Gilbert’s syndrome
BMJ 2011; 342 doi: https://doi.org/10.1136/bmj.d2293 (Published 20 April 2011) Cite this as: BMJ 2011;342:d2293- Lee C Claridge, Wellcome Trust clinical research fellow1,
- Matthew J Armstrong, Wellcome Trust clinical research fellow1,
- Caroline Booth, general practice vocational training scheme specialist trainee year 22,
- Paramjit S Gill, general practitioner and clinical reader in primary care research3
- 1Centre for Liver Research, University of Birmingham, Birmingham B15 2TT, UK
- 2York Hospital NHS Trust, York YO31 8HE, UK
- 3School of Health and Population Sciences, University of Birmingham
- Correspondence to: L C Claridge l.c.claridge{at}bham.ac.uk
- Accepted 28 February 2011
A 22 year old man presents with a resolving episode of mild jaundice after an influenza-like illness. He reports a previous episode after an appendicectomy, which also resolved spontaneously, but he is worried about the implications of this recurrence. Biochemical records from his surgical admission show a slightly raised bilirubin concentration of 48 µmol/l (normal < 22 µmol/l), but alanine aminotransferase, alkaline phosphatase, γ-glutamyl transferase and albumin were all within normal limits.
What you should cover
The history and biochemistry in this patient strongly suggest Gilbert’s syndrome, a hereditary (usually autosomal recessive) condition caused by impaired hepatic bilirubin clearance.1 Gilbert’s syndrome is present in 5-10% of Western European populations with 1 in 3 of those affected unaware that they have it.2 3 Diagnosis of the disorder is often made after an incidental finding of isolated hyperbilirubinaemia on routine liver biochemistry testing.
Bilirubin is the normal by-product of the breakdown of red blood cells (haemoglobin). Patients with Gilbert’s syndrome have a defect in the gene that encodes for glucuronyltransferase, which results in a 60-70% reduction in the liver’s ability to conjugate bilirubin. This subsequent increase …
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