Gilbert's syndrome Flashcards
1
Q
Inheritance?
A
Autosomal recessive (although up for debate)
2
Q
Pathophysiology?
A
There is defective bilirubin conjugation due to a deficiency of UDP glucuronosyltransferase.
3
Q
Prevalence?
A
1-2% in the general population
4
Q
Features?
A
- unconjugated hyperbilirubinaemia (i.e. not in urine)
- jaundice may only be seen during an intercurrent illness, exercise or fasting
5
Q
Investigation?
A
Rise in bilirubin following prolonged fasting or IV nicotinic acid
6
Q
Treatment?
A
No treatment required
