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