Gilbert's syndrome

Question 1

What is Gilbert’s syndrome

Answer 1

An isolated rise in bilirubin in response to physiological stress is typical of Gilbert’s syndrome

Gilbert’s syndrome is anautosomal recessive* condition of defective bilirubin conjugation due to adeficiency of UDP glucuronosyltransferase. The prevalence is approximately 1-2% in the general population.

Question 2

Features of Gilbert’s

Answer 2

• unconjugated hyperbilirubinaemia (i.e. not in urine)
• jaundice may only be seen during anintercurrent illness, exercise or fasting

Question 3

Investigation + management of Gilbert’s syndrome

Answer 3

• investigation: rise in bilirubin following prolonged fasting or IV nicotinic acid
• no treatment required
• the exact mode of inheritance is still a matter of debat

Question 4

An isolated hyperbilirubinaemia in a 22-year-old male is likely to be secondary to Gilbert’s syndrome. The normal dipstix urinalysis excludes Dubin-Johnson and Rotor syndrome as these both produce a conjugated bilirubinaemia. _________ are common triggers for a rise in the bilirubin in patients with Gilbert’s

Answer 4

viral infections