Gilbert�s Syndrome

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Gilbert's syndrome is a common, mild liver disease in which a liver enzyme required to process bilirubin is abnormal. Treatment is not necessary.

Gilbert's syndrome is a common, mild liver disease in which a liver enzyme required to process bilirubin (a chemical produced by the normal breakdown of red blood cells) is abnormal. It is a harmless inherited genetic condition found in up to five percent of the population. Gilbert's syndrome is often discovered by accident in young adults by finding an elevated bilirubin level in blood. This raised bilirubin level usually fluctuates between 2 and 5 mg/dl and may increase with fasting and other stressos. The syndrome is often mistaken for chronic hepatitis or other liver diseases. Treatment is not necessary.

Gilbert's syndrome is also known as constitutional hepatic dysfunction, benign unconjugated bilirubinemia and familial nonhemolytic jaundice.

Causes of Gilbert's Syndrome

Gilbert's syndrome is the result of a mutation in a gene for the enzyme UGT1A. Metabolism of bilirubin requires enzymes called UGT glucuronosyl transferases, and UGT1A is one among these. The gene that codes for UGT1A is located on chromosome 2.

A different type of mutation in the same gene is responsible for a more severe and dangerous disease called Crigler-Najjar syndrome.

Gilbert's syndrome is inherited in an autosomal recessive pattern, i.e. a copy of the defective gene from both parents is required for the child to develop the serious ailment. Many people carry one copy of the abnormal gene. Two abnormal copies are needed for Gilbert's syndrome to develop.

References:

1. Harrison�s Principles of Internal Medicine 18^th Edition
2. The Merck Manual
3. Cecil Medicine 24^th Edition

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