A 39-year-old female patient presents with a history of recurrent pruritus accompanied by elevations in bilirubin, alkaline phosphatase, and bile acids. During pregnancy 3 years ago, she also experienced worsening pruritus and cholestatic liver enzyme elevation. Workup excluded autoimmune cholestatic disease, and MRCP showed no abnormalities of the biliary tree. There is no history of medication or over-the-counter drug use associated with this pattern of liver injury. Genetic testing ultimately confirmed PFIC type 2 with a missense mutation (p.D482G).

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