Gilbert's syndrome
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
Investigation and management
*the exact mode of inheritance is still a matter of debate
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