Gilbert's Syndrome

Question 1

Gilbert’s

Answer 1

Gilbert’s syndrome is an autosomal recessive* condition of defective bilirubin conjugation due to a deficiency of UDP glucuronyl transferase. The prevalence is approximately 1-2% in the general population

Features
unconjugated hyperbilinaemia (i.e. not in urine)
jaundice may only be seen during an intercurrent illness

Investigation and management
investigation: rise in bilirubin following prolonged fasting or IV nicotinic acid
Mx: no treatment required

*the exact mode of inheritance is still a matter of debate

Question 2

Gilbert’s - Example Question

Answer 2

A 30-year-old woman presents with intermittent episodes of mild jaundice. She states that she is otherwise well during these episodes but has noted that they tend to coincide with her period or occur when she has an upper respiratory tract infection. She states she thinks her mother has had similar episodes. Her blood test results are as follows.

Hb 120 g/l
Platelets 220 * 109/l
WBC 5.2 * 109/l

Urea 4.3 mmol/l
Creatinine 80 µmol/l

Bilirubin	40 µmol/l
ALP	50 u/l
ALT	35 u/l
γGT	20 u/l
Albumin	40 g/l

What is the most likely diagnosis?

	Autoimmune hepatitis
	Hepatitis B
	Hepatitis C
	> Gilberts syndrome
	Crigler-Najjar syndrome

Based on her history, the likely autosomal dominant inheritance pattern, and her liver function tests, the most likely diagnosis is Gilbert’s syndrome.

It is important to note that she is otherwise well and her liver function tests are normal apart from an elevated bilirubin. This makes a viral or autoimmune hepatitis less likely. Crigler-Najjar is usually diagnosed in infancy and has a very poor prognosis and is therefore not the correct answer in this case.