Overview
Definition
A benign, hereditary hyperbilirubinemia characterized by intermittent mild unconjugated jaundice, triggered by stress, fasting, or illness.
Epidemiology
Very common, affecting 5-10% of the population. More commonly diagnosed in males.
Etiology & Risk Factors
- Autosomal recessive genetic mutation in the UGT1A1 promoter region, causing reduced bilirubin uridine diphosphate glucuronosyltransferase activity (~30% of normal)
Clinical Symptoms
- Intermittent mild jaundice (scleral icterus) during periods of fasting, dehydration, stress, exercise, or illness
- Often completely asymptomatic
Clinical Approach
Diagnosis
- Isolated mild unconjugated hyperbilirubinemia (usually < 3-4 mg/dL)
- Normal liver enzymes (ALT, AST, ALP), normal albumin, and no signs of hemolysis
Management
- Reassurance (no treatment needed as it is a benign condition with normal life expectancy)
Complications
- Mild jaundice, no physical damage to liver or other tissues