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EBMG

Gilbert's Syndrome

Essentials

  • This common disorder presenting as asymptomatic jaundice should be identified and unnecessary examinations and referrals avoided.

Epidemiology

  • The prevalence in White and Asian populations is estimated to be 3-7%.

Aetiology and findings

  • Gilbert's syndrome is an autosomally inherited disorder of bilirubin metabolism characterized by an increase of serum unconjugated bilirubin and intermittent jaundice.
  • The disorder is caused by defective conjugation and decreased clearance of bilirubin in the liver.
  • The condition is benign.
  • Jaundice is usually first observed at the age of 20-30 years in association with fasting or alcohol consumption.

Diagnosis

  • Clinical jaundice or increased serum bilirubin concentration (usually below 50 µmol/l). Level of conjugated bilirubin is normal and that of unconjugated bilirubin is increased.
  • The typical patient is a young man, who is fit and well. Other liver function tests (ALT, GGT) are normal.
  • No liver biopsy or ultrasonography is necessary. The diagnosis can be made in primary health care.

Differential diagnosis

  • Diseases of the biliary ducts (usually abnormalities in the liver function test); see also Assessing a patient with an abnormal liver function test result Assessing a Patient with an Abnormal Liver Function Test Result.
  • No haemolysis is detected (plasma haptoglobin and blood reticulocytes are normal)
  • Other possible aetiologies for unconjugated hyperbilirunemia
    • Haematoma
    • Thyrotoxicosis
    • Hepatotoxic medications
    • Rhabdomyolysis
    • Crigler-Najjar syndrome

Treatment

  • The disorder is of benign nature. There is no need for treatment, advice on living habits or follow-up.

    References

    • Fretzayas A, Moustaki M, Liapi O et al. Gilbert syndrome. Eur J Pediatr 2012;171(1):11-5. [PubMed]

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