Gilberts Syndrome

Question 1

What type of genetic mutation is Gilbert’s syndrome? E.g. recessive/dominant

Answer 1

Autosomal recessive

Question 2

What is Gilbert syndrome?

Answer 2

Gilbert syndrome is a benign, inherited cause of abnormal processing of bilirubin within the liver. This leads to recurrent episodes of unconjugated hyperbilirubinaemia.

Question 3

What type of hyperbilirubinaemia is seen in Gilbert’s?

Answer 3

Unconjugated

Question 4

What is the most common cause of inherited jaundice?

Answer 4

Gilbert’s

Question 5

When does Gilbert’s usually present?

Answer 5

Puberty

Question 6

Which gender is Gilbert’s more commonly seen in?

Answer 6

Males

Question 7

What converts biliverdin to bilirubin?

Answer 7

Biliverdin reductase

Question 8

What is bilirubin conjugated to to make it soluble?

Answer 8

Albumin

Question 9

What is Gilbert’s precipitated by? (6)

Answer 9

• Fasting
• Haemolysis
• Febrile illness
• Physical exertion
• Stress
• Menses

Question 10

What is the main feature of Gilbert’s?

Answer 10

Recurrent episodes of jaundice

Question 11

What is seen on LFTs in Gilbert’s?

Answer 11

Rise in unconjugated bilirubin

Question 12

Where would a mutation be found for Gilbert’s?

Answer 12

Promoter region of the gene for UGT1A1

Question 13

What is the management of Gilbert’s?

Answer 13

No specific management is required for patients with Gilbert syndrome.
Gilbert syndrome is a benign condition without long-term sequelae. No specific treatment is indicated other than patient education.