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December 9, 2019

Image challenge: weight loss and granulomatous liver disease

What caused right upper quadrant abdominal pain and 40-pound weight loss in a patient that never had any abdominal surgeries but was notable for a grandfather with pancreatic cancer?
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Gastroenterology clinical image challenge: A 33-year-old African-American woman without significant past medical history presented with three months’ of progressively worsening right upper quadrant abdominal pain. The pain was sharp, 10/10 severity, worsened during eating and lasted less than to about three hours before resolving on its own. She also reported a 35- to 40-pound weight loss over the same period, which she attributed to low appetite in the setting of pain. The patient noted having nausea, but denied having vomiting, fevers, chills, sweats, constipation, diarrhea, hematochezia, melena or steatorrhea. She did not complain of chest discomfort, dyspnea, cough, sick contacts, recent travel or dysphagia. Her family history was notable for a grandfather with pancreatic cancer. She had never had any abdominal surgeries or endoscopic evaluation.

The physical examination was notable for moderate tenderness to palpation in the epigastrium and right upper quadrant. Her liver was palpable 4 cm below the costal margin. Laboratory findings were significant for hemoglobin 12.5 g/dL with a mean corpuscular volume of 79, aspartate aminotransferase of 60, alanine aminotransferase of 69, alkaline phosphatase of 629 and gamma glutamyl transferase of 773. Her viral hepatitis workup confirmed immunity to hepatitis A and B viruses; the hepatitis C virus antibody was nonreactive. Chromogranin A, carcinoembryonic antigen, CA-19-9, CA-125 and alpha fetoprotein levels were within normal limits. The autoimmune hepatitis workup showed mildly elevated anti–smooth muscle antibody to 1:40. The QuantiFERON Gold, human immunodeficiency virus and rheumatologic workup were all negative. Her angiotensin converting enzyme (ACE) was elevated at 261 IU/L.

A computed tomography scan with intravenous contrast showed diffuse cyst-like lesions throughout the liver and spleen with periportal lymphadenopathy, all concerning for malignancy (figure). The chest radiograph showed no focal consolidation or hilar lymphadenopathy. Our abdominal ultrasound examination showed hepatomegaly to 16.1 cm, splenomegaly to 13.1 cm and periportal and peripancreatic lymphadenopathy. Upper endoscopy and colonoscopy were grossly unremarkable, though we took random gastric biopsies. Her pain gradually self-resolved and she was able to tolerate full meals after endoscopy. A computed tomography-guided liver biopsy showed confluent, noncaseating epithelioid granulomas in the portal areas and liver parenchyma. There were occasional giant cells with reactive fibrosis and mild interface hepatitis. Biliary destruction with lymphocytic cholangitis was visualized

What is the diagnosis?

To find out the diagnosis, read the full case in Gastroenterology.

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