Gilbert's Syndrome

Exam Cram

• Gilbert's Syndrome is a inability to excrete (conjugate) bilirubin, its genetic (autosomal recessive)

• Presentation: post viral jaundice 

• Diagnosis: Isolated hyperbilirubinaemia (unconjugated raised, normal conjugated)

• Management: nil, benign

Outline

Background

• Genetic inability to conjugate bilirubin. 

• Conjugation ensures molecules are water soluble, facilitating their excretion. In Gilbert's, there is a deficiency in the enzyme that conjugates bilirubin. Unconjugated bilirubin isn't water soluble and is unable to be excreted. Therefore in Gilbert's there is an accumulation of unconjugated bilirubin, producing jaundice. 

• Inheritance: Autosomal recessive. 

• Gene: UGT1A1. 

• Enzyme changes: Reduction in glucuronosyltransferase

• Population point prevalence: 5% UK (3)

Assessment

History:

• Post upper respiratory tract infection jaundice

Examination:

• Jaundice sclera

• Otherwise well

Investigations

• Isolated hyperbiliruibinaemia (unconjugated)

Diagnosis

Diagnostic criteria: clinical diagnosis for asymptomatic hyperbilirubinaemia, unconjugated 

Genetic testing not routinely performed due to its benign nature. 

Management

Nil. 

Med Reg Notes

Potentially associated with a mild improvement in cardiovascular mortality. 

References and Resources

1. Thoguluva Chandrasekar V, Faust TW, John S. Gilbert Syndrome. [Updated 2023 Feb 6]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK470200/ 

2. The Royal Children’s hospital melbourne. The Royal Children’s Hospital Melbourne. Available at: https://www.rch.org.au/kidsinfo/fact_sheets/gilberts_syndrome/ (Accessed: 26 September 2024).

3. NHS Gilbert’s Syndrome, NHS choices. Available at: https://www.nhs.uk/conditions/gilberts-syndrome/ (Accessed: 26 September 2024).

Created in 2024.