Practice 10-Minute Consultation

Gilbert’s syndrome

BMJ 2011; 342 doi: http://dx.doi.org/10.1136/bmj.d2293 (Published 20 April 2011) Cite this as: BMJ 2011;342:d2293
  1. Lee C Claridge, Wellcome Trust clinical research fellow1,
  2. Matthew J Armstrong, Wellcome Trust clinical research fellow1,
  3. Caroline Booth, general practice vocational training scheme specialist trainee year 22,
  4. Paramjit S Gill, general practitioner and clinical reader in primary care research3
  1. 1Centre for Liver Research, University of Birmingham, Birmingham B15 2TT, UK
  2. 2York Hospital NHS Trust, York YO31 8HE, UK
  3. 3School of Health and Population Sciences, University of Birmingham
  1. 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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