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Updated: Feb 24 2020

Gilbert Syndrome

  • Snapshot
    • A 24-year-old medical student is 2 weeks into her first surgery rotation when her senior resident tells her that her eyes look a little yellow. She experienced her first needle stick injury in the operating room just 1 week earlier and began to worry about hepatitis. Other than rarely having the time to eat at work, she has no other complaints or symptoms.
  • Introduction
    • Hereditary unconjugated hyperbilirubinemia due to
      • defect in promotor gene for uridine diphosphoglucuronate-glucuronsyltransferase 1A1 (UGT1A1)
        • conjugates bilirubin with glucuronic acid
      • mild ↓ UDP-glucuronyl transferase activity
      • mild ↓ bilirubin uptake
    • Autosomal recessive inheritance
      • very common in population
  • Presentation
    • Symptoms
      • largely asymptomatic
      • occasional reccurent mild jaundice associated with fasting, stress, and EtOH intake
  • Studies
    • Normal laboratory tests including hepatic function
    • Isolated unconjugated hyperbilirubinemia
      • serum bilirubin concentration is usually < 3 mg/dL
    • Rifampin test can be used to diagnose Gilbert
      • unconjugated bilirubin rises after a dose of rifampin (induces cytochrome P-450 and competes for excretory pathways in the liver)
      • less specific to Gilbert as levels can rise in those with chronic liver disease (and not Gilbert)
  • Treatment
    • Benign condition
    • No treatment required
  • Complications
    • Associated with increased risk of cholelithiasis
    • Increased severity and duration of neonatal jaundice
    • Drug-interaction and increased susceptibility to toxic effects with irinotecan
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