All::Gastroenterology::Diseases::Gilbert's syndrome
Intro
What is Gilbert's syndrome?
a syndrome in which the liver of affected individuals processes bilirubin more slowly than the majority
What is the inheritance pattern of Gilbert's syndrome?
autosomal recessive
What are the main clinical features of Gilbert's syndrome?
- unconjugated hyperbilirubinaemia (i.e. not in urine)
- jaundice may only be seen during an intercurrent illness, exercise or fasting
What are the investigations findings in Gilbert's syndrome?
rise in bilirubin following prolonged fasting or IV nicotinic acid
What is the management of Gilbert's syndrome?
no treatment required
What is the pathophysiology of Gilbert's syndrome?
defective bilirubin conjugation due to a deficiency of UDP glucuronosyltransferase