Updated: 2/24/2020

Gilbert Syndrome

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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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