Gilbert’s Syndrome

Background

• Most common inherited disorder of bilirubin metabolism.  Autosomal dominant gene mutations in the promoter for UDP-glucuronyl transferase enzyme (decreasing expression)
  • Results in decreased conjugation of bilirubin and accumulation of unconjugated bilirubin in the blood
  • There is no evidence of haemolysis, normal liver function and no evidence of liver disease

Presentation

• Usually presents with non-pruritic jaundice, usually in the setting of physical stress/illness or fasting.
  • Usually diagnosed in early adolescence
  • There may also be features such as dark stools/urine

Investigations

• LFTs- raised bilirubin (although usually <100μmol/l or <6mg/dl); split bilirubin may identify unconjugated hyperbilirubinaemia
• Other tests are usually normal

Management

• No management is usually required.
• Important not to misdiagnose as a more serious cause of liver disease
• Avoidance of certain drugs may be required (although the list is limited)

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