A 55-year-old woman presents to the emergency department with a 2-month history of fatigue, jaundice, and dark urine. Her medical history includes hypothyroidism which is managed with levothyroxine. She denies alcohol use, recent travel, or new medications. Blood pressure is 115/70 mmHg, and heart rate is 65 beats/minute. Physical examination reveals scleral icterus, hepatomegaly, and no ascites. Laboratory studies show total bilirubin of 6.2 mg/dL (0.1–1.0 mg/dL), direct bilirubin of 4.8 mg/dL, aspartate aminotransferase of 120 U/L (< 48 U/L), alanine aminotransferase of 150 U/L (< 55 U/L), and alkaline phosphatase of 320 U/L (20–120 U/L). Antimitochondrial antibody is positive. A liver biopsy reveals lymphocytic infiltration of bile ducts with granulomatous destruction and ductopenia.
D) Primary biliary cholangitis
This patient’s presentation of fatigue, jaundice, dark urine, hepatomegaly, elevated bilirubin/alkaline phosphatase, and liver biopsy showing lymphocytic infiltration with granulomatous bile duct destruction and ductopenia is characteristic of primary biliary cholangitis. Primary biliary cholangitis is a chronic autoimmune disease affecting small intrahepatic bile ducts, common in middle-aged women (most often diagnosed between 30 and 60 years of age), often associated with positive antimitochondrial antibodies. Ursodeoxycholic acid is the first-line treatment to slow disease progression.
Answer choice A: Alcoholic hepatitis, is incorrect. Alcoholic hepatitis is associated with heavy alcohol use, an elevated AST>ALT (2:1 ratio), and Mallory bodies and steatosis on biopsy. Bile duct destruction and ductopenia are inconsistent with this diagnosis.
Answer choice B: Autoimmune hepatitis, is incorrect. Autoimmune hepatitis presents with elevated transaminases (AST/ALT >1000 U/L), positive antinuclear or anti-smooth muscle antibodies, and interface hepatitis on biopsy, not ductopenia or granulomatous changes.
Answer choice C: Hepatocellular carcinoma, is incorrect. Hepatocellular carcinoma presents with a liver mass, elevated alpha-fetoprotein, and risk factors like cirrhosis or hepatitis B or C. Biopsy shows malignant hepatocytes, not bile duct pathology.
Answer choice D: Primary sclerosing cholangitis, is incorrect. Primary sclerosing cholangitis causes bile duct strictures and dilation ("beading") on imaging, often associated with inflammatory bowel disease, primarily in men. Antimitochondrial antibodies are negative, and biopsy shows fibrous obliteration, not granulomatous destruction.
Key Learning Point
Primary biliary cholangitis is an autoimmune disease of small bile ducts, presenting with jaundice and elevated alkaline phosphatase. Positive antimitochondrial antibodies and granulomatous duct destruction on biopsy are key diagnostic points.
