Gastroenterology

Answer 1 Gilbert’s syndrome. Gilbert’s syndrome is a classic inherited disorder of bilirubin metabolism that presents with an unconjugated hyperbilirubinemia. A mutation in the gene that codes for the uridinediphosphoglucuronate glucuronosyltransferases (UGTs; enzymes that moderate glucuronidation of various compounds including bilirubin) leads to decreased production of bilirubin-UGT, which in turn causes decreased excretion of conjugated bilirubin. In patients with Gilbert’s syndrome, elevated serum bilirubin is typically caused by physical stressors, such as dehydration, febrile illnesses, periods of fasting, extreme physical exertion, and the ingestion of certain drugs. Gilbert’s syndrome is a benign condition that is not associated with progressive jaundice or liver disease. Acute viral hepatitis, PBC, PSC, and transient biliary obstruction would not present with an isolated elevation of serum bilirubin without other abnormal liver function tests. Click here to return to the questions

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