Gilbert's syndrome

Not to be confused with Guillain–Barré syndrome.

Gilbert's syndrome (GS) is a mild liver disorder characterized by the liver's inability to effectively process bilirubin, a yellowish compound produced during the normal breakdown of red blood cells.

Clinical Presentation

Many individuals with GS remain asymptomatic, but occasional symptoms can arise. These may include mild jaundice (yellowing of the skin and whites of the eyes), fatigue, weakness, and abdominal pain.

Etiology and Genetics

Gilbert's syndrome arises from a mutation in the UGT1A1 gene, which leads to decreased activity of the bilirubin uridine diphosphate glucuronosyltransferase (UGT) enzyme. This enzyme is responsible for converting bilirubin into a form that can be excreted by the body. The inheritance pattern is typically autosomal recessive, but occasional autosomal dominant patterns have been reported.

Triggers

Episodes of jaundice in Gilbert's syndrome may be triggered by stressors such as strenuous exercise, menstruation, fasting, or illness.

Diagnosis

The diagnosis of Gilbert's syndrome is typically based on higher levels of unconjugated bilirubin in the blood without signs of other liver problems or red blood cell breakdown.

Management

Treatment is usually unnecessary as the condition is benign. However, in cases where jaundice is pronounced, phenobarbital, a medication that stimulates the UGT enzyme, may be used.

Epidemiology

Gilbert's syndrome affects about 5% of people in the United States, with a higher prevalence among males. It is often not diagnosed until late childhood or early adulthood. The syndrome was first described in 1901 by the French gastroenterologist Augustin Nicolas Gilbert.

See Also

• Liver disease
• Bilirubin
• Jaundice

References

Gilbert's syndrome Resources
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