Information
Editors
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]