What is Gilbert syndrome?

Updated: Sep 29, 2020
  • Author: Hisham Nazer, MBBCh, FRCP, DTM&H; Chief Editor: BS Anand, MD  more...
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Answer

Gilbert syndrome is a benign, familial disorder inherited in an autosomal recessive pattern characterized by intermittent jaundice in the absence of hemolysis or an underlying liver disease. The condition is recognized to arise from a mutation in the promoter region of the UGT1A1 gene, which results in reduced UGT production. (See Pathophysiology and Etiology.)

Also called constitutional hepatic dysfunction or familial nonhemolytic jaundice, Gilbert syndrome is the mildest form of inherited, nonhemolytic unconjugated hyperbilirubinemia. [14] The most common inherited cause of unconjugated hyperbilirubinemia, it occurs in 3-7% of the world’s population. (See Epidemiology.)

By definition, bilirubin levels in Gilbert syndrome are lower than 6 mg/dL, though most patients exhibit levels lower than 3 mg/dL. Considerable daily and seasonal variations are observed, and in as many as one third of patients, the bilirubin levels may occasionally be normal.

Gilbert syndrome may be precipitated by dehydration, fasting, menstrual periods, or other causes of stress, such as an intercurrent illness or vigorous exercise. Patients may report vague abdominal discomfort and general fatigue for which no cause is found. These episodes typically resolve spontaneously without curative treatment.

As a rule, Gilbert syndrome can be diagnosed with a thorough history and physical examination and can be confirmed with standard blood tests. Repeated investigations and invasive procedures are not usually justified for establishing a diagnosis. (See Presentation and Workup.)

Once the diagnosis of Gilbert syndrome is established, the most important aspect of treatment is reassurance. In light of the benign and inconsequential nature of the syndrome, the use of medications to treat patients with this condition is unjustified in clinical practice. (See Treatment and Medication.)


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