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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