Snap Shot
  • A 24-year-old third-year medical student is two 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 one week earlier and begins to worry about hepatitis. Other than rarely having the time to eat at work, she has no other complaints or symptoms. 
  • 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
  • AD or AR inheritance
    • very common in population
  • Symptoms
    • largely asymptomatic
    • occasional reccurent mild jaundice associated with fasting, stress, EtOH intake
  • Diagnosis is readily made with isolated unconjugated hyperbilirubinemia without evidence of hepatitis or hemolysis
  • Genetic testing available
  • Fasting test
    • uncojungated bilirubin will rise after a day of fasting with low lipid, 400kcal diet
    • more specific to Gilbert's
  • Rifampin test can be used to diagnose Gilbert's 
    • unconjugated bilirubin rises after a dose of rifampin (induces cytochrome P-450 and competes for excretory pathways in the liver)
    • less specific to Gilbert's as levels can rise in those with chronic liver disease (and not Gilbert's)
  • Medical management
    • no treatment needed
Prognosis, Prevention, and Complications
  • No clinical consequences
  • Avoid certain medications (irinotecan)

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