Case Challenge

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The case description for an upcoming Case Records of the Massachusetts General Hospital
appears below. Cast your vote on the diagnosis and submit a comment about what diagnostic
tests will prove useful. The correct diagnosis, along with the full description of the case and the
procedures performed, will be published in the September 25, 2014, issue of the Journal.

A 29-year-old man was seen in the walk-in clinic because of diarrhea of 1 years duration and
weight loss. Initial laboratory values included elevated hepatic aminotransferase levels and a
ferritin level of 1716 ng per milliliter. A diagnostic procedure was performed.
Participate in the poll and share your comments. The complete Case publishes September 25.
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A 29-Year-Old Man with Diarrhea, Nausea,

and Weight Loss
Comments and Poll open through September 23, 2014

Presentation of Case
Dr. Daniel L. Motola (Gastroenterology): A 29-year-old man was seen in the walk-in clinic at
this hospital because of diarrhea and weight loss.
The patient had been well until 1 year before the current presentation, when diarrhea with loose,
unformed stools developed; the diarrhea occurred up to six times per day and was associated
with urgency and mild abdominal discomfort. During the 4 months before this presentation,
unintentional weight loss of approximately 10 kg occurred and increasing fatigue developed. He
had had no fevers, and the symptoms did not worsen after he ate dairy or wheat products. He had
a history of asthma and had had excision of a congenital nevus and inguinal herniorrhaphy in the
past. He took no medications and was allergic to penicillin. He was of Italian and Chinese
ancestry. He had no known exposure to sexually transmitted diseases or hepatitis. He was single
and worked in a retail store. His late grandfather had had hypertension, and his late father had
had diabetes mellitus, thyroid disease, nephrolithiasis, rheumatoid arthritis, asthma, and
hypertension; his brother and half siblings were healthy.

Table 1. Laboratory Data.*

On examination, the blood pressure was 147/102 mm Hg, the pulse 80 beats per minute, and the
temperature 36.8C. The remainder of the examination was normal. The hematocrit, hemoglobin
level, platelet count, erythrocyte sedimentation rate, and results of renal-function tests were
normal, as were blood levels of vitamin B , folic acid, electrolytes, calcium, magnesium,
glucose, glycated hemoglobin, total protein, albumin, globulin, and free thyroxine (T ); other test
results are shown in Table 1. Testing for the human immunodeficiency virus antibody and p24
antigen was negative, as was serologic testing for celiac disease.
12

After the test results were received, the patient was called and was asked to return to the
outpatient clinic the next day. On examination, the blood pressure was 156/91 mm Hg, the pulse
was 80 beats per minute, and the temperature was normal. The remainder of the examination was
unchanged. Testing for hepatitis B virus (HBV) surface antibody was positive, and testing for
HBV surface antigen, core antibody, e antigen, and e antibody was negative, as was testing for
hepatitis C virus (HCV) antibody. Other test results are shown in Table 1. Examination of the
stool for ova and parasites was negative, and stool cultures showed normal enteric flora and no
enteric pathogens. An appointment in the gastroenterology clinic was scheduled. Three days after
his first presentation, the patient noted increasing nausea and returned to the outpatient clinic.
Dr. Dushyant V. Sahani: During that visit, color Doppler ultrasonography of the abdomen
revealed mild splenic enlargement, with the spleen measuring 14.3 cm in length (normal length,
12 cm). The liver was normal in size and echotexture. The liver vasculature (including the
portal vein, hepatic veins, and vena cava) was patent and had a normal flow pattern (Fig. 1).
There was no free fluid in the abdomen.

Figure 1. Abdominal Ultrasound Image.

An image obtained during a color Doppler ultrasound examination of the abdomen shows normal liver echotexture
and a patent portal vein.

Dr. Motola: On follow-up evaluation in the gastroenterology clinic, 3 weeks after the patients
initial presentation, he reported recent early satiety and reddish stools (with no frank blood).
He reported dry skin but no pruritus, fevers, rash, oral ulcers, joint pains, or skin lesions other
than multiple nevi. He had traveled to an island off the coast of New England 10 months earlier
but did not recall having any tick bites. There was no family history of liver disease or
inflammatory bowel disease.
On examination, the vital signs were normal. The weight was 85.3 kg, the height 190.5 cm, and
the body-mass index (BMI, the weight in kilograms divided by the square of the height in
meters) 23.5. The remainder of the examination was normal. Testing for mutations associated
with hereditary hemochromatosis (H63D and C282Y) was negative. Three weeks later,
esophagogastroduodenoscopy revealed grade I varices in the lower third of the esophagus; the
results were otherwise normal. Colonoscopic examination revealed normal mucosa. Random
biopsies of the stomach, small bowel, and colon were performed, after which more bleeding
occurred than expected. Pathological examination of the biopsy specimens revealed normal
mucosa. Additional laboratory test results are shown in Table 1.
What is the most likely diagnosis? Cast your vote. What diagnostic tests will prove useful?
Submit a comment about this case and about how the diagnosis will be made.
What diagnostic test would you order?

87 Reader's Comments
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Data by Profession and Location

SUBHENDU BISWAS | Physician - INTERNAL MEDICINE | Disclosure: None
India
September 12, 2014

hemochromatosis
it might be case of hemochromatosis causing hepatitis with chronic pancreatic exo-crine
insufficiency causing chronic diarrhea..24hrs fecal fat estimation and d-xylose test might
help
RAKESH ASWANI, MD | Resident - INTERNAL MEDICINE | Disclosure: None
MANGALORE India
September 12, 2014

hereditary hemochromatosis
Possibility of hereditary hemochromatosis is high since ferritin levels are
high.autoimmune hepatitis is common in females and in elderly age group.primary biliary
cirrhosis again common in females and pruritus is important symptoms.wilson disease
can be thouht off but indirect hyperbilirubinemia, anemia is a hint to it.diagnostic test
would be liver biopsy

STEFANIA LORENZINI, MD/PHD | Physician - EMERGENCY MEDICINE |

Disclosure: None
CASTENASO Italy
September 12, 2014

Autoimmune hepatitis possibly associated with coeliac disease

I just feel strange the patient having signs of portal hypertension, and also diarrhea is not
very typical of autoimmune hepatitis. I would for sure check for antitransglutaminase
antibodies to rule out coeliac disease with can be associated with autoimmune hepatitis
and cirrhosis. Liver biopsy is the exam I'll perform next.
ESKANDAR HAJIANI, MD | Physician - GASTROENTEROLOGY | Disclosure: None
AHVAZ Iran, Islamic Republic of
September 12, 2014

Autoimmune Hepatitis and celiac Disease

In my opinion AIH and related immune disorder such as celiac dis shoud be considered
and a liver biopsy and serologic tests as well as intestinal biopsy are mandatory.I would
suggest more evaluation for Crohns Disease as well.
HABIBULLAH FUAD, MBBS | Physician - CRITICAL CARE MED (INT MED) |
Disclosure: None
Dhaka Bangladesh
September 12, 2014

provisional diagnosis
Abdomimal TB
ALI AHMARI, MD/PHD | Physician - HEMATOLOGY (INTERNAL MEDICINE) |
Disclosure: None
RIYADH Saudi Arabia
September 12, 2014

HH

High ferritin, high iron sat more or less going with HH as most likely diagnosis, we need
MRI imaging and HFE mutation and liver Bx for definitive diagnosis and fibrosis
staging.
hari n. | Physician - Internal Medicine | Disclosure: None
India
September 12, 2014

diagnosis
autoimmune hepatitis
HAMEED HUSSAIN, MD | Physician - GASTROENTEROLOGY | Disclosure: None
India
September 12, 2014

0verlap syndrome.proceed with liver biopsy

overlap syndrome .proceed with liver biopsy
DR PAOLO CARRARO, MD | Physician - HEMATOLOGY (PATHOLOGY) |
Disclosure: None
PADOVA Italy
September 12, 2014

Why not a Mediterranean Lymphoma or Budd-Chiari Syndrome?

Autoimmune hapatitis have high probability. I think we have to exlude also
Mediterranean Lymphoma and Budd-Chiari Syndrome. So, anti LKM, LAC, D-dimer,
TC. Liver biopsy presents some risks. Only if the clinical picture is unclear.
CESARE SARRECCHIA | Physician - INFECTIOUS DISEASE | Disclosure: None
ROMA Italy
September 12, 2014

Probably HH
Liver MRI and liver biopsy

NAIL BAMBUL, MD | Physician - INTERNAL MEDICINE | Disclosure: None

ISTANBUL Turkey
September 12, 2014

lymphoma
unintentional weight loss of apprroximately 10 kg is red flag .liver biopsy
Aldo Costa | Student | Disclosure: None
Ecuador
September 11, 2014

Meets biopsy criteria

Biopsia ! Dx: Hemocromatosis
muhammad akram | Resident - Gastroenterology | Disclosure: None
Pakistan
September 11, 2014

AIH
This patient needs liver biopsy to rule out AIH
JUDY JORDAN, MD | Physician - INTERNAL MEDICINE | Disclosure: None
KILAUEA HI
September 11, 2014

Liver biopsy
Light chain amyloidosis likely.
MARIO MC LOUGHLIN, MD | Physician - RADIOLOGY | Disclosure: None
Argentina
September 11, 2014

MRI
I would ask a MRI hepatic examination to evaluate the liver iron concentration
PASQUALE PARIBELLO | Student | Disclosure: None
QUARTU S. ELENA Italy
September 11, 2014

Autoimmune hepatitis
Ceruloplasmin Alfa1 antitrypsin Liver biopsy I would evaluate ceruloplasmin level as a
screening test for wilson and alfa1 antitrypsin phenotype. The biopsy would definitly give
us an extra edge in identifying the culprit :P. Autoimmune hepatitis is the best candidate
in this setting.
Mohd Hanizam Jaafar | Physician - Gastroenterology | Disclosure: None
Malaysia
September 11, 2014

grave's disease associated with with autoimmune hepatitis

Test for thyroid function test and liver biopsy
TULIO CIMERILLI, MD | Physician - ONCOLOGY | Disclosure: None
GENERAL ROCA Argentina
September 11, 2014

Acquired copper toxicity

Hello. To make it short, think that long lasting, acquired copper toxicity could explain
most of this patient's History & findings, as descripted, better than the other proposed
diseases.
ASHRAF ALI, MD | Physician - INTERNAL MEDICINE | Disclosure: None
Egypt
September 11, 2014

autoimmune hepatitis

based on ANA liver enzymes and decreased synthetic function of liver with acute phase
reactant; ferritin he was subject to HBV vaccination
Dr.Tarek MA Badwi, MD | Physician - Internal Medicine | Disclosure: None
Cairo Egypt
September 11, 2014

Colon Biopsy
Colon biopsy is important in endoscopically normal microscopic colitis.
ASHRAF ALLAM, MD | Physician - INTERNAL MEDICINE | Disclosure: None
HAQL Saudi Arabia
September 11, 2014

Workup of Chronic Diarrhea

1-Chronic pancreatitis should be excluded by assessment of fecal elastase level 2Vasculitis should be ruled out by ANCA profile and serum cryoglobulin 3-Laxative abuse
should also be investigated 4- Addison's disease needs to be ruled out by S. K and Na as
well as ACTH and S. Cortisol level 5- C.difficile infection should also be excluded by
toxin assay in stools
SILVIA ALICIA BOTTA, MD | Physician - ENDOCRINOLOGY DIABETES METAB |
Disclosure: None
CAPITAL FEDERAL Argentina
September 11, 2014

HHemochromatosis
I think also subclinical adrenal and testicular compromise accounting for weaknes,
diarrea, abdominal discomfort, TSH midly elevated,
ANDERSON BALTAR, MD | Physician - INTERNAL MEDICINE | Disclosure: None
R DE JANEIRO RJ Brazil
September 11, 2014

Autoimune hepatitis

I would ask for ceruloplasmin and urinary copper to rule out Wilson's disease but
autoimune hepatitis fits best. Anderson Baltar.
RICARDO LEMOS, MD | Physician - INFECTIOUS DISEASE | Disclosure: None
BRYAN TX
September 11, 2014

hypergammaglobulinemia
Polyclonal hypergammaglobulinemia associated with evidence of chronic liver disease
with hepatitis. Autoimmune hematitis the most likely scenario. Liver biopsy
sumerah Jabeen | Resident - Internal Medicine | Disclosure: None
Pakistan
September 11, 2014

schistosomiasis
Pts chronic diarrhoea, varices, spleenomegaly, eosinophilia, and a visit to coastal area all
favor schistosomiasis., though stool for ova is negative but it could be because ova are
being excreted intermittently. Antibody test could help further in evaluating this
differential.