Gilbert's Syndrome

Key points

• Gilbert's syndrome is an autosomal recessive* condition of defective bilirubin conjugation due to a deficiency of UDP glucuronyl transferase. The prevalence is approximately 1-2% in the general population Features
• unconjugated hyperbilinaemia (i.e. not in urine)
• jaundice may only be seen during an intercurrent illness Investigation and management
• investigation: rise in bilirubin following prolonged fasting or IV nicotinic acid
• no treatment required *the exact mode of inheritance is still a matter of debate