary
freckling, lisch nodules.
Von Hippel Lindau: Cysts in the kidneys, pancreas, liver and epididymis;
cerebellar haemangioblastomas, retinal angiomas, risk of
phaeochromocytoma and renal cell cancer.
Investigations:
Bedside tests: Woods lamp (to highlight the ash leaf macules), blood
pressure (hypertension), electrocardiogram (conduction blocks, Wolff
Parkinsons white, hypertrophy due to outflow tract obstruction), urine
dipstick (haematuria), oxygen saturations (cystic lung disease).
Bloods: FBC (anaemia due to haematuria), U&Es (due to renal cysts and
angiomyolipomas).
Imaging: Plain films of the skull (railroad track calcification), MRI brain
(tubers and subependymal nodules, lesions may calcify),
echocardiogram (rhabdomyomas), renal tract
USS/MRI (angiomyolipomas, renal cysts), CT chest
(lymphangioleiomyomatosis, pneumothorax, chylous pleural effusions).
Special tests: Spirometry (if lung involvement).
Management:
Non-pharmacological: Educate on the diagnosis and give
supplementary written information, focus on the familial element with
a 50% risk of transmission to children and the increased risk of epilepsy;
utilise all relevant members of the MDT including neurologist, epilepsy
specialist nurse, general practitioner, genetic counsellor and
nephrologists, if they have epilepsy give the relevant advice regarding
DVLA notification and safety tips for day to day life (showers not baths,
leave the door open, dont swim unaccompanied, avoid heights like
scaffolding).
Medical: Treat co-morbidities like epilepsy and renal disease.
Surgical: Renal transplant, excision of large lesions, arterial
embolisation of bleeding angiomyolipomata.
Questions:
What is the mode of inheritance of tuberous sclerosis? Autosomal
dominant but with variable penetrance, due to defects of chromosome
9 in TSC 1 (hamartin), and chromosome 16 in TSC 2 (tuberin).
Why do patients with tuberous sclerosis develop renal cystic disease?
The TSC 2 gene lies next to the ADPKD 1 gene on chromosome 16 and
as such they can develop manifestations of both conditions.
What renal complications can these individuals develop? Renal cysts
and angiomyolipomas, cyst infection, cyst bleed, cyst rupture, renal
failure, renal cell carcinoma (unlike in ADPCKD, both TS and especially
VHL carry a high risk of RCC).
Confusion
Scenarios: Worsening memory, getting lost, not coping at home,
incontinence, personality change, depression.
Questions to ask:
When did you first notice problems with your memory, what did you
notice first, how has it changed since that time, what do you find
particularly difficult?
How is your memory of things from a long time ago, such as from your
childhood; do you find yourself forgetting names, getting lost, losing
track of the days, having problems with cooking like leaving the stove
on?
Any change in your writing, speech or swallowing?
Any problems with your mobility, do you find your walking is slower or
that you have trouble with stairs or with falling?
If there have been falls any injuries to the head or anywhere else on
your body, have you had to go to hospital?
Any problems with the bowels or waterworks going more often than
normal, having difficulty going, having accidents?
How has your mood been during this, do you feel low, or find that
youve been more emotional than normal; have you had less of an
appetite or been sleeping badly?
Have you been having more vivid dreams than normal or seeing or
hearing things that you think might not really be there?
Any headaches, numbness, pins and needles, weakness, changes in your
hearing or vision, shaking, or unusual movements?
Any weight loss, fevers, lumps, bumps, or pains that are bothering you?
Any other problems that you see a doctor for, any previous operations?
Are you on any medications, any allergies, do you have a blister pack or
dosette box, ever taken penicillin?
Any medical problems that run in the family?
Do you smoke, ever smoked, drink alcohol, taken recreational drugs?
Whos at home with you and how do you feel youre coping?
Any carers or family nearby to help?
Do you have any particular worries, concerns or questions for me?
Systems to examine:
Cognitive: AMTS or ideally a Montreal Cognitive Assessment (MOCA)
tool, Geriatric Depression Scale (GDS).
Neurological: Gait (slow, shuffling, loss of arm swing, poor turn of
Parkinsons, Lewy body, Parkinsons plus syndromes or vascular
Parkinsonism; broad based and ataxic of normal pressure
hydrocephalus), check for tremor, vertical gaze palsy, cerebellar
features.
Dementia: Alzheimers, Parkisons and Lewy body dementia, vascular,
frontotemporal, rarities like prion disease should also be borne in mind;
potentially reversible elements such as B12 and folate deficiency,
hypothyroidism, liver/renal/cardiac failure, hypercalcaemia,
neurosyphilis, intracranial pathology such as normal pressure
hydrocephalus, chronic subdural or mass lesion.
Delerium: May co-exist with the above or be solitary screen for
infection and electrolyte abnormalities, medications and drugs
including alcohol in terms of effect/toxicity/withdrawal.
Mimics: Depression, anxiety, neglect.
Investigations:
Bedside tests: Temperature (infection), urine dipstick and MSU
(infection).
Bloods: FBC (anaemia, elevated WCC), CRP/ESR (raised), U&Es
(hyponatremia, renal failure), TFTs (hypothyroidism), bone profile
(hypercalcaemia), LFTs (liver failure), B12/folate (deficiency),
VDRL/TPHA (neurosyphilis VDRL usually negative as late stage in
disease but TPHA would be positive).
Imaging: CT head (hydrocephalus, subdural, intracranial lesion, multi-
infarct), radiograph of the chest (infection, cardiac failure, mass lesion).
Special tests: Lumbar puncture (encephalitis, neurosyphilis).
Treatment:
Non-pharmacological: Counsel on the diagnosis, supplementary written
information and signpost to sources of support; rule out reversible or
contributing factors, review the drug cardex; consider the need for
input from social care, physiotherapy, occupational therapy, speech
and language therapy, or referral to a dedicated memory clinic or day
care centres; consider safety aspects like DVLA; introduce the idea of
advanced care planning.
Medical: Treat any identifiable underlying cause, optimise
cardiovascular risk profile; if Alzheimers then consider the use of
cholinesterase inhibitors (eg: donepizil, rivastigmine) in mild cognitive
impairment or NMDA antagonists (eg: memantine) in more severe
impairment or if the above is contraindicated or not tolerated; advise
caution with antipsychotics.
Myasthenia Gravis
Scenarios: Double vision, weakness, quiet voice, difficulty breathing.
Questions to ask:
When did the weakness start, what muscles are affected, how has it
progressed, are symptoms worse late in the day?
Have you had double vision or drooping of the eyes?
Any difficulty speaking or swallowing?
Any shortness of breath?
Any recent signs of infection?
Any other medical problems in particular any autoimmune diseases?
Are you on any medications or do you have any allergies?
Does anyone in the family suffer from muscle problems, or autoimmune
conditions?
Do you smoke (ever smoked), drink alcohol, or take recreational drugs?
What are your concerns?
Systems to examine:
Inspect: Around the bed for a spirometer, and at the patient more
closely for a sternotomy scar indicating thymectomy.
Eyes: Look for ptosis and a complex ophthalmoplegia (where multiple
different cranial nerves appear to be affected through the eyes such
as double vision looking up to the left caused by the left eye, and
double vision looking to the right caused by the right eye), and then ask
them to look up for a period of 20 seconds to show fatiguability with
the development of worsening ptosis.
Face: Check if you can overcome their eye scrunch, and asses for a
myasthenic snarl.
Speech: Ask them to count to 50 listening for the voice getting
gradually quieter and more slurred.
Neck muscles: Asses for weakness of the neck muscles for example by
asking them to flex their neck whilst pushing up against their forehead.
Arms: Test strength with shoulder abduction, then get the patient to
bat one arm up and down 10-20 times, and then repeat strength testing
again you should find that the exercised arm is now weak, whereas
the other has normal strength. There is no wasting or fasciculation,
there is a normal sensory examination, and reflexes and tone are
normal.
Complex ophthalmoplegia can also be caused by:
Inherited disorders: Chronic progressive external ophthalmoplegia (part
of Kearns Sayre syndrome), congenital myasthenia and mitochondrial
myopathies.
Trauma and local infection, including within the cavernous sinus.
Inflammatory disorders: Miller fisher syndrome, mononeuritis
multiplex.
Graves ophthalmoplegia.
As a whole, a similar picture can be caused by botulism, variants of
Gullain Barre syndrome, congenital myasthenias and mitochrondrial
myopathies.
Investigations:
Bedside: Vital capacity (respiratory involvement possible and this is the
most sensitive way to detect deterioration at the bedside), oxygen
saturations (monitor for hypoxia), arterial blood gas (hypoxia,
hypercapnia), ice test (place crushed ice in a glass and apply to the
patients eye for 3 minutes this will causes ptosis to improve in MG).
Bloods: Anti-acetylcholine receptor antibodies and Muscle-specific
Tyrosine Kinase antibodies (sensitive for MG), TFTs (not uncommon to
have concurrent Graves disease), U&Es (hypokalemia a recognised
precipitant of worsening symptoms), FBC/CRP (to rule out intercurrent
infection that may cause symptoms to deteriorate).
Imaging: CT or MRI thorax (at diagnosis, to rule out thymoma).
Special tests: Tensilon test (edrophonium test give IV
acetylcholinesterase inhibitor to increase the amount of ACh available
in the NMJ and thereby temporarily improve weakness monitor
closely for bradycardia, conduction block and asystole with a resus
trolley to hand it is because of these dangerous complications that it
has fallen out of favour), single fibre electromyography (decremental
response to repeated stimulation).
Treatment:
Non-pharmacological: Review drug cardex for causative medications
which can be stopped (e.g.: penicillamine, gentamicin), speech and
language review, ITU review, NG feeding, CPAP.
Medical: Acetylcholinesterase inhibitors (pyridostigmine), steroids,
steroid sparing agents (azathioprine), IVIg, plasma exchange, rituximab.
Surgical: Thymectomy.
Questions:
What is chronic progressive external ophthalmoplegia? Mitochondrial
myopathy disorder there is slow but progressive development of
ptosis accompanied by ophthalmoplegia. There may be systemic
features such as retinitis pigmentosa, muscle weakness elsewhere,
cataracts, hearing loss, and sensory neuropathy. Systemic features lead
to it being called Kearns Sayre Syndrome.
How does Lambert Eaton Syndrome differ from myasthenia
gravis? Antibodies against presynaptic calcium channels, associated
with small cell lung cancer, weakness may improve with exercise, no
ocular symptoms but there is autonomic involvement and hyporeflexia,
poor response to tensilon test, treat with 3,4-diaminopyridine.
What are the complications of myasthenia gravis? Acutely type 2
respiratory failure, aspiration pneumonia, atelectasis, pulmonary
embolism. Chronically weakness, side effects of steroids and steroid
sparing immunosuppression.
Pituitary Failure
Scenarios: Headache, bumping into things.
Questions to ask:
Have you noticed any changes in your vision for example that you are
missing things at the side of your vision or bumping into things, or that
youve been having double vision or seeing colours like red less vividly
than normal?
Have you had any headaches where do you feel the pain, are they
worse in the mornings?
Have you been more tired than usual?
Adrenal insufficiency Have you lost your appetite? Do you experience
nausea, vomiting, abdominal pain or weakness?
GH deficiency Do you have less energy than you used to have? Have
you gained weight?
TSH deficiency Do you feel the cold more than you used to? Have you
been constipated? Have you had dry skin or had hair loss?
For males Have you noticed changes in your libido? Have you had any
problems having or maintaining erections? Have you noticed any breast
growth or difficulty growing facial hair? Have you had any hot flushes?
Are you currently trying to conceive and if so have you been successful?
Have you put on weight?
For females Have you noticed any changes in your periods? Have you
noticed changes in your libido? Have you had any hot flushes? Have you
noticed that you breasts have changed in size? Are you currently trying
to conceive and if so have you been successful? Have you put on
weight?
Compression of pituitary stalk Are you drinking more and passing
water more often?
If the diagnosis is already known How big was your tumour, what
symptoms did you have initially, what treatments have you received,
are you now on hormone replacement and if so do you have a steroid
alert card and understand the sick day rules?
Systems to examine:
General inspection: BMI, dry skin, hair loss, prominent supra-orbital
ridges, conjunctival pallor, prognathism, increased space between
teeth, macroglossia, large hands, loss of facial/axillary hair,
gynaecomastia.
Visual: Visual fields for bitemporal hemianopia, eye movements for
ophthalmoplegia suggesting local invasion, fundoscopy for optic nerve
swelling.
Neurological: Difficult rising from a chair without using arms.
Pituitary: Non-functioning adenoma, adenoma producing
prolactin/GH/ACTH/TSH with compression of remaining tissues,
pituitary apoplexy.
Other mass lesions: Meningioma, craniopharyngioma, Rathkes pouch
cyst, metastases (breast, lung, kidney), internal carotid artery
aneurysm.
Granulomatous: Neurosarcoidosis, mycobacterial infection.
Investigations:
Bedside tests: Finger prick glucose (low).
Bloods: Prolactin (low or high), growth hormone stimulation
test (OGTT), IGF-1 level (low or
high), LH/FSH (low), testosterone (low), oestradiol (low), TSH/thyroxine
(low or high), morning cortisol (low or high), short synacthen
test (produces a response), FBC (anaemia), U&Es (hyperkalemia,
hyponatremia).
Imaging: CT head with contrast (meningiomas and craniopharyngiomas
typically calcify), MRI with gadolinium (pituitary mass with compression
of surrounding structures, or stalk and leptomeningeal enhancement of
sarcoid).
Special tests: Goldmann perimetry tests (formal visual field
assessment).
Management:
Non-pharmacological: Education and advice, steroid bracelets.
Medical: Hormone replacement (glucocorticoids, thyroid hormones, sex
hormones, growth hormone).
Surgical: Trans-phenoidal surgery (first line if having mass effect).
Questions:
How would you manage an adrenal crisis? Intravenous fluids and 4
hourly IV hydrocortisone 100mg (or 6 hourly IM hydrocortisone if
access difficult to obtain) until eating and drinking normally and not
vomiting. They can then revert to normal oral hydrocortisone dose,
unless there is an underlying illness that warrants keeping the steroid
dose a bit higher for a few days.
Proximal Weakness
Scenarios: Weakness of arms and legs, difficulty climbing stairs or
brushing hair, painful muscles.
Questions to ask:
When did the symptoms start, how have they progressed, how is it
affecting your life now?
Are the muscles painful or stiff?
Is the weakness worse at particular times?
Have you noticed problems with your speech or swallowing?
Any drooping of the eyelids?
Have you had any headaches, pain on chewing food, or visual loss?
Have you suffered weight loss, fevers or night sweats?
Have you had any rashes or noticed that you are more sensitive to the
sun at the moment?
Any cough or breathlessness?
Any change in bowel habit, nausea or vomiting?
Any other problems that you see a doctor for?
Are you on any medications particularly statins or steroids, and have
you got any allergies?
Any family members with muscle problems?
Do you drink alcohol, smoke (ever smoked), or take recreational drugs?
Whos at home with you?
Are you working currently?
Any particular questions or concerns for me?
Muscular:
Acquired: Iatrogenic (steroids, statins), immune (polymyalgia
rheumatica, polymyositis, dermatomyositis), endocrine
(hypothyroidism, Cushings, vitamin D deficiency).
Congenital: Muscular dystrophies and mitochondrial cytopathies.
Neuromuscular junction: Myasthenia gravis, botulism.
Motor nerves: Diabetic amyoptrophy, alcohol, CIDP, GBS.
Anterior horn cell: Motor neurone disease.
Systems to examine:
Inspect for fasiculations and wasting, and for dermatological
manifestations of dermatomyositis (shawl rash, gottrons papules,
photosensitivity, peri-ungual erythema, heliotrope rash, peri-orbital
oedema).
Feel for temporal artery tenderness.
Arm strength.
Ask patient to rise from sitting.
Assess strength of forced neck flexion.
Check reflexes.
If time: Perform a full neurological examination of the cranial nerves,
upper limbs, lower limbs for the weakness, and respiratory and
abdominal examinations for any possible underlying malignancy and
interstitial lung disease. In a woman, offer to perform a breast
examination.
Investigations:
Bedside tests: Vital capacity (if respiratory muscle involvement
suspected).
Bloods: Creatinine kinase (raised), ESR/CRP (raised), anti-nuclear
antibody and anti-Jo1 and anti-Mi2 (positive), TFTs (low or
high), morning cortisol (high), vitamin D level (low), fasting
glucose (high), FBC (anaemia), bone
profile (hypercalcaemia), LFTs (deranged).
Imaging: Chest radiograph (lung mass), CT CAP (underlying malignancy).
Special tests: Electrophysiology including nerve conduction studies and
electromyography (), muscle biopsy (to diagnose conditions like
polymyositis, dermatomyositis and inclusion body myositis).
Treatment:
Non-pharmacological: Education, support, physiotherapy, occupational
therapy, speech and language therapist, social services assessment,
avoid precipitants.
Medical: Correct endocrine abnormalities, consider steroids and steroid
sparing agents for immune causes.
Surgical: Resection of underlying malignancy.
Primary pulmonary hypertension
Scenarios: Breathlessness, reduced exercise tolerance, cough including
haemoptysis, ankle swelling, chest pain.
Questions to ask:
Do you find you get breathless when, for how long, any wheeze,
cough, sputum, blood, worse on lying down, how does this affect day to
day activities?
Any chest pain where, quality, severity, spread, associated symptoms,
duration, what brings it on, what seems to help when having the pain?
Any ankle swelling or waking up at night with breathlessness or chest
pain?
Any calf pain?
Any joint pains, rashes, or red eyes?
Do you have any other medical problems specifically, any childhood
infections, rheumatic fever, blood clots in the legs or lungs, joint
problems, longstanding lung problems?
Are you taking any medications specifically, oral contraceptives or diet
medications?
Is there any health problems that run in the family?
Whos at home with you if a partner is present do they ever say that
you snore at night or stop breathing?
Any chance you could be pregnant right now or are you planning to get
pregnant any time soon?
Do you smoke, ever smoked, drink alcohol or take recreational drugs or
alternative therapies?
Have you ever been in contact with TB?
Any thoughts about what this could be, or any particular concerns you
would like me to address?
Parenchymal lung disease: COPD (including alpha-1-antitrypsin
disease), pulmonary fibrosis, bronchiectasis.
Pulmonary vascular disease: Primary pulmonary hypertension,
secondary pulmonary hypertension (thromboembolic, parenchymal
lung disease, autoimmunity, left sided cardiac disease, thoracic cage
abnormalities, obstructive sleep apnoea, sickle cell disease).
Cardiac disease: Congenital heart disease, constrictive pericarditis.
Systems to examine:
Cardiac: Features of cor pulmonale with raised jugular venous pressure,
right ventricular heave, loud P2, PSM of TR, EDM of PR, peripheral
oedema; features of other cardiac pathology (murmurs, added sounds,
displaced apex).
Respiratory: Wheezes and crepitations suggesting underlying lung
disease.
Cutaneous and musculoskeletal: Rashes, tender and swollen joints.
Investigations:
Bedside tests: Oxygen saturations (hypoxia), arterial blood
gas (hypoxia, hypercapnia), electrocardiogram (right heart strain, atrial
fibrillation), if they are a young female also request a pregnancy
test (high morbidity and mortality associated with pregnancy those
with pulmonary hypertension).
Bloods: FBC (polycythaemia), U&Es (prior to treatment), LFTs (prior to
anti-coagulation), clotting (prior to anticoagulation, identify pro-
thrombotic tendencies), CRP/ESR (infection or
inflammation), autoimmune screen (underlying cause), thrombophilia
screen (if recurrent thrombi-emboli are the cause), haemoglobinopathy
screen (sickle cell disease).
Imaging: Chest radiograph (prominent pulmonary vasculature at the
hila with peripheral pruning), echocardiogram (pulmonary artery
systolic pressure, right ventricular hypertrophy, right sided regurgitant
valves, secondary causes of pulmonary hypertension such as mitral
stenosis), high resolution computed tomography of the chest or
pulmonary angiogram (parenchymal lung disease, recurrent
thromboemboli).
Special tests: Spriometry (reduced lung transfer), cardiac
catheterisation with vasodilator testing (to confirm diagnosis, exclude
other causes including left-right shunts, determine further
management).
Treatment:
Non-pharmacological: Education and signpost to support groups and
further information, avoid exacerbating factors (e.g.: pregnancy, oral
contraceptive pill, hormone replacement therapy, smoking),
pneumococcal and annual influenza vaccine.
Medical: Anti-coagulate with warfarin and consider diuretics if
peripheral oedema; if beneficial response to vasodilator testing on
cardiac catheterisation offer long acting calcium channel blockers;
additional treatment measures include prostacyclin infusions,
endothelin receptor antagonists, and sildenafil; long term oxygen
therapy.
Surgical: Combined heart-lung transplant.
Ankylosing Spondylitis
Scenarios: Back pain, back stiffness.
Questions to ask:
When is the pain and stiffness worst, does this stiffness last longer than
30 minutes in the morning?
Which part of the back is affected and are there any other joints
affected?
How long ago did you first notice symptoms?
Any inflammation or redness in the eyes?
Any skin rashes?
Any shortness of breath or dry cough?
Any chest pain, palpitations, ankle swelling or shortness of breath lying
flat at night?
Any problems with tendonitis for example, pain or swelling at the back
of the ankle?
Were there any infections prior to the pain starting for example a
diarrhoeal illness or discharge and pain from the penis/vagina?
Do you have psoriasis or inflammatory bowel disease? Does anyone in
the family suffer from these or other joint problems?
Has anyone mentioned a heart mumur, lung fibrosis or kidney
problems?
Are you on any medications? What painkillers have you used? Have you
ever tried tablets like ibuprofen or diclofenac and if so do they cause
you any problems like heartburn? Any allergies?
Do you smoke or drink or take recreational drugs?
What do you do for work?
How is this problem affecting your day to day life?
Any particular concerns or questions?
Systems to examine:
Inspection: Question mark posture, walking aids, protuberant
abdomen.
Back: Cervical (lordosis), thoracic (kyphosis), lumbar spine movements
(loss of normal lumbar lordosis), sacroiliac joint tenderness; wall-to-
occiput distance, Schrobers test (dimples of venus, 5cm below, 10cm
above, bend forward, positive if <5cm expansion), chest expansion.
Respiratory: Lung apices for fine end-inspiratory crepitations.
Cardiovascular: Early diastolic murmur and displaced apex due to aortic
root dilatation.
Skin: Extensor aspects and nails for features of psoriasis.
Tendons: Achilles tendonitis.
HLA B27 associated arthropathies: Psoriatic arthropathy, reactive
arthritis, inflammatory bowel disease associated arthopathy.
Osteoarthritis, mechanical back pain.
Malignancy.
Diffuse Idiopathic Skeletal Hyperostosis (DISH).
(Alkaptonuria if dark urine on standing, pigmentation of pinna etc)
Investigations:
Bedside tests: Blood pressure (widened pulse pressure),
electrocardiogram (AV conduction blocks), urine dipstick (proteinuria),
oxygen saturations (hypoxia).
Bloods: FBC (anaemia), ESR/CRP (raised), U&Es (reduced secondary to
amyloidosis or NSAID use), HLA B27 (positive).
Imaging: Plain films (syndesmophytes, bamboo spine, SI joint
sclerosis), MRI spine (early evidence of inflammation), chest
radiograph (apical shadowing), high resolution CT chest (apical
pulmonary fibrosis), echocardiogram (aortic root dilatation, aortic
regurgitation).
Special tests: Spirometry (restrictive lung defect).
Treatment:
Non-pharmacological: Education, advice, signpost to AS society, refer to
rheumatology and rheumatologist specialist nurse, physiotherapy and
encourage exercise (e.g.: swimming, hydrotherapy), monitor for
associated conditions like cardiovascular disease and osteoporosis and
fracture.
Medical: Analgesia (NSAIDs if tolerated, paracetamol, amitryptilline),
steroids (oral, IM, IA), DMARDs not typically used as not effective as
they are in RA etc, biologics (adalimumab, etanercept, golimumab; NICE
states patient should have used at least 2 NSAIDs at maximal tolerated
dose, have BASDAI and VAS scores >4 on two separate occasions at
least 3 months apart etc to meet criteria).
Surgical: Joint replacement, osteotomy.
Questions:
What are the causes of shortness of breath related to the patients
underlying ankylosing spondylitis? Apical pulmonary fibrosis, restriction
of chest expansion, tuberculosis or other infections secondary to
immunsuppressants like anti-TNF agents.
What are the renal complications? NSAID use, amyloidosis, IgA
nephropathy.
What are the diagnostic criteria? The modified New York criteria.
Chronic Tophaceous Gout
Scenarios: Joint pain, joint swelling, joint disfigurement, painful lumps
in skin.
Questions to ask:
Do you suffer from joint pain, swelling, and redness which joints,
speed of onset (very quick over a few hours), severity of pain (worst
pain ever), duration of pain (1-2 weeks), precipitating factors?
How old were you when these episodes started, how many a year?
Any fevers, night sweats, weight loss, or have you felt any lumps or
bumps?
Do you have any other medical problems specifically high blood
pressure, high cholesterol, kidney disease (dialysis?)?
What medications do you take specifically do you take any water
tablets or aspirin?
Are there any medical conditions that run in your family?
Do you drink alcohol (beer?) or smoke?
Do you drink fizzy drinks? Do you eat red meat and seafood?
Any recent travel?
Any particular worries or questions for me?
Systems to examine:
Cutaneous: Tophi look at the hands, elbows, helix of the ears, achilles
tendons and toes; xanthelasma (hypercholesterolaemia in keeping with
metabolic syndrome); finger prick glucose testing marks.
Musculoskeletal: Look in particular at the commonly affected joints
1st metatarsophalangeal joint, mid-foot, ankle, knee, fingers, wrists,
and elbows; asymmetrical pattern; additionally wasting of dorsal
interossei if severe suggestive of disuse atrophy.
Septic arthritis.
Psuedogout.
Psoriatic arthritis.
Calcinosis.
Gout:
Purine overproduction: myeloproliferative and lymphoproliferative
disorders, psoriasis, chemotherapy.
High purine diet: red meat, seafood.
Reduced urate excretion: Renal failure, diuretics, ACE inhibitors.
Investigations:
Bedside tests: Joint aspiration (monosodium urate crystals, negatively
birefringent needles), urine dipstick (calculi), blood pressure (CVD risk
assessment), finger prick glucose (CVD risk assessment), BMI (CVD risk
assessment), electrocardiogram (CVD risk assessment).
Bloods: FBC (raised inflammatory markers), CRP/ESR (raised
acutely), serum urate (dont test acutely, its use is in long term
management, aiming for a urate of less <300 to reduce flares and
dissolve tophi), U&Es (renal impairment a common risk factor),
lipids (CVD risk assessment), LFTs (baseline pre-allopurinol and
detection of NAFLD as part of CVD risk assesment).
Imaging: Plain radiographs of the joints (punched out erosions and
tophi, relative absence of periarticular osteopaenia and joint space
narrowing).
Special tests: HPRT level (Lesch Nyhan and Kelley Seegmiller).
Management:
Non-pharamcological: Education, support, rest and ice during acute
phase, physiotherapy, occupational therapy, dietician advice regarding
diet and importance of hydration, avoid crash diets, limit alcohol intake,
consider amending other mediciations (eg. Low dose aspirin ok, if on
diuretics for hypertension switch to alternative agents, but may need
continuing in CCF).
Medical: Acute attack NSAIDs (indomethacin, naproxen), colchicene
(often limited by D&V; check drug interactions first), intra-articular
steroids (kenalog), oral steroids (30mg prednisolone for 5/7); long term
management should start 2-4 weeks after acute attack and aim to get
serum urate <300micromol/L (as low as possible initially to facilitate the
quickest resolution of tophi) with agents that reduce urate production
(allopurinol, febuxostat) or those that increase urate clearance
(sulphinpyrazone if normal kidneys or benzbromarone if impaired renal
function) ideally with NSAID or steroid cover. Typically people start with
allopurinol 100mg PO OD and titrate up according to urate levels
monthly.
Surgical: Joint replacement.
Questions:
What congenital forms of hyperuricaemia and gout are there? Lesch
Nyhan Syndrome (intellectual impairment, lip and finger biting) and
Kelley Seegmiller Syndrome.
Why do we have a target for urate levels below 300? This takes you
below the saturation threshold for urate and thus reduces the chance
of crystallisation in joints and soft tissues.
When would you advocate starting a medication like
allopurinol? Patients in whom it should definitely be considered are
those with erosions on radiography, tophi, nephropathy, recurrent
attacks or with HGPRT deficiency diseases. In others, there should be a
discussion with the patient if they have an attack as there is some
evidence to support starting therapy early whilst total urate load low
and no long term damage to joints.
Dermatomyositis and Polymyositis
Scenarios: Muscle weakness, muscle pain, rashes, sunburn, weight loss.
Questions to ask:
Do you have muscle weakness or muscle pain when did it start, how
has it progressed, which muscles are affected?
Any difficulty swallowing?
Any colour change in the fingers when you go into the cold?
Have you had any rashes where, affected by sunlight?
Have you had any problems with your vision, pain when chewing food,
or pain in the scalp or headache?
Have you had any weight loss, night sweats, or noticed any unusual
lumps or bumps?
Have you had a cough, chest pain or shortness of breath and
palpitations?
Have you had problems swallowing, abdominal pain, change in your
bowel habit or blood in your stool?
Have you noticed twitching of the muscles, numbness, or any pins and
needles sensations?
Are you on any medications or have any allergies?
Is there a family history of any problems?
Do you smoke, drink alcohol, or take recreational drugs?
How are the symptoms affecting your day-to-day life?
Systems to examine:
Cutaneous: Nail fold telangiectasia, gottrons papules, mechanics hands
(hyperkeratosis), calcinosis, photosensitive rashes, telangiectasia,
heliotrope rash, peri-orbital oedema, non-scarring alopecia; also look
for muscle biopsy sites and Cushingoid features such as a rounded face,
acne, hirsuitism, intrascapular fat pad, purpura, thin skin, finger prick
glucose testing marks.
Musculoskeletal: Proximal myopathy and muscle tenderness, athralgia.
Respiratory: Bi-basal inspiratory creptiations.
Muscle:
Inflammatory: Giant cell arteritis or other connective tissue disease.
Endocrine: Thyroid dysfunction, cortisol dysfunction.
Metabolic: Vitamin D deficiency, hypokalemia, diabetic amyotrophy.
Iatrogenic: Statins, steroids.
Degenerative: Motor neurone disease, inclusion body myositis.
Cutaneous:
Inflammatory: Systemic lupus erythematosus, mixed connective tissue
disease, scleroderma.
Lichen planus, psoriasis, peri-orbital dermatitis.
Investigations:
Bedside tests: Finger prick glucose (steroids causing
hyperglycaemia), ECG (myocardial involvement), bedside vital
capacity (if dyspnoeic to rule out respiratory muscle weakness).
Bloods: FBC (anaemia), CK/ALT/AST/LDH (myositis), CRP/ESR (raised), A
NA and anti-Jo1 antibodies (positive in some
patients), LFTs (malignancy screen), bone profile (malignancy screen).
Imaging: CXR (fibrotic changes or primary lung lesion), if over 40 I would
consider malignancy screen such as CT chest, abdomen and
pelvis (masses, lymph nodes).
Special tests: Electromyography (spontaneous fibrillation, short
duration polyphasic potentials of low amplitude, bursts of repetitive
potentials), muscle biopsy (interstitial and perivascular infiltration, with
muscle phagocytosis and necrosis), spirometry (restrictive lung defect).
Management:
Non-pharmacological: Education, support groups, physiotherapy,
occupational therapy, speech and language therapy, sun creams and
avoidance of sunshine.
Medical: Steroids (eg: prednisolone 1mg/kg PO OD), steroid sparing
agents (methotrexate), IV immunoglobulin.
Surgical: Resection of underlying malignancy.
Questions:
What malignancies are associated with dermatomyositis? Breast,
ovaries, lungs and GI tract.
What is the anti-synthetase syndrome? The presence of anti-Jo or anti-
SRP (to name two of many anti-synthetase antibodies) with interstitial
lung disease and dermato- or polymyositis.
Pagets Disease
Scenarios: Abnormal blood test, pain, warmth, fracture.
Questions to ask:
When did your symptoms start, how have they changed since then?
Do you have any pains in the bones or joints?
Do you have any tingling, numbness, weakness or changes in your
vision, hearing, speech or swallowing?
Any headaches?
Any ankle swelling, shortness of breath, breathlessness lying flat,
waking up at night gasping for air, palpitations or chest pain?
Any other problems you see a doctor for, any previous operations, any
broken bones?
What medications are you taking at the moment, ever taken vitamin D
supplements, any allergies?
Any medical problems run in the family?
Whos at home with you, how are you managing, any carers or help
around the house?
Do you smoke, ever smoked, drink alcohol, or take recreational drugs?
Do you have any particular worries or questions you would like to ask
me?
Systems to examine:
Musculoskeletal: Look for classic sites of abnormality such as tibia
(sabre tibiae, ie: bowing of the tibia), frontal bossing, kyphosis; feel for
any warmth or tenderness (only present very occasionally).
Neurological: Deafness (secondary to cranial nerve VIII compression or
fixation of the ossicles).
Skeletal metastasis: Cachexia, hepatomegaly, evidence of a primary,
significant pain.
Osteoarthritis: More definite localisation to a particular joint, slow
onset, pain.
Osteoporoisis and osteomalacia.
Investigations:
Bloods: Bone profile (normal unless recent history of immobilisation
when hypercalcaemia can develop, also important to rule out low
calcium before starting a bisphosphonate), LFTs including GGT (isolated,
marked elevation in ALP), vitamin D (osteomalacia as a differential and
to ensure levels normal pre-bisphosphonates),
Imaging: Plain radiographs (mixture of lytic and sclerotic lesions), bone
scan (increased uptake, assessing the extent of disease).
Special tests: Bone biopsy (for histological analysis if sarcomatous
change suspected).
Treatment:
Non-pharmacological: Educate about the diagnosis, physiotherapy,
occupational therapy, walking aids, hearing aids.
Medical: Analgesia; disease specific treatment if symptomatic or
sometimes if very high ALP, is with a bisphosphonate.
Surgical: Fixation of tumours, excision of tumours.
Questions:
What are the complications of Pagets disease? Pain, pathological
fracture, sarcomatous change, high output heart failure, compression
neuropathies resulting in symptoms like weakness or deafness, spinal
stenosis and compression causing paraplegia, hydrocephalus.
Psoriatic Arthropathy
Scenarios: Rash, joint pain, back pain.
Questions to ask:
When did the rash start and how has it progressed since then?
Is the rash sore, painful or itchy?
Where does it affect elbows, knees, scalp, bellybutton, between your
buttocks, ears, sites of old scars?
Have you noticed any nail changes?
Have you noticed any joint pain, stiffness or swelling which joints,
when are they most painful, how long does stiffness last in the morning,
is the lower back affected?
Have you had any redness or pain in the eyes?
What makes it better or worse?
Do you smoke, drink alcohol or have you started any new medications
recently?
Do you have any other medical problems? Are you taking any
medications or creams?
Does anyone in the family have skin problems, bowel problems or
arthritis?
Systems to examine:
Dermatological: Erythematous plaques with a scaly surface
predominantly over the extensor aspects, scalp, navel and natal cleft
which may demonstrate Koebeners phenomenon; pitting and ridging
of the nails with subungual hyperkeratosis and nail plate dystrophy.
Musculoskeletal: Asymmetrical arthropathy affecting the DIPJs, large
joint oligoarthritis, dactylitis, spondylitis, rheumatoid-like, arthritis
mutilans, tendonitis.
Ocular: Conjunctivitis, anterior uveitis.
Cardiovascular: Aortic regurgitation (mostly in those with co-existent
ankylosing spondylitis).
Respiratory: Apical lung fibrosis (if ankylosing spondylitis also present),
basal lung fibrosis (if the patient is taking methotrexate).
Joint disease: Seronegtive (ankylosing spondylitis, inflammatory bowel
disease associated arthritis, reactive arthritis related to diarrhoeal or
sexually acquired infections), crystal (gout), degenerative (osteoarthritis
including nodal OA).
Skin disease: Eczema, fungal skin infections, lichen plans, discoid lupus.
Investigations:
Bedside tests: Urine dipstick (proteinuria of amyloidosis, pregnancy test
if on immunsuppressants).
Bloods: FBC (anaemia, raised WCC), CRP/ESR (markers of
inflammation), U&Es (use of NSAIDs), LFTs (baseline pre-
immunsuppressants started), HLA B27 testing (seronegative
spondyloarthropathies).
Imaging: Plain radiographs of joints (erosions, pencil-in-cup deformity,
ankylosis and subluxation, periosteal new bone
formation), musculoskeletal ultrasound or MRI (early joint and soft
tissue inflammation).
Special tests: Biopsy (epidermal hyperproliferation and infiltration of
inflammatory cells).
Management:
Non-pharmacological: Education, smoking cessation, reduce alcohol
intake, stop exacerbating medications, physiotherapy, occupational
therapy.
Medical: Topical agents for skin disease (emollients, steroids, vitamin D
analogues, coal tar, dithranol), phototherapy (UVB, PUVA/psoralen plus
UVA; the latter carries an increased risk of SCC and photoageing),
systemic oral medications (methotrexate, sulfasalazine, cyclosporin A,
acitretin), biologic immunsuppressants (anti-TNF, anti-IL 12/23 like
ustekinumab or anti-IL17 like secukinumab). Future therapies could
include PDE4 inhibitor like apremilast Like other inflammatory
conditions there is an increased incidence of cardiovascular disease, so
modifiable risk factors should be addressed.
Surgical: Joint replacements.
Questions:
What medications may precipitate a flare of psoriasis? Lithium, beta
blockers, anti-malarials (e.g.: HCQ causing an exfoliative dermatitis),
and during the withdrawal of systemic steroids. The latter can lead to
generalised pustular or erythrodermic disease as a result, steroids
only tend to be used topically or intra-articularly in psoriasis.
What types of psoriasis are there? Plaque, pustular, guttate, flexor,
erythrodermic.
What infection commonly precipitates an attack of guttate
psoriasis? Group A beta-haemolytic streptococcal infection, otherwise
known as streptococcus pyogenes.
What is Auspitzs sign? Small punctuate areas of bleeding on the plaque
where the scale has come off and revealed the enlarged dermal
capillary.
How would you advise a patient to manage an acute flare up of their
joint pain?
Non-pharamcological: Cold/ice (to hot and swollen joints), warm baths
or compresses (to tender and aching joints and muscles), physiotherapy
to maintain mobility and muscle strength, intermittent use of splints
(e.g.: at night) to rest painful joints.
Medical: NSAIDs if tolerated (+/- PPI), can also use paracetamol and
codeine, steroids will rapidly reduce disease activity but need to be
used with caution due to the risk of precipitating pustular or
erythrodermic disease on withdrawal, the best option is an IA injection
with concomitant aspiration of fluid to relieve pain but if more
widespread and small joint involvement, oral or IM may be an option
(consider discussing with rheumatology first).
Rheumatoid Arthritis
Scenarios: Joint pain, joint swelling, joint deformities, aches, shortness
of breath.
Questions to ask:
Do you have joint pains which joints are affected, when is the pain at
its worst, do they ever become hot or swollen, do they feel stiff in the
morning and how long does this stiffness last?
Do you take pain killers which ones, do they help, if youve used things
like ibuprofen did they give you any heartburn?
Have you noticed your eyes being red, painful, or dry and gritty?
Have you had any rashes or noticed any lumps and bumps?
Have you had any shortness of breath, cough or chest pain?
Any recent infections?
Do have any other medical problems, are you on any medications?
Are there any conditions that run in the family?
Whos at home with you and how are you coping at home, do you have
any adaptations in place to make things easier?
Are you still working, when did you retire, what made you stop?
Do you smoke, ever smoked, drink alcohol or use recreational drugs?
Do you have any questions or particular worries that you would like me
to address today?
Systems to examine: For this routine, start at the hands, checking there
are no psoriatic nail changes given that this is your main differential,
and work your way down the joints, look dorsal and feel the joints and
radial area sensory, check for synovitis, check for nodules on the
extensor surface of the arms, then as they place the hands back down
get them to do it so youre now looking at the palms, check again for
scars, wasting, erythema, and check sensation and capillary refil time,
move on to function by asking them to copy movements like grip, finger
pincer and wrist movements, before asking them to do specific tasks
like writing or doing a button. Once youve satisfied yourself that this is
a symmetrical deforming polyarthropathy of the small joints of then
hands move up to the eyes for dryness and conjunctival pallor, sit
them forward and look behind the ears and in the hairline for psoriatic
rashes, check the neck for scars from atlantoaxial subluxation, and
listen at the lung bases for fibrotic changes, then lie them flat and try to
feel if there is any splenomegaly before checking the shins for
ulceration and rashes.
Cutaneous: Vasculitic rashes, nail fold vasculitis, palmar erythema,
rheumatoid nodules at the elbows, erythema nodosum, pyoderma
gangrenosum.
Musculoskeletal: Symmetrical arthropathy of the small joints of the
hands with ulnar deviation and dorsal subluxation, z-thumb,
boutoniers and swan neck deformities, wasting, features of carpal
tunnel syndrome (thenar wasting, weakness of thumb abduction and
opposition, sensory loss over lateral 3.5 digits on palmar aspect,
positive Tinels and Phalens tests, carpal tunnel release scar); comment
on the presence or absence active synovitis, and the functional loss
caused by the disease (buttons, writing, grip strength).
Ocular: Erythematous, dry eyes.
Respiratory: Fine end-inspiratory basal crepitations of the lungs; stony
dull percussion note, reduced air entry, and reduced vocal resonance.
Abdomen: Splenomegaly (Feltys syndrome).
Neurological: Atlantoaxial subluxation can lead to cervical cord
compression (spastic quadri- or para-paresis).
Osteoarthritis, nodal osetoarthritis.
Inflammatory: HLA B27 associated (psoriatic, inflammatory bowel
disease associated, sexually acquired infection or infective diarrhoea
related such as reactive arthritis), systemic lupus erythematosus
(usually Jaccouds reducible deformities), sarcoidosis.
Crystal: Gout, pseudogout.
Infective: Septic arthritis (staphylococcus aureus, gonococcal,
tuberculous), parvovirus related, hepatitis, Lymes disease.
Rarities: Multicentric reticulohistiocytosis (coral beading around the
nail fold), paraneoplastic (e.g.: hypertrophic pulmonary
osteoarthropathy).
Investigations:
Bedside tests: Urine dipstick (proteinuria secondary to membranous
nephrotic syndrome or amyloidosis), temperature (infection), oxygen
saturations (lung fibrosis), calculate DAS28 using phone app (baseline
disease activity score, useful for monitoring activity from visit to visit
and response to treatment).
Bloods: FBC (anaemia of chronic disease, raised inflammatory markers,
platelets pre-aspiration), U&Es (NSAID use, pre-immunsuppressants
starting), LFTs (pre-immunsuppressants starting), clotting (pre-
aspiration), CRP/ESR (raised), rheumatoid factor (positive, not specific,
very commonly positive in presence of rheumatoid nodules and Feltys
syndrome), anti-cyclic citrullinated peptide (positive, more specific; test
if RF negative); optimise cardiovascular risk facts such as blood
pressure, diabetes and cholesterol as this is the main cause of death in
these individuals.
Imagining: Plain radiographs of the joints (soft tissue swelling, joint
space narrowing, erosions, peri-articular osteopaenia, subluxations,
deformities), musculoskeletal USS (soft tissue swelling), MRI
joints (more detailed structural information and early inflammation).
Special tests: Joint aspiration (raised white cell count).
Management:
Non-pharmacological: Education, information leaflets, support groups,
physiotherapy, occupational therapy, podiatry; specific advice for hot
and swollen joints (ice and elevate, intermittent use of splints), and stiff
and achey joints (warm bath or compress).
Medical: Analgesia (pain ladder, topical NSAIDs, oral NSAIDs often
useful, consider gastroprotection and check U&Es), intra-articular
steroids, intramuscular steroids (if flare and waiting for DMARDs to
take effect), oral steroids (consider gastroprotection, bone protection,
medic alert bracelets), disease modifying anti-rheumatic medications
(start early; methotrexate plus sulphasalazine, leflunomide,
hydroxychloroquine), monoclonal antibody therapies (if x2 DMARDs fail
anti-TNF, anti-IL6, abatacept).
Surgical: Joint replacement, joint fusion, tendon transfer.
Questions:
What do you need to tell a patient before they start on
methotrexate? Explain that it is not a painkiller, that it works by
reducing inflammation over a longer period of time and prevents flares
from happening and long term joint damage progressing. As a result,
well often start it at the same time as a short course of steroids so that
they get the disease under control while we wait for the methotrexate
to kick in. Because it suppresses the immune system they are more at
risk of infections, and simple infections may become more severe than
normal, so we would advise them to seek medical advice early, even for
mild infections like a sore throat. Other common side effects include
sickness, diarrhoea, mouth ulcers, and hair loss. Some of these are
improved by changing the dose, and by giving an additional tablet
called folic acid. The methotrexate is taken once a week, followed by a
6 day break. They will need a baseline blood test and chest x-ray, and
then need to have regular blood tests after this. We advise against
drinking lots of alcohol on it, avoiding some vaccinations, and patients
shouldnt get pregnant on it.
What diagnostic criteria are used in rheumatoid arthritis? The American
College of Rheumatology criteria can be applied in those with synovitis
and a clinical suspicion of RA. They look at 4 key areas including the
number and size of joints affected, the duration if symptoms, serology
(rheumatoid factor or anti-CCP), and elevation of ESR or CRP.
Sarcoidosis
Scenario: Painful rash, skin changes, eye pain, cough and
breathlessness.
Questions to ask:
Have you been feeling more tired and fatigued?
Have you noticed any cough, shortness of breath or wheeze?
Have you had painful eyes or changes in your vision?
Have you noticed any skin rashes?
Have you had any lumps, bumps, weight loss, or night sweats?
Have you experienced headaches, weakness or numbness?
Have you noticed constipation, abdominal pain or changes in your
mood?
What other medical problems do you have, are you on any medications,
are there any conditions that run in your family?
What jobs have you had in the past have you ever been exposed to
beryllium?
Systems to examine:
Cutaneous: Erythema nodosum, hypo- and hyperpigmentation, lupus
pernio, maculopapular rashes, nodules, Koebners phenomenon (scars,
tattoos).
Haematological: Lymphadenopathy, parotid enlargement; Cushingoid
appearance.
Ocular: Anterior uveitis, posterior uveitis, optic neuropathy,
papilloedema, lacrimal gland enlargement.
Musculoskeletal: Hot, swollen and/or tender joints, myopathy.
Respiratory: Fine end-inspiratory crepitations anteriorly (upper lobe
predilection), wheeze.
Abdominal: Splenomegaly, hepatomegaly.
Neurological: Cranial nerve palsies, meningism (meningeal infiltration
and/or inflammation), peripheral neuropathy, symptoms of a space
occupying lesion.
Infection: Tuberculosis.
Haematological: Lymphoma, common variable immunodeficiency
(CVID).
Toxic: Beryllium hypersensitivity reaction (dentists, dental technicians,
fluorescent lamp workers, factories, miners etc).
Investigations:
Bedside tests: ECG (arrhythmia, conduction block), oxygen
saturations (pulmonary involvement).
Bloods: FBC (anaemia), U&Es (high sodium secondary to diabetes
insipidus, renal impairment related to hypercalcaemia and
dehydration), CRP/ESR (raised), bone
profile (hypercalcaemia), LFTs (commonly mildy
deranged), immunogloblins (polyclonal gammopathy), serum
angiotensin converting enzyme levels (lack sensitivity and specificity).
Imaging: Chest radiograph (bihilar lymphadenopathy, infiltrates), high
resolution computed tomography of the chest (intrathoracic
lymphadenopathy, fibrosis), MRI plus gadolinium of heart or brain (for
cardiac and neurological sarcoidosis), gallium-67 scan or PET
scan (assessing extent of disease and monitoring response).
Special tests: Spirometry (restrictive defect, impaired gas
transfer), tissue biopsy (skin, lymph nodes, or via bronchoscopy or
mediastinoscopy; non-caeseating granulomas which are negative for
fungi and mycobacteria), slit lamp (posterior uveitis may be
asymptomatic), if reporting palpitations or ECG abnormalities
consider echocardiogram, holter monitoring, cardiac magnetic
resonance imaging (rare but risk of sudden death).
Management:
Non-pharmacological: Advice, support, education and often re-
assurance.
Medical: Paracetamol and NSAIDs (eg: for Lofgrens), topical steroids
(ocular), oral steroids (stage 2 or 3 lung disease with mod-sev or
progressive symptoms or deteriorating lung function or imaging;
hypercalcaemia; neurological or cardiological involvement; with bone
and gastroprotection, consider baseline DEXA as long courses often
required), immunosuppression (hydroxychloroquine, methotrexate,
azathioprine, cyclophosphamide), biologics (anti-TNF like infliximab).
Questions:
What different forms of sarcoidosis are there?
Lofgrens syndrome: Erythema nodosum, bihilar lymphadenopathy,
athralgia, fatigue and malaise.
Heerfordts syndrome: Uveitis, parotidomegaly, facial nerve palsy.
What is the Kveim Test?
How do you stage the radiographic findings of the chest in sarcoidosis?
What does the Mantoux test usually show in these patients? Typically
negative because the activated T cells that usually cause the reaction
are in the lung.
Scleroderma (Systemic Sclerosis)
Scenarios: Cold hands, joint pains, hand swelling, skin tightness,
problems swallowing, shortness of breath.
Questions to ask:
Do you notice that your hands change colour in the cold if so, does it
go through three colours of white, blue then red? Is it painful? How
much of the hand is affected? How long does it take to go back to
normal? Do you ever develop ulcers as a result? Does it effect other
areas such as the tip of your nose or your ear lobes? When did this start
happening? Does anyone else in the family have this problem?
Have you noticed any skin changes swollen, tight, difficult to move,
cracking?
Have you noticed little red marks on the skin like little visible blood
vessels?
Any joint pains or swelling?
Any muscle pains?
Do you have any problems swallowing or experience heartburn and
reflux?
Any diarrhoea or constipation, any abdominal pain?
Any shortness of breath or dry cough?
Do you have any other medical problems or are you taking any
medications (eg: beta blockers) or have any allergies?
Any conditions that run in your family?
Do you have any particular concerns?
Systems to examine:
Skin: Swollen extremities (non-pitting), sclerodactyly (localised thinking
of fingers and toes distal to the MCP or MTP joints), telangiectasiae,
calcinosis, hypo- and hyperpigementation, determine if skin
involvement is limited to the face and arms/legs distal to elbows/knees
(localised systemic sclerosis) or involves the trunk and proximal limbs
(diffuse systemic sclerosis), beaked nose, microstomia.
Respiratory: Fine end-inspiratory crackles at the bases that do not
change with coughing.
Cardiovascular: Raised JVP, left parasternal heave, palpable P2, loud P2,
peripheral oedema.
Dermatomyositis: Mechanics hands, periungal erythema, Gottrons
papules, photosensitivity, heliotrope rash, proximal myopathy.
Systemic lupus erythematosus: Malar rash, jaccouds arthropathy,
scarring alopecia, photosensitivity, aphthous ulcers.
Mixed connective tissue disease: Features of SLE, scleroderma and
polymyositis.
Chronic graft versus host disease.
Investigations:
Bedside tests: Oxygen saturations (interstitial lung disease, poor
peripheral perfusion), arterial blood gas (interstitial lung
disease), blood pressure (scleroderma renal
crisis), urine dipstick (scleroderma renal crisis although GN rare in
renal crisis, so the BP is the most important measure in scleroderma in
contrast to other autoimmune CT diseases), electrocardiogram (right
heart strain ST depression and/or T wave inversion V1-V3 and III).
Bloods: FBC (anaemia), U&Es (scleroderma renal crisis if
present/suspected also request blood film for fragments), anti-nuclear
antibody (positive in most), anti-Scl70/topoisomerase I (predictive of
renal and pulmonary disease), anti-centromere (limited systemic
sclerosis and increased risk of pulmonary hypertension), anti-
RNApolIII (high risk subset with often severe cutaneous disease and
high risk of progression to scleroderma renal crisis).
Imaging: Chest radiograph (reticular shadowing lower zones), high
resolution computed tomography of the chest (ground glass changes,
honeycombing, traction bronchiectasis), echocardiogram (right
ventricular hypertrophy).
Special tests: Capillaroscopy (looking for abnormal nail fold
capillaries), thermography with cold challenge (Raynauds
severity), spirometry (restrictive lung defect, reduced transfer
factor), endoscopy (oesophagitis).
Treatment:
Non-pharmacological: Education (including patient uk and scleroderma
society), hand warmers, avoiding the cold, physiotherapy, occupational
therapy, speech and language therapy, smoking cessation.
Medical: Prokinetics, antacids, PPIs, cyclical antibiotics (SBBO); calcium
channel blockers (nifedipine); phosphodiesterase 5 inhibitors
(sildenafil), prostacyclin infusions (iloprost), endothelin receptor
antagonist (bosentan), anti-coagulation, diuretics, long term or
ambulatory oxygen therapy; methotrexate, mycophenolate mofetil,
cyclophosphamide (lung fibrosis, skin tightening); ACE-inhibitors.
Surgical: Lung transplant, contracture release, excision of calcinosis.
Questions:
What are the long term risks in those with pulmonary
fibrosis? Progressive respiratory failure, pulmonary hypertension, lung
cancer (x5 increased risk), cor pulmonale.
What is the typical histological subtype of pulmonary fibrosis in these
patients? Non-specific interstitial pneumonia.
What are the long term risks in those with pulmonary hypertension? Cor
pulmonale, pulmonary thrombosis.
Would you use steroids in Systemic Sclerosis? No very little chance of
benefit, and also an increased rid of infections and renal crisis.
How do you investigate GI disease in patients with scleroderma?
Depends on the most likely site. Oesophageal endoscopy, barium
swallow, manometry. Stomach endoscopy, gastric emptying studies.
Small bowel hydrogen breath test, MRI or CT enterography, faecal
elastase. Colon colonoscopy, CT. Anorectal Proctoscopy and flexible
sigmoidoscopy, anorectal physiology.
Systemic Lupus Erythematosus (SLE)
Scenarios: Joint and muscle pains, joint swellings, skin rashes, hair loss,
mouth ulcers.
Questions to ask:
Have you noticed feeling more tired than normal, or having weight loss
or fevers?
Have your joints been hurting which joints, when is the pain at its
worst, is there morning stiffness and if so how long does it last, have
they ever been hot or swollen?
Have you had hair loss, mouth ulcers, sensitivity to the sun, or rashes?
Do you notice that your fingers change colour and become painful in the
cold?
Have you had chest pain, cough, shortness of breath or palpitations?
How do these symptoms affect your day-to-day life and mood?
Do you have any other medical problems, have you ever had a blood
clot or miscarriage?
Are you on any medications? Did you start taking any of these
medications just before the symptoms started?
Is there a family history of any medical problems?
Any recent travel, any contacts unwell, any contact with tuberculosis?
Are you pregnant, breastfeeding, or planning to have a family?
Systems to examine:
Cutaneous: Vasculitic rashes, nail fold vasculitis, hypopigmentation,
hyperpigmentation, malar rash (erythematous rash over the bridge of
the nose that spares the nasolabial folds), telangiectasia, discoid lupus,
alopecia, photosensitivity, livedo reticularis.
Musculoskeletal: Jaccouds arthropathy (reducible joint deformities).
Ocular: Cytoid bodies, papilloedema.
Oral: Mouth ulcers.
Haematological: Pale palmar creases, pale conjunctivae,
lymphadenopathy.
Cardiovascular: Peri-cardial rub; raised jugular venous pressure, right
ventricular heave, loud P2, peripheral oedema; murmurs (Libman-Sacks
Endocarditis).
Respiratory: Pleural rub; stony dull percussion note, reduced air entry,
reduced vocal resonance.
Iatrogenic: Drug induced lupus.
Inflammatory: Systemic sclerosis (calcinosis, telangiectasiae, Raynauds,
sclerodactyly, microstomia), dermatomyositis (mechanics hands,
gottrons papules, photosensitive rash, heliotrope rash, features of
malignancy), mixed connective tissue disease (features of SLE,
scleroderma, myositis, and Raynauds).
Investigations:
Bedside tests: Urine dipstick (proteinuria, haematuria, pregnancy test if
young female given repercussions on the disease and
immunsuppressants), blood pressure (hypertension in renal disease,
hydralazine treatment causing drug induced
lupus), electrocardiogram (widespread ST elevation if pericarditis, right
heart strain if pulmonary hypertension), calculate BILAG score using
phone app (disease activity measurement to guide activity between
clinic visits and response to treatment).
Bloods: FBC (anaemia of chronic disease, leukopaenia,
thrombocytopaenia), U&Es (renal failure, pre-
immunsuppressants), LFTs (pre-immunsuppressants), CRP (if raised
suggests infection), ESR (raised in active disease), ANA (positive,
sensitive), ENA (anti-Ro, anti-La, anti-Smith), anti-dsDNA (positive,
specific), complement (low in active disease, complement deficiencies
can predispose to SLE), anti-histone (if drug induced cause
suspected), anti-cardiolipin and lupus anticoagulant (if features of APS
on history or examination).
Imaging: Plain radiographs of the joints (typically non-erosive), chest
radiograph (effusions, nodules, infiltrates), echocardiogram (pericardial
effusion, sterile valve vegetations).
Special tests: Anti-C1q (raised in active renal disease), urine
protein:creatinine ratio (to quantify proteinuria), urine for red cell
casts (glomerulonephritis), skin biopsy (confirm diagnosis), renal
biopsy (stage disease and determines management).
Management:
Non-pharamcological: Advice (tailored to patient e.g.: conception issues
in a young female with SLE), support groups, specialist nurse contact
detail, physiotherapy, occupational therapy, suncream, sunglasses,
avoiding the sun, smoking cessation.
Medical: Analgesia (pain ladder paracetamol, NSAIDs, mild opiates),
steroids (with bone and gastroprotection), hydroxychloroquine (for skin
disease and athralgia), methotrexate (predominantly for skin disease
and athralgia) cyclophosphamide (renal and cerebral lupus,
sometimes with pulsed methylprednisolone, prior to maintenance with
MMF or azathioprine), azathioprine (to maintain remission, can be used
during pregnancy), rituximab (anti-CD20, if conventional treatments
fail); optimise cardiovascular disease management including
hypertension (ACEi good for proteinuria too), diabetes and
hypercholesterolaemia as they are at high risk of heart attacks and
strokes, and it is now the biggest cause of mortality in SLE patients.
Surgical: Renal transplant.
Questions:
What medications can cause drug induced lupus? Hydralazine,
procainamide, isoiazid.
What does being a slow or fast acylator mean in the context of drug
induced lupus? Most patients who develop drug induced lupus with
hydralazine are slow acetylators, leading to the hypothesis that
acetylation inactivates the drug which can build up to significant levels
in those who metabolise it slowly leading to drug induced lupus. Other
theories of how drugs cause DIL are based on the fact that they all
undergo oxidative metabolism, leading to free radical production that
may affect immune functioning.
How does drug induced lupus differ from SLE? Equal sex distribution,
absence of renal involvement with predominant muscle and joint pains
with flu-like symptoms and serositis, almost all are positive for anti-
histone antibodies and complement levels tend to be normal.
What should you tell someone with drug induced lupus? Most cases
resolve within a couple of weeks of stopping the medication, in the
interim symptoms can be managed with analgesics like NSAIDs, or even
a short course of steroids. The condition can develop months, or even
years, after starting the drug.
What is the most concerning complication of hydroxychloroquine
therapy? Hydroxychloroquine retinopathy. This is very rare and mostly
seen in those who have been on it for >5 years and at high dose. Always
ask about visual changes and refer for ophthalmology review if
concerned.
What are the possible causes of anaemia in SLE? Anaemia of chronic
disease, NSAID associated peptic ulcer disease or gastritis,
myelosuppression, folate deficiency related to methotrexate use, B12
deficiency related to co-existent pernicious anaemia, autoimmune
haemolytic anaemia, hypersplenism.
What staging system is used for lupus nephritis? WHO classification.
The commonest form is type IV diffuse proliferative.
What is mixed connective tissue disease? Overlapping clinical features
of SLE, scleroderma, myositis and Raynauds phenomenon are present.
They are usually ANA positive with positive anti-U1 RNP with additional
features like elevated inflammatory markers and CK.
Central Retinal Artery Occlusion
Scenarios: Loss of vision, tunnel vision.
Questions to ask:
When did the symptoms start, one eye or both eyes (monocular), did it
come on suddenly (over seconds), did it hurt (painless), how has it
progressed since then, any previous episodes (amaurosis fugax)?
Any pain in the scalp, headaches, aching muscles, weakness of the
muscles, difficulty rising from a chair, pain in he jaw or mouth when
eating, weight loss, fevers, night sweats?
Any numbness, weakness, difficulty with speech, swallow or hearing?
Any palpitations, shortness of breath, swollen ankles, breathless lying
flat or waking up gasping for breath?
Any pain in the legs when you walk, how long does it take to develop,
how far can you walk?
Any other medical problems specifically, high blood pressure, high
cholesterol, diabetes, angina, peripheral vascular disease, previous
heart attack or stroke?
Are you on any medications, any allergies?
Any conditions that run in the family?
Do you smoke, ever smoked, or take recreational drugs like cocaine?
What do you do for a living, do you drive?
Whos at home with you, how is their health?
Any particular worries or questions for me to answer?
Systems to examine:
Ocular: Acuity (counting fingers), fields (central vision may be spared),
blind spot, accomodation, eye movements, pupillary light reflexes
(relative afferent pupillary defect), fundoscopy (pale retina, cherry red
macula, thrombus may be visible, thin arterioles).
Immune: Feel for tender and pulse less temporal arteries.
Cardiovascular: Finger prick marks of diabetes, splinter haemorrhages,
oslers nodes, janeway lesions, irregularly irregular pulse, blood
pressure measurement, auscultate the carotids, feel the apex beat,
auscultate the hear sounds.
Atheroembolic: Hypertension, diabetes, smoking, atrial fibrillation,
valvular vegetations.
Inflammatory: Giant cell arthritis, polyarteritis nodosa, SLE.
Thrombophilia: Inherited (factor V Leiden, protein C deficiency etc) or
acquired (anti-phospholipid syndrome).
Toxic: Cocaine.
Investigations:
Bedside tests: Blood pressure (hypertension), electrocardiogram (atrial
fibrillation, left ventricular hypertrophy), urine dipstick (proteinuria,
glycosuria), temperature (endocarditis).
Bloods: ESR (elevated in GCA), lipid profile (hypercholesterolaemia),
fasting glucose (diabetes).
Imaging: Carotid dopplers (carotid artery stenosis on the ipsilateral
side).
Management: Recognise that this is an ophthalmological emergency so
the patient should be reviewed by an ophthalmologist immediately (ie:
same day).
Non-pharmacological: If theyve presented within 90 minutes apply
firm ocular massage; counsel on the diagnosis, refer urgently to
ophthalmology, advise healthy lifestyle (smoking cessation, weight loss,
reduce alcohol intake, healthy diet, exercise); refer to low visual aid
clinic for advice on psychological support, aids, talking books,
magnifiers, and ensure refractive errors corrected.
Medical: If GCA, start high dose steroids immediately (eg: 1mg/kg of
prednisolone); optimise cardiovascular risk profile and consider starting
low dose aspirin.
Surgical: Carotid endarterectomy.
Questions:
What are the complications of central retinal artery occlusion?
Neovascularisation including rubeotic glaucoma.
Diabetic Retinopathy
Classification:
You will need to decide which stage of disease the patient is in:
Background diabetic retinopathy: Dots, blots and hard exudates.
Pre-proliferative diabetic retinopathy: Cotton wool spots, intra-retinal
microvascular abnormalitis (IRMAs), venous beading and looping.
Proliferative diabetic retinopathy: New vessel formation at the disc
and/or elsewhere.
And then comment on the presence or absence of:
Maculopathy: Hard exudates, cotton wool spots, or haemorrhages
within two disc diameters of the macula.
Cataracts: Senile cataracts develop at younger age, snow-flake (in
young diabetics), reversible osmotic (severe uncontrolled
hyperglycaemia).
Other abnormalities: Retinal detachment, intra-ocular haemorrhage,
rubeosis iridis, optic neuropathy, ocular muscle palsies, retinal vein
occlusion, glaucoma.
If Ive seen Diabetic Retinopathy: Look for diabetic finger prick marks,
foot ulcers, and offer to examine visual acuity and for peripheral
neuopathy. Then request further investigations looking for other signs
of end organ damage:
Blood pressure (typical target <130 systolic).
ECG, and enquire about a past medical history of stroke or myocardial
infarction.
Urine dipstick for proteinuria, and sample sent for a urine
protein:creatinine ratio.
If young female, consider urine dipstick for pregnancy test (retinopathy
typically progresses in pregnancy).
Baseline bloods including U&Es (renal function), fasting glucose
(raised), HbA1c (typical target 45-58mmol/mol), and cholesterol
(raised).
Management:
Non-pharmacological: Smoking cessation, dietary modifications, weight
loss, DVLA considerations.
Medical: Tight blood glucose control (ACE-i if tolerated), anti-
hypertensives, cholesterol lowering agents (statins +/- fibrate,
ezetimibe); very rarely ophthalmology may utilise intravitreal steroids
or anti-VEGF agents.
Surgical: Photocoagulation (focal or panretinal), vitrectomy if large
bleed.
Referral: Ophthalmologists will investigate the patient further using slit
lamp and optical coherence tomography (OCT; for macular oedema)
and fluorescein angiography. Referral urgency dictated by symptoms:
Urgent (same day): Sudden visual loss, retinal detachment, pre-
retinal/vitreous haemorrhage, rubeosis iridis.
Rapid (within 2 weeks): Proliferative retinopathy (so that laser
treatment can be given, and thus vitreous haemorrhage or a tractional
retinal detachment can be prevented).
Routine (within 13 weeks): Pre-proliferative or maculopathy.
Driving and diabetes:
The key factors to identify if a patient is asking about driving is:
Group 1 or 2 driver.
Presence of impaired vision due to diabetes, refractive errors or other
eye disease; attendance at retinopathy screening, previous treatment
for retinopathy, most recent visit to an optician.
Use of insulin or sulfonylureas.
Hypoglycaemic attacks, how often, awareness of hypoglycaemia, need
for someone else to help them (eg: paramedics giving treatment,
partner giving treatment because the could not do it themselves).
If they hold a group two licence, and are on insulin they need to have a
glucometer with memory function and be able to show you regular
monitoring on their machine without hypoglycaemia etc.
Triggers to inform the DVLA would include:
Hypoglycaemia requiring assistance: Twice for group 1, once for group
2.
Hypoglycaemic unawareness: May result in licence being revoked for
group 1, will result in loss of licence for group 2.
Starting insulin for group 1.
Starting any medical therapy for diabetes for group 2,
General advice:
Check BM before driving if on insulin or sulphonylurea.
Have a snack to hand.
If you develop symptoms of hypoglycaemia, stop the car, pull over, take
the keys out of the ignition and get into the passenger side.
Questions:
What are the side-effects of photocoagulation? Pain during the
procedure, vitreous haemorrhage may be precipitated, reduction in
visual fields, transient macular oedema leading to temporary increasing
visual impairment.
How often should patients with diabetes be screened for
retinopathy? Annually with dilated retinal photography; screening
should take place more regularly during pregnancy.
What are the risk factors for diabetic retinopathy? Longer duration of
diabetes, hyperglycaemia, pregnancy, hypertension and nephropathy.
How does the appearance of diabetic retinopathy differ from that of
hypertensive retinopathy? Hypertensive retinopathy is defined as stage
1 (copper and silver wiring, meaning an increased light reflex of the
vessels), stage 2 (AV nipping), stage 3 (cotton wool spots and flame
haemorrhages), stage 4 (optic disc swelling). Stage 3 or 4 should be
considered a medical emergency and the patient urgently assessed for
other end organ damage (LVH, proteinuria, encephalopathy), a possible
underlying secondary cause (via the physical exam and initial
investigations) and initiated on treatment (IV nitroprusside, labetalol,
nifedipine or if due to phaeochromocytoma then with phentolamine),
Macular disease
Age related macular degeneration:
Dry: Atrophy and drusen at the macula. Optimise refraction and refer to
a low visual aid clinic for advice, counselling, large print, talking tapes,
magnifying glasses etc.
Wet: Hameorrhage and drusen at the macula. Lines do not look straight
at the centre of the grid. Refer to ophthalmology where they will use
anti- VEGF.
Macular scar:
Differential diagnosis (ToRCHES): Toxoplasmosis, rubella, CMV, herpes,
syphilis)
Management: If acute this is an emergency due to the risk of visual
loss and encephalitis with herpetic infections for example, so discuss
with ID team ASAP.
Optic Atrophy
Scenarios: Change in visual acuity or colour perception.
Examining optic atrophy: Look at the disc for its cup (there may be an
increased cup-to-disc ratio if due to glaucoma), colour (pale) and
contour (clearly demarcated or blurred). Examine the remainder of the
retina for other abnormalities suggestive of a particular underlying
cause, and ascertain if unilateral or bilateral.
History:
Have you noticed any change in your vision, or in how you see colours?
For example, do red things look less red than they used to?
How quickly did the visual problems come on and have you experienced
any pain in the eye?
Have you noticed any other problems episodes of weakness,
unsteadiness, headaches etc?
Do these symptoms get worse in the heat or do you get shooting pains
down the back on flexing your neck?
Have you had any eye problems in the past?
Are you on any medications specifically any treatments for erectile
dysfunction like viagra?
Does anyone in the family have any problems?
Do you smoke? Drink alcohol? Use recreational medications?
Any tattoos, blood transfusions, operations abroad; are you sexually
active, casual or regular partners, male or female?
If I see optic atrophy: Explain that you would like to examine for a
relative afferent pupillary defect and for red de-saturation using a red
hat pin both of which are features of optic neuritis. Assess for visual
field abnormalities like a central scotoma. Then examine eye
movements looking for nystagmus or an internuclear ophthalmoplegia
(multiple sclerosis) and a lateral rectus/6th nerve palsy (raised
intracranial pressure), and look over the temporal artery for previous
biopsy scar (temporal arteritis). Perform a neurological examination of
the remainder of the cranial nerves and upper and lower limbs,
including a cerebellar examination (multiple sclerosis, Friedreichs
ataxia).
Differential diagnosis: If unilateral and in the absence of obvious clinical
features of another condition the common differentials to give would
be optic neuritis due to a demyelinating disease, ischaemic optic
neuropathy (arteritic or non-arteritic), optic nerve trauma, or optic
nerve compression by an intracranial mass.
Congenital: Tay-Sachs, Retinitis Pigmentosa, Lebers optic neuropathy,
Friedreichs ataxia.
Optic nerve: Glaucoma, previous optic neuritis/papilloedema/AION,
compression by tumor/aneurysm/Pagets disease of the bone, trauma.
Retina: Central retinal artery occlusion.
Systemic: Toxic (alcohol, tobacco, isoniazid, glue sniffing), metabolic
(B12 deficiency).
Investigations: Depends on the underlying cause.
Bedside tests: Blood pressure (hypertension), urine dipstick (protein,
glucose, blood).
Bloods: FBC, ESR, CRP (inflammatory markers), B12 (deficiency), bone
profile and ALP (if you suspect Pagets), ACE, ANA, anti-phospholipid
antibodies (immune causes).
Imaging: MRI or CT plus contrast if intracranial lesion suspected.
Special tests: Visual evoked potentials (slowed conduction in
demyelinating disease).
Questions:
What is Foster-Kennedy syndrome? Intracranial tumour which directly
compresses the optic nerve on one side whilst causing raised
intracranial pressure resulting in a swollen optic disc on the other side.
Optic Disc Swelling
Scenarios: Headache, dimming of vision, tunnel vision, painful eye.
Examination of papilloedema: Look at the cup, colour (may be pale) and
contour (blurred margin). Note if there are spontaneous venous
pulsations (if present, raised intracranial pressure is unlikely). Asses if it
is unilateral or bilateral and if there are additional changes at the
retina.
History:
Have you experienced any headaches?
If yes Are they worse on wakening, bending down, coughing, or
straining? Is there associated nausea, vomiting, weakness, numbness,
fits or funny turns? Is there associated scalp tenderness, pain on
chewing food, or painful muscles?
Have you experienced any changes in your vision?
Have you ever had a blood clot in your legs or lungs or has anyone in the
family?
Are you on the oral contraceptive pill?
If Ive seen papilloedema: You should take a history, offer to examine
the cranial nerves and upper and lower limbs, in particular looking at
visual acuity (can be reduced), blind spot (can be increased), and visual
fields (tunnel vision); and obtain a set of basic observations including
heart rate, blood pressure and temperature.
Raised intracranial pressure (papilloedema): Absent spontaneous
venous pulsations, normal visual acuity until late. Idiopathic intracranial
hypertension, intracranial tumours (primary or secondary, benign or
malignant, and solid organ or haematological), intracranial infections
(abscesses, cysts, encephalitis, meningitis), intracranial granulomas
(tuberculosis, sarcoidosis), intracranial haemorrhage or oedema,
venous sinus thrombosis (pregnancy, pill, dehydration, congenital or
acquired thrombophilias).
Optic neuritis: Reduction in visual acuity, aching eye worse on moving
the eye.
Anterior ischaemic optic neuropathy: Reduction in visual acuity.
Arteritic: Giant cell arteritis.
Non-arteritic: Diabetes, hypertension, raised cholesterol.
Hypertensive retinopathy: Typically acute in onset with associated
haemorrhages, AV nipping.
Underlying metabolic issue: Hypercapnoea, hypocalcaemia, Gravess
disease, hypervitaminosis A.
Investigations:
Bedside tests: Urine dipstick (pregnancy testing in a young woman).
Bloods: Depends on the history but an urgent ESR if GCA suspected.
Imaging: CT or MRI head/orbits +/- venography and contrast (mass
lesions, venous sinus thrombosis, midline shift).
Management:
Depends on the underlying cause. For example in someone with
idiopathic intracranial hypertension you should remove the
precipitating cause if there is one, advise weight loss, offer analgesia,
consider acetazolamide, steroids, optic nerve sheath fenestration, or
ventriculoperitoneal shunt procedures.
Questions:
What is Foster-Kennedy syndrome? Unilateral optic swelling, with
contralateral optic atrophy (pale disc), due to an intracranial tumour
such as an olfactory groove meningioma on the side of the pale disc. As
the tumour enlarges it begins to cause raised intracranial pressure and
thus papilloedema.
Pupillary Abnormalities
Scenarios: Asymmetrical eyes, change in facial appearance.
Holmes Adie Pupil: Also called a myotonic pupil. The affected eye
shows mydriasis (dilated pupil) which responds sluggishly to light and
accommodation. Typically seen in otherwise healthy young women
who may also have absent or diminished knee and ankle reflexes. Re-
assure them.
Argyll Robertson Pupil: The affected eye (or both eyes) shows a small,
irregular pupil which accommodates but does not react to light (light-
near dissociation); the iris may also show depigmentation. Seen in
neurosyphillis and diabetes so offer testing for both these diagnoses
and check for tabes dorsalis (absent ankle jerk, upgoing plantar) and
diabetes (finger prick testing marks, peripheral neuropathy, insulin
injection site marks on abdomen or insulin pump in-situ). Ask for
syphilis serology non-treponemal like VDRL/RPR (may be negative in
these patients), and treponemal like TPHA/EIA (will be positive); and
then proceed to perform a lumbar puncture for VDRL (confirmatory if
positive but can get false negatives) and TPHA (suggestive if positive
but you do get false positives).
Relative Afferent Pupillary Defect: Also called a Marcus Gunn
Pupil. When you perform the swinging light test you should be
swinging between both eyes rapidly so that via the direct and
consensual light reflexes both pupils are repeatedly constricting.
However, if the light is not being adequately transmitted on one side,
as you swing onto the affected eye the direct reflex is weaker than the
consensual reflex from the contralateral side and the pupil will dilate in
response to reduced light being shone onto the contralateral eye. It is is
caused by asymmetrical defects and by definition can only be
unilateral. It is usually secondary to optic nerve disease such as neuritis,
compression or atrophy, retinal vein or artery occlusions, and optic
tract lesions (usually on the side with temporal visual loss, ie:
contralateral to the side of the lesion). As such the next step is to
perform fundoscopy looking for pale or swollen optic discs; in addition
to visual acuity which is commonly reduced. Reduced visual acuity with
an RAPD in a patient over 50 should be considered GCA until proven
otherwise, and investigated urgently in order to consider steroids.
Retinal Vein Occlusion (Branch or Central)
Scenarios: Sudden painless loss of vision.
Examining Retinal Vein Occlusion:
Central retinal vein occlusion: Optic disc swelling, widespread flame
shaped haemorrhages, tortuous and dilated veins, with cotton wool
spots.
Branch retinal vein occlusion: One vascular arcade affected by the
changes, distal to an arteriovenous crossing.
Hemi-retinal vein occlusion: A proximal enough defect that both the
temporal and nasal arcade is knocked off giving loss of either superior
or inferior field of vision.
Key negatives: Given the complications mention the absence of
rubeosis iridis, vitreous haemorrhage or signs of fibrosis and tractional
retinal detachments secondary to new vessel formation. Given the
association with hypertension note if there are other features of
hypertensive retinopathy such as AV nipping, increased light reflex of
the vessels (copper or silver wiring), hard exudates, cotton wool spots
and dot/blot haemorrhages.
History:
When did you notice a change in your vision?
Did you have any problems with your eyes before this, or have you ever
been seen by an ophthalmologist?
If I see Retinal Vein Occlusion: Assess for an RAPD, visual acuity and
visual fields. There may be a general reduction in acuity or a sectoral
loss. Note if patient appears plethoric, and if so offer to examine for
splenomegaly (polycythaemia rubra vera). Look for mucosal bleeding
such as crusted blood at the nostrils or bleeding from the gums
(hyperviscosity syndrome of Waldenstroms).
Glaucoma.
Vascular: Atherosclerosis (hypertension, diabetes, raised cholesterol,
smoking), vasculitis.
Haematological: Waldenstroms macroglobulinaemia, multiple
myeloma, polycythaemia rubra vera, sickle cell anaemia,
thrombophilias (congenital and acquired).
Investigations:
Bedside: Blood pressure (hypertension), finger prick glucose (diabetes),
urine dipstick (glycosuria and proteinuria in diabetes, proteinuria and
haematuria in vasculitis).
Bloods: FBC (polycythaemia, anaemia), fasting glucose (diabetes), lipids
(hypercholesterolaemia), ESR (raised), plasma
viscosity (hyperviscosity), blood film (polycythaemia, roleaux, sickle
cell), clotting screen (abnormalities suggestive of thrombophilias), and
consider the need for special tests based on the above and history
(i.e.: myeloma screen, anti-phospholipid antibodies, ANA, ANCA).
Management: This warrants urgent ophthalmological assessment.
Medical: Treat the underlying cause; ophthalmology will review patient
for consideration of intra-vitreal anti-VEGF (lucentis) and intra-vitreal
steroids.
Surgical/interventional: Laser, vitrectomy.
Questions:
What complications can develop in individuals with CRVO? New vessel
formation with subsequent vitreous haemorrhage, tractional retinal
detachment, rubeiosis iridis with angle closure glaucoma.
Retinitis Pigmentosa
Scenarios: Bumping into things (meaning there are problems with
peripheral vision), poor vision at night.
Examination:
Visual acuity: Often reduced.
Visual fields: Peripheral visual loss causing tunnel vision.
Fundoscopy: Pale optic disc (optic atrophy), pale retina, attenuated
blood vessels, bone spicule pigmentation (crosses blood vessels unlike
laser).
History:
Do you have particular difficulty seeing at night?
Do you have any problems with your hearing?
Do you have any problems with your heart?
Does anyone else in your family have similar problems with their vision?
The most common inheritance pattern is AR, but AD and X-linked are
also recognised.
If Ive seen retinitis pigmentosa..
Hands and skin: sclerodactyly or scar indicating finger amputation
(Laurence Moon Bardet Biedl Syndrome), icthyosis (Refsum).
Ears: hearing aids (Usher, Refsum, Kearns Sayre Syndrome) also look
for a white stick with red stripes.
Chest: pacemaker, ICD, and request an ECG (Kearns Sayre Syndrome).
Neurological examination: ataxia (Refsum, abetalipoproteinaemia,
Kearns Sayre Syndrome), peripheral neuropathy (Refsum).
As such, if you suspect it perform a full ocular examination including
acuity, fields, blind spot, accomodation, eye movements, pupillary
responses and fundoscopy; they ask to look at the hands, skin, round
the back of the ears, and onto the chest, auscultate the heart sounds
and ask them to walk.
Management: Ensure they are known to opthalmology and genetic
counselling has been offered. In addition to a general ophthalmological
evaluation they should undergo an electroretinogram which measures
rod and cone function. Consider amendments that may make ADLs
easier such as a white stick, guide dogs, and preparation for further
visual loss. Referral to a low visual aid clinic can be useful to arrange
some of these and provide adaptations. The patient should inform the
DVLA who will want to assess them prior to deciding on whether they
can drive. Medical treatments such as dietary modification work in a
small number of cases (eg: high vitamin A intake in
abetalipoproteinaemia), but other treatments available such as
antioxidants are not supported by research evidence.
Questions:
What is the pattern of inheritance? Variable can be AD, AR or X-
linked.
What is the natural history of the disease? Progressive visual loss
starting in childhood, with most patients experiencing complete loss of
vision during adulthood (although when this occurs is variable).
What is the differential diagnosis of peripheral visual loss? Retinitis
pigmentosa, glaucoma, optic disc swelling, pituitary tumour and other
chiasmal lesions, stroke, retinal artery occlusion and ischaemic optic
neuropathy.
What is Refsums disease? Autosomal recessive fatty acid oxidation
defect with high levels of phytanic acid which causes retinitis
pigmentosa, ataxia, peripheral neuropathy with pes cavus and icthyosis.
Chronic Obstructive Pulmonary Disease
Grade the breathlessness: Use the MRC dyspnoea scale:
Breathless only on strenuous exercise.
Breathless when hurrying or walking up a hill.
Slower than contemporaries on level ground due to breathlessness, or
has to stop for breath even when walking at own pace.
Stops for breath within 100 meters or a few minutes on level ground.
Too breathless to leave the house or perform limited activities like
dressing and undressing.
Baseline investigations:
Body mass index.
Full blood count: Polycythaemia, anaemia.
Spirometry (post-bronchodilator): To be done at diagnosis. Diagnosis
utilises an FEV1:FVC ratio of <0.7 with severity guided by the FEV1
into
>80%: Mild.
50-80%: Moderate.
30-50%: Severe.
<30%: Very severe.
Chest radiograph.
Management:
Non-pharmacological: Smoking cessation (+/- NRT, varenicline,
buproprion), review inhaler technique and consider using a spacer,
pneumococcal and annual influenza vaccination, pulmonary
rehabilitation (if MRC grade 3 or above), respiratory physiotherapy
(active cycle breathing), dietician (if BMI <20 or >25), occupational
therapy, social services, avoid scuba diving, education regarding use of
rescue pack (steroid if breathing interfering with ADLs, abx if sputum
purulent, increasing bronchodilators).
Medical: SABA, SAMA, LAMA, or LABA plus inhaled corticosteroids
(increased risk of non-fatal pneumonia). LAMA, or a corticosteroid +
LABA should be commenced at outset in those with FEV1<50%. Then
titrate up to LAMA plus corticosteroid + LABA. Additional measures
include nebulisers, oral steroids (with gastro and bone protection, at
lowest possible dose, usually started during an exacerbation and
continued in those who it is difficult to wean off), oral theophylline
(reduce dose during exacerbations if macrolides or quinolones are used
as antibiotics), carbocysteine (for chronic productive cough). They may
also need to be considered for LTOT (x2 ABGs, at least 3 weeks apart,
when well, with PaO2 <7.3 or PaO2 <8 with additional polycythaemia,
nocturnal hypoxaemia, peripheral oedema or pulmonary hypertension)
with O2 used for at least 15 hours a day. There is also the option of
ambulatory or short burst oxygen therapy, in addition to long term NIV.
Surgical: Bullectomy (single large bulla + FEV1<50% + breathless), lung
volume reduction surgery (FEV1>20%, upper lobe emphysema,
TLCO>20%, PaCO2<7.3), lung transplant.
Diabetes
Type 1 Diabetes
Monitoring: Aim for 4-7 pre-prandially and <9 one hour post-prandially
and an HbA1c of less than 48 (or less than 58mmol/mol if issues with
recurrent hypoglycaemia) aim for BP <130/85 or if proteinuria aim for
<130/80.
Hypoglycaemia: If someones home measuring values are higher than
you would expect given their HbA1c suspect recurrent hypoglycaemic
events as a cause of this, consider lifestyle events and patterns of hypos
(if this doesnt identify the cause consider gastroparesis, injection sites,
poorly re-suspended insulin, renal failure, ACE-i use), consider switch to
insulin glargine from isophane if night time hypos are an issue. If they
have a hypo they should have a sugary drink (or be given IM glucagon
or IV glucose) and the monitored for response at 10 mins before
repeating or given a more complex carb.
Retinopathy: Annual review, emergency referral if sudden loss of vision,
rubeosis iridis, pre-retinal or vitreous haemorrhage, or retinal
detachment.
Nephropathy: Annual first pass morning urine ACR, treat with ACE-i, get
BP<130/80.
Other complications: Most are related in part to autonomic
involvement. Phosphodiesterase 5 inhibitor for erectile dysfunction,
pro kinetic drugs for gastroparesis, unexplained nocturnal diarrhoea,
hypoglycaemic unawareness, and bladder emptying problems.
Type 2 Diabetes
General advice: Aim for 5-10% body weight loss if overweight, advise
low GI with high fibre diet.
Monitoring: HbA1c check 2-6 monthly (if not suitable use fructosamine
estimation, or total glycated haemoglobin). Aim for BP <140/80 or if
eye/kidney/cerebrovascular disease aim for <130/80 using an ACE-i (if
Afro Caribbean give with a thiazide or CCB), or if due to become
pregnant use a CCB. Calculate their QRISK2 and if >10% risk over 10
years of developing CVD they should be offered atorvastatin 20mg.
Check ACR on first pass morning urine and bloods for eGFR and Cr
annually if ACR >2.5 in men or 3.5 in women, offer ACE-i. Offer annual
retinal screening with photography.
Medications:
Metformin (biguanide): For overweight or obese in particular, but also
in those with normal BMIs first line, start low and build up slowly (if still
not tolerated due to GI effects consider modified release forms).
Review dose if Cr>130 or eGFR <45, stop metformin if Cr >150 or eGFR
<30. Can be used with insulin, if safe and tolerated continue.
Glicazide (sulfonylurea): Either as add on therapy, or used alone if
metformin not tolerated or a rapid response required due to the levels
of hyperglycaemia. Warn about risks of hypos, especially if they have
renal impairment. If glucose control still not adequate with metformin
and glicazide you can add in another agent however if they are
markedly above the target range be aware that most medications can
only achieve additional small reductions in HbA1c and as such insulin
may need to be considered. Can be used with insulin, if safe and
tolerated continue.
Sitagliptin (DPP4 inhibitor): Add in as the second agent to metformin
instead of glicazide if hypos could be very problematic (e.g: theyre a
driver for a living), or as the second agent to gliclazide if metformin not
tolerated. Only continue if decent response in HbA1c seen at 6 months.
Pioglitazone (thiazolinedione): Use in a similar way to sitagliptin but
avoid in those with heart failure or at high risk of fractures. Can be used
with insulin, only continue if decent response in HbA1c seen at 6
months.
Exenatide (GLP-1 mimetic): Given subcutaneously together with
metformin and gliclazide in those with a BMI >35 (because insulin
would cause weight gain) or with BMI <35 but where insulin would be
problematic due to hypos related to occupation or where weight loss
would be helpful for other medical co-morbidities. Only continue if
decent response in HbA1c and weight loss at 6 months.
Insulin: Either once daily at bedtime or twice daily.
Other complications: Gastroparesis is treated with metoclopramide,
domperidone or erythromycin. Neuropathic pain is managed with
amitryptilline, duloxetine, gabapentin, pregablin and capsaicin cream;
tramadol can be used acutely. Erectile dysfunction can be helped with
phosphodiesterase 5 inhibitors.
Diabetes and pregnancy
Risks: Miscarriage, pre-eclampsia, preterm labour, still birth, congenital
malformations, macrosomia, birth injury, perinatal mortality, and
neonatal hypoglycaemia; the mothers retinopathy can also progress.
Pre-conception: Good glycaemic control (HbA1c <6.1%; avoid if >10%),
avoid unplanned pregnancies, 5mg folate a day until 12 weeks
gestation, switch from any medications which arent metformin or
insulin and stop ACE-i/statins, check Cr and eGFR and refer to
nephrology if Cr>120 or eGFR<45.
Advice during pregnancy: Keep sugars between 3.5-5.9 pre-
prandially, and below 7.8 one hour post-prandially, those on insulin are
at increased risk of hypoglycaemia and hypoglycaemic unawareness
especially in the 1st trimester.
Monitoring during pregnancy: Four chamber view of heart and outflow
tracts at 18-20 weeks, USS of size and amniotic fluids 4 weekly from 28
weeks.
Gestational diabetes: Risk factors include previous GD, family history of
diabetes, family origin with known high risk (South Asian, Middle
Easter, Afro-Caribbean), previous macrosomic baby, or BMI>30 all
should be offered screening with an OGTT at 24-28 weeks, with those
with previous GD having an earlier one at 16-18 weeks too. Give 1 to 2
weeks with exercise and diet, but 10-20% fail to hit glucose targets and
require metformin or insulin. Feed baby early to avoid neonatal
hypoglycaemia. Those with gestational diabetes need a fasting glucose
check 6 weeks post-natally.
Labour: Monitor blood sugars hourly during labour (aim for 4-7).
Post-partum: Those on insulin will need to reduce the dose, those with
GD should immediately stop all medications, metformin and
glibenclamide are the only oral hypoglycaemic agents which can be
used during breast feeding.
Diabetic feet:
Examination: Neuropathy, ischaemia, ulceration, infection,
inflammation, deformity, Charcots arthropathy; in addition to looking
for systemic signs of sepsis.
Investigations: Plain film radiograph of the foot (look for Charcots; if
OM suspected but not seen on this, consider MRI or white cell scan),
MCS of debrided tissue from base of wound (alternatively, a superficial
swab), screen for MRSA, if ischaemia suspected measure an ABPI.
Management: MDT care, antibiotics as per local guidelines and
sensitivities, pressure off loading for ulcers.
Hypertension
Categorised as:
Stage 1 hypertension: Clinic blood pressure >140/90, and average
daytime ambulatory or home blood pressure monitor readings
>135/85.
Stage 2 hypertension: Clinic blood pressure >160/100, and average day
time ambulatory or home blood pressure monitor readings >150/95.
Severe hypertension: Clinic blood pressure >180/110.
And:
Primary hypertension: Idiopathic.
Secondary hypertension: As a result of:
Renal abnormalities: Reflux nephropathy, horseshoe kidney, autosomal
dominant polycystic kidney disease, glomerulonephritis.
Endocrine abnormalities: Hyperthyroidism, hyperparathyroidism,
phaeochromocytoma, Cushings disease, Conns syndrome.
Cardiovascular abnormalities: Co-arctation of the aorta, renal artery
stenosis (including fibromuscular dysplasia).
Heritable: Liddles syndrome (Conns mimic ie: hypokalemia, alkalosis,
but low renin; autosomal dominant), apparent mineralocorticoid excess
(hypokalemia, but low renin ;autosomal recessive).
Iatrogenic: OCP, steroids.
Lifestyle: High intake of salt, alcohol, or liquorice; recreational drugs use
(cocaine).
Miscellaneous: Obstructive sleep apnoea.
Tests for secondary causes can include U&Es (hypokalaemia of Conns
and Cushings, as well as Liddles and AME), TFTs (hyperthyroidism),
bone profile (hypercalcaemia) with more specialist tests guided by
clinical suspicion and including renin and aldosterone (Conns), urinary
and plasma metanephrines (phaeochromocytoma), 24hr urinary
cortisol or low dose dexamethasone suppression test (Cushings), renal
ultrasound (renal parenchymal disease), MRI + gad or CT + contrast of
renal arteries (renal artery stenosis and fibromuscular
dysplasia), echocardiogram (co-arctation of the aorta),
and polysomnography (obstructive sleep apnoea).
Measuring blood pressure: If testing for postural hypotension measure
the BP lying down and then after standing for at least one minute. A
significant drop is when the systolic BP falls by >20mmHg. When
initially measuring blood pressure, ensure they are not in AF (in which
case take the BP manually rather than automated) and take the BP in
both arms (if difference >20mmHg consider co-arctation). If BP is
>140/90 then repeat again in clinic and if persistently high then offer
ambulatory, and then home, blood pressure monitoring.
Screening for complications: Calculate their cardiovascular risk using a
suitable scoring system, record an electrocardiogram (LVH), check
U&Es, dipstick, and albumin:creatinine ratio for proteinuria
(hypertensive nephropathy), and perform fundoscopy (hypertensive
retinopathy).
Screening for co-morbidities: Check the blood glucose (diabetes) and
cholesterol (hyperlipidaemia).
Referral: Consider in the following:
Same day: Accelerated hypertension (BP>180/110 plus papilloedema or
retinal haemorrhages), suspected phaeochromocytoma (labile BP,
postural hypotension, headache, pallor, sweating).
Routine: Features suggestive of a secondary cause of hypertension,
BP>140/90 despite triple therapy (ACEi/ARB + CCB +thiazide).
Management:
Non-pharmacological: Healthy diet, exercise, weight loss, relaxation
therapies, reduce alcohol intake, avoid excessive caffeine, reduce
intake of sodium salt, advise smoking cessation, signpost local group
initiatives that the patient may benefit from, arrange annual review.
Medical: Offer tablets to those with stage 2 hypertension, or stage 1
hypertension that has failed non-pharmacological interventions or
which is accompanied by other cardiovascular risk factors. Targets are
<140/90 if under 80, and <150/90 if over 80. The preferred 1st line
options are:
<55yo: ACE-I.
>55yo or Afro-Caribbean: CCB.
>55yo and heart failure: Thiazide (chlortalidone or indapamide).
Child bearing potential: Beta blocker.
Terminology of hypertension in pregnancy:
Chronic hypertension: Present before 20 weeks gestation.
Gestational hypertension: Develops after 20 weeks gestation.
Pre-eclampsia: Hypertension after 20 weeks gestation with significant
proteinuria. Symptoms include headache, blurring or flashing of the
vision, severe pain below the ribs, vomiting and sudden swelling of the
hands and feet. Prevention includes 75mg aspirin daily from 12 weeks
until birth if high risk (hypertensive, CKD, SLE, APS, diabetes).
Eclampsia: Pre-eclampsia plus convulsions.
HELLP syndrome: Haemolysis, elevated liver enzymes and low platelets.
Treatment of hypertension in pregnancy:
Medications to stop: ACEi, ARB, chlorthiazide.
Medications to start: If BP >150/100 labetalol, methyldopa (stop
within 2 days of birth), nifedipine; if convulsing or felt to be at risk use
magnesium sulphate.
Urgent admission: Blood pressure >160/110.
Monitoring: May require additional fetal monitoring (e.g.: USS and
doppler umbilical artery at 34 weeks).
Breastfeeding: Labetalol, nifedipine and some beta blockers and ACEi
can be used safely.
Obesity
History: Explore any underlying causes of obesity (congenital, or
acquired endocrine disorders or hypothalamic lesions), their diet,
mood, barriers to lifestyle changes, past medical history and
medications, other issues like employment, smoking and alcohol intake.
Measuring: Monitor BMI (kg/m2) and waist circumference, and when
discussing with the patient feedback their category whilst adding in
relevant information from their other co-morbidities.
Overweight: BMI 25-30.
Obesity I: BMI 30-35.
Obesity II: BMI 35-40. Consider medications.
Obesity III: BMI >40. Consider medications and surgery.
Advice: Regarding diet (with a dietician referral if needed) and exercise
(30 mins of moderate intensity 5 days a week, all in one, or as 10
minute bursts), and remember to highlight that the above terms such
as obesity are medical terms and measurements related to health
risks, and are not specifically a comment on their appearance and how
they look. Encourage others close to the patient, such as
spouse/parents/friends, to also engage in making positive lifestyle
changes. Key things to explore before they embark on weight loss
regimens:
Why did they give up or put weight back on again before? Use these as
positive learning experiences to improve the chances of success this
time.
Encourage them to set a goal with regards to the timeframe, the
amount of weight loss, to participate in a particular sporting event etc.
Consider whether they would benefit from additional psychological
support either through patient led support groups, or from formal
cognitive behavioural therapy.
Orlistat: Can be considered in patients with a BMI>28 and other risk
factors, or in those with a BMI >30. Only continue after 3 months if they
have lost more than 5% of their body weight. At 12 months, re-asses
the ongoing need for the medications and discuss the pros and cons
with the patient themselves. Consider the co-prescription of a
multivitamin tablet for the patient to take at night whilst on orlistat.
Mechanism: Impairs the absorption of fat in the gut taken as one
tablet before each meal it will reduce fat absorption by a third. Not
universally effective by any means and should be viewed as one part of
the plan to lose weight.
Benefits: Assists with weight gain.
Side-effects: Steatorrhoea (fatty, smelly, loose stools).
Complications: Deficiencies of fat soluble vitamins (A, D, E, K) and
failure of oral contraceptive pill.
Surgery: Considered early in those with BMIs >50 or with a BMI>35 and
new onset diabetes.
Theory: To reduce how much a patient can eat before they feel full
and/or impair the bodys ability to absorb the food that is eaten.
Techniques:
Gastric banding: Band placed around the stomach which divides it in
two and thus only allows a little food to be eaten at once before it
passes into the lower section for normal digestion. A port beneath the
skin of the abdomen allows the band to be tightened at a later date.
Gastric bypass: Stomach surgically divided in two with the smaller
upper part anastomosed onto the jejunum and the main portion
avoided thereby reducing the amount that can be eaten and reducing
absorption.
Gastric sleeve: Large part of stomach removed and then sown back up
again so it resembles tube rather than a large pocket.
Benefits: Weight loss.
Risks: During the operation itself they are at risk of complications,
including death, related to anaesthesia and intubation, particularly in
the presence of other co-morbidities. Post-operatively their weight and
the surgery itself puts them at higher risk than normal for pulmonary
emboli, deep vein thromboses, and pneumonia.
Osteoporosis
Definition:
Osteoporosis: Bone mineral density at the hip > -2.5 standard
deviations below the mean average of a young adult matched for
gender and ethnicity.
Risk factors to identify in the history: Some of these will be utilised
within the FRAX score which estimates the 10 year fracture risk (either
with or without prior BMD measurement).
Early menopause, lack of HRT use.
Steroid excess, either exogenous or endogenous.
Other hormonal dysregulation such as hyperthyroidism.
Female gender, previous fragility factors (wrist, spine, hip), BMI <18.5.
Family history.
Smoker, alcohol excess.
Inflammatory condition like rheumatoid arthritis.
Frequent falls.
Secondary causes of osteoporosis:
Endocrine: Hypogonadism, hyperthyroidism, hyperprolactinaemia,
Cushings, diabetes.
Gastrointestinal: Coeliac disease, inflammatory bowel disease, chronic
liver disease, chronic pancreatitis, malabsorption.
Rheumatological: Rheumatoid arthritis.
Haematological: Multiple myeloma, haemoglobinopathy.
Respiratory: Cystic fibrosis, COPD.
Chronic renal disease.
Immobility.
Investigations:
Bedside tests: BMI (low BMI associated with increased risk).
Bloods: Bone profile (check calcium and ALP), vitamin D (rule out
deficiency), FBC (anaemia), ESR, immunoglobulins, para protein and BJP
(multiple myeloma), LFTs (derangement in malignancy), U&Es (renal
failure), and in men check testosterone and gonadotrophins.
Imaging: Dual energy X-ray absorbiometry (DEXA; to diagnose).
Management: Remember that your target aim is to reduce fracture so
your management should aim to increase bone mineral density and
reduce falls risk.
Non-pharmacological: Educate about the diagnosis and supplement
with written information, stop smoking, reduce alcohol intake, wean
down or stop causative medications like steroids, regular exercise such
as swimming and walking, utilise an MDT approach to tackle falls risk
factors (reduce polypharmacy, physiotherapy, occupational therapy,
social services assessment, optician review, hearing aid assessment),
offer hip protectors.
Medical: Ensure calcium and vitamin D replete, bisphosphonates (eg:
alendronate), denosumab (monoclonal antibody that acts as a RANKL
inhibitor and thereby reduces osteoclast activity given subcutaneously
every 6 months), strontium ranelate (looks a bit like calcium so taken
up into bones etc), raloxifene (secondary prevention only, if
bisphosphonate not tolerated or contraindicated; selective oestrogen
receptor modulator, reduces breast cancer risk but increases VTE risk),
teriparatide (parathyroid hormone peptides).
Surgical: Repair of fractures.

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Abdominal

The General Examination:

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