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ALL / Gastroenterology
Gilbert's syndrome
Gilbert's syndrome
Gilbert's syndrome is an autosomal recessive condition of defective bilirubin conjugation due to a deficiency of UDP glucuronosyltransferase. The prevalence is approximately 1-2% in the general population.
Pathophysiology of Gilbert
Features
- unconjugated hyperbilirubinaemia (i.e. not in urine)
- jaundice may only be seen during an intercurrent illness, exercise or fasting
Investigation
- in the past, the diagnosis was supported by a rise in unconjugated bilirubin after prolonged fasting or administration of intravenous nicotinic acid.
- nowadays, this approach has been replaced by genetic testing for the UGT1A1 promoter region polymorphism, which provides a definitive diagnosis
Management
- no treatment required
+PassMedicine Notes
Gilbert's syndrome is an autosomal recessive condition of defective bilirubin conjugation due to a deficiency of UDP glucuronosyltransferase. The prevalence is approximately 1-2% in the general population.
Features- unconjugated hyperbilirubinaemia (i.e. not in urine)
- jaundice may only be seen during an intercurrent illness, exercise or fasting
- in the past, the diagnosis was supported by a rise in unconjugated bilirubin after prolonged fasting or administration of intravenous nicotinic acid.
- nowadays, this approach has been replaced by genetic testing for the UGT1A1 promoter region polymorphism, which provides a definitive diagnosis
- no treatment required