28.

CONNECTIVE TISSUE DISEASE

APPROACH
Common clinical presentations
SKIN RASHES SKIN ABNORMALITIES
Livido reticularis [SLE, ssociated with Sclerodactyly
PAN]: purple marbling of skin Thickening and tightening of skin
Photosensitive rash: shawl Associated with systemic sclerosis/
distribution scleroderma and CREST syndrome
Malar rash Discoid rash
Eryhthema nodosum Oral ulcer
Erythema multiforme: macular or Photosensitive
papular, red, discrete or indiscrete Arthritis
(multi forms!) Malar rash
Pyoderma gangrenosum Immunologic: anti-Sm-antidsDNA,
Discoid lupus: red rounded plaquey anti-Ro, Anti-LA
scaly rash on forehead and scalp (> Neuorologic changes
common in black females) ESR
***Lupus pernio: large big red rash
on nose (associated with sarcoid, not Renal dzs
CTDs) ANA +ve
Heliotrophic rash: red purple eyelids, Serositis: pleuritis
associated with polymyositis and Haematologic disease: haemolytic
dermatomyositis anaemia, TP, LP
Gottrons papules: red papules over
Psoriasis
JOINTS Clinical presentations
Arthralgia: painful joints without underlying arthritis
Arthritis

Distinguishing features characteristic of CTD (RA etc) arthritis VS degenerative

arthritis (OA)
o Morning o Persistent
stiffness o >6/52
o Symmetric o Rheumatoid factor
al positive
o Bilateral o Characteristic Xray
o Small features
joints
MUSCLES Diseases Clinical
Dermatomyositis presentations Proximal muscles myopathy
Polymyositis Myalgia Waddling gait
Myopathy
Muscle wasting
CARDIAC Diseases Clinical presentations
Myocarditis Chest pain
Pericarditis Palpitations
Aseptic endocarditis Dyspnoea
o Libman-sack endocarditis if coexists with SLE
EYES Clinical presentations
Scleritis: painful Keratoconjuctiva sicca: dry eyes
Episcleritis: non-painful Scleromalacia: thin sclera
Iritis/ uveitis: painful red Scleromalacia perforans: thin sclera has now
eye perforated
 Keratoconjuctivitis: keratin- Sicca complex: systemic illness
filled, decreased acuity Sjogrens syndrome: drying and fibrosis of
Conjuctivitis glands VS xeropthalmia, xerostomia
syndrome
LUNGS Diseases Clinical presentations
IPF Pulmonary nodules Dry cough and
o Systemic sclerosis o RA dyspnoea with
o Died from RA Pulmonary vasculitis exertion
Pleuritic inflammation o PE, haemoptysis
KIDNEY Diseases
Lupus nephritis
o SLE
Systemic sclerosis
NEUROLOGICAL SLE GCA
Vasospastic migraine, seizures (if + Headache, jaw claudication,
panvasculitis) scalp tenderness
In pregnant women Preceeding proximal
o Child with conduction abnormality myopathy due to
o Anti-Ro and Anti-La antibody polymyalgia rheumatica
HAEMATOLOGICAL Hg, pL, WCC abnormalities
Examples of CTDs
SLE
o Fever + skin, muscle and joint features
Dermatomyositis
o Associated with underlying malignancy do CT thorax and mammogram
Systemic sclerosis
CREST syndrome
o Calcinosis, Raynauds; phenomena, oesophageal dysmotility, sclerodactyly, tealangiectasia

INVESTIGATIONS
DIAGNOSTIC IMAGING OTHERS
FBC Arthroscopy Muscle biopsy:
o Anaemia, leukopaenia (lupus), leukocytosis Joint Xray dermatomyositi
(inflammation), pancytopaenia (1 disease effect
o o Loss of joint s
or 2o due to meds) space EEG: seizures
o Low C3, C4 (flare of illness- diagnostic and to o Periarticular MSU
monitor disease progression uptitrate steroids osteopaenia U&E and eGFR:
when high) o Chondrocalcinosi renal disease
Auto-antibodies s PFTs
o Rheumatoid fact, anti-CCP (RA) o Sclerosing cysts Opthalmology
o Anti-dsNA: lupus CT brain
o Anti-histone: drug-induced lupus CXR
o Anti-smith: primary lupus ECHO
o Anti SCL, anticentromere: systemic sclerosis
o Anti Jo-1 & anti Mi-2: dermatomyositis
o Anti-Ro & anti-La: Sjogrens
Genetic
o HLAs

MX
RA LUPUS SYSTEMIC SCLEROSIS DERMATOMYOS GCA
ITIS
Pain relief Steroids Steroids & Physio High dose
DMARDs o Cyclo- immunomodulators Steroids IV steroids
 Physios phosphamid Raynauds: warm cloths & Immuno- taper
Biological e gloves modulators afterwards
agents o sulfasalazine Erythromycin: promote
Joint esophageal motility
replacement B12 & folate supplements

PROGNOSIS
Disease activity scale (DAS-28)
o >5: poor prognosis

CASES
1.A 20 year old female presents to the Rheumatology clinic complaining of a 4 month history of pain
and stiffness in the MCPs and wrists. The symptoms are worse in the morning lasting for 1 hour and
improve with movement. There is fatigue but no other problems identified on review of systems. On
exam the wrists are slightly swollen and tender and MCPs are tender but not swollen. ESR is 48. The
rheumatoid factor (RF) is positive at 105 and the anti-cyclic citrullinated peptide (anti-CCP or ACPA)
is >250. X-rays show peri-articular osteopenia but no erosions.

2.An active 73 year old male presents to the Rheumatology clinic complaining of myalgias, stiffness,
wrist and ankle pain and swelling, fatigue and weight loss. His ESR is 60 and CRP is 9.1. Patient did
very well on 20mg/day of prednisone and this was tapered slowly beginning 3 months after control of
his symptoms.
However, symptoms recur, although the ESR and CRP remain normal. The patient was treated with
increased doses of prednisone and then one month after control of symptoms his dose was re-tapered
to < 3 mg/day for 6 months before stopping, approximately 30 months after original diagnosis of PMR.
The patient did well for 3 months and then presented with difficulty in chewing food and fleeting pain
in upper extremities. There were no other symptoms and the ESR and CRP remained normal on no
medications.
3.A 54-year-old male presents to his GP complaining of severe pain in his left wrist and right great
toe. The affected joints are swollen, erythematous and exquisitely painful. He denies injury to these
areas as well as fever. The patient is afebrile with a temperature of 37.2, all vital signs are within
normal limits. The patient has a history of hypertension and hyperlipidemia. He has been steadily
gaining weight over the past few years and is now about 20 kg overweight. He states that he drinks
four to five beers each night.

On exam, you find that the patients wrist and first MTP joint are erythematous and very tender to
even light touch. The patient has limited range of motion of these joints related to pain. Sensation and
capillary refill are intact. Lab values show a WBC of 5,400 (Normal 4,300-10,800) and a Uric Acid level
of 9.7 (Normal >7.0).