A 48-year-old female presents with progressive fatigue, jaundice, and pruritus. Laboratory investigation reveals total bilirubin 3.8 mg/dL, alkaline phosphatase 540 IU/L (elevated), and AST/ALT only mildly elevated. Anti-mitochondrial antibodies (AMA) are strongly positive at high titers. What is the definitive diagnosis?

Answer and explanation

Correct answer: B. Primary biliary cholangitis

  1. Step 1: Evaluate laboratory markers: Cholestatic pattern (high alkaline phosphatase), pruritus, middle-aged female, and high-titer anti-mitochondrial antibodies (AMA > 1:40) are hallmark features.
  2. Step 2: This establishes the diagnosis of Primary Biliary Cholangitis (PBC, formerly primary biliary cirrhosis).
Answer
Primary biliary cholangitis.
Why not the others: 'Primary sclerosing cholangitis' is strongly associated with ulcerative colitis and p-ANCA antibodies, showing beading on MRCP; 'Autoimmune hepatitis' is characterized by positive anti-smooth muscle antibodies (ASMA) and hypergammaglobulinemia; 'Alcoholic hepatitis' features an AST:ALT ratio > 2.

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