Gilberts syndrome

Question 1

Definition

Answer 1

Inherited-autosomal recessive condition = abnormal UGT = metabolic disorder characterised by increased unconjugated hyperbilirubinemia

Question 2

Precipitants

Answer 2

Physical or psychological stress, including:
- Diet
- Fasting
- Surgery
- Dehydration
- Alcohol
- Lack of sleep
Self limiting and resolve after a few days

Question 3

Epidemiology + Risk factors

Answer 3

Asian population
Male
T1DM
Post pubertal age
Family history

Question 4

Aetiology

Answer 4

TATA box promotor region of the UGT1A1 gene on chromosome 2

Question 5

Signs + Symptoms

Answer 5

Generally asymptomatic
- Painless jaundice at a young age
Criggler Najjar = more severe
- Jaundice
- N+V
- Lethargy
- Abdominal pan
- Itch
- Pale stool + Dark urine

Question 6

Diagnosis

Answer 6

Increased serum bilirubin (65-85um/l)
Normal LFTs
No evidence of haemolysis
Normal ALT, GGT
Normal lactate dehydrogenase

Question 7

Treatment

Answer 7

No treatment or regular monitoring is required
- cannot progress to chronic liver disease
- not a sign of serious illness + not infection
Be aware of certain drugs to be used with caution
- gemfibrozil = can cause hyperbilirubinemia
- statins
- both combined