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)
- 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