Gilbert’s syndrome test

Gastroenterology
by Medical Educator Gastroenterology

Gilbert’s syndrome is a common, benign liver condition that affects the metabolism of bilirubin, a yellow pigment produced by the breakdown of red blood cells. People with Gilbert’s syndrome typically have elevated levels of bilirubin in their blood, which can cause episodes of mild jaundice, fatigue, and abdominal discomfort. Although the symptoms of Gilbert’s syndrome are usually mild and manageable, it is still important for medical students to be familiar with this condition and its management.

If you’re a medical student looking to expand your knowledge of liver diseases, then why not try our free multiple choice questions on Gilbert’s syndrome? These questions are designed to test your understanding of the pathophysiology, diagnosis, and management of this condition, and to help you enhance your diagnostic and therapeutic skills.

Table of Contents

Gilberts aetiology

In Gilbert’s syndrome the aetiology of the jaundice is predominantly a defect in

  • Haemolysis
  • Vasoactiv Intestinal Polypeptide (VIP)
  • Gastric inhibitory polypeptide
  • Cholecystokinin
  • UDP glucuronlytransferase enzyme

UDP glucuronlytransferase enzyme

Know this: its UDP glucuronlytransferase giving you guessed it, hepatic jaundice with unconjugated bilirubin.

Gilberts case

A 26 year old male medical student presents to his GP with recurrent jaundice usually after finishing important exams. He has noticed this on 3 occasions. He has had no specific symptoms. When examined there are no physical signs. His GP checks his blood tests and finds the following

Albumin 44
Alk Phos 86 (<110)
ALT 24 (<40)
Bilirubin 16 (<20)
INR 1.0
GGT 88 (0-70)

What of the following is true?

  • He is likely to have alcoholic hepatitis
  • He is likely to have gallstones
  • He has Crigler-Najjar syndrome
  • The jaundice is likely to be prehepatic in origin
  • There is likely to be a family history of similar complaints

There is likely to be a family history of similar complaints.

It’s likely that he has Gilbert’s syndrome, a condition characterised by an enzyme deficiency leading to a rise in unconjugated bilirubin. The Gamma GT is a red herring.

Gilbert’s (pronounced sheeeelbeeerts on Gastro ward rounds) is autosomal dominant transmission and rarely requires treatment. Hence the family history.

What advice would you give the student?

  • Avoid fatty foods
  • Avoid alcohol completely
  • He needs a liver biopsy
  • The jaundice is likely to be prehepatic in origin
  • No specific advice needed
  • Check his cholesterol
  • A social history should be sought

A social history should be sought

No specific treatment is required but the student should be aware that fasting/ stress etc can provoke an attack of jaundice.

Whilst it would be quite fun to do a liver biopsy there’s around a 1% chance of serious complications and the histology in Gilberts is normal.

BUT

His gamma GT is elevated. This may represent concurrent ethanol misuse. So…take a social history.

What is the approximate chance that the patients mother has Gilbert’s?

  • 100%
  • 75%
  • 50%
  • 25%
  • 0%

50%

It’s autosomal sominant. The balance of probablities tells you its likely that only one parent carries the dominant gene.

(If it were recessive its likely both parents carry the gene to transfer it).

So theres a 50% chance it’s his Mum.

If Gilbert’s was “X linked” then there would be a “100%” chance it came from his mum as he would have his mothers X and his Fathers Y.