Gilbert Syndrome (cont.)

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What causes Gilbert syndrome?

Gilbert syndrome is the result of a genetic mutation in the promoter region of a gene for the enzyme UGT1A (one of the enzymes called UGT glucuronosyltransferases that are important for bilirubin metabolism). The gene is located on chromosome 2. Other types of mutations in the same gene cause the Crigler-Najjar syndrome, which is a more severe and dangerous form of hyperbilirubinemia (high bilirubin in the blood).

People with two copies of the abnormal promoter region for the UGT1A gene (one inherited from each parent) have Gilbert's syndrome and elevated bilirubin levels, suggesting an autosomal recessive mode of inheritance. This means that both parents require the gene for expression of the abnormality in the offspring.

Gilbert syndrome is a frequent finding in people in the United States and Europe. The condition is usually detected serendipitously (purely by accident) in the course of routine blood screening.

What are the symptoms of Gilbert syndrome?

The elevated bilirubin pigment can sometimes cause mild yellowing (jaundice) of the eyes. People with Gilbert syndrome are otherwise entirely normal with no other signs or symptoms. Their liver enzyme levels in blood serum are also entirely normal.

Gilbert syndrome is most commonly diagnosed after puberty, when alterations in sex hormone levels cause the blood bilirubin levels to rise. Situations that aggravate elevated blood bilirubin levels (such as fasting, destruction of red blood cells, or illnesses) may be the initial factors that cause the patient to seek medical attention.

What is the treatment for Gilbert syndrome?

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There is no need for treatment, and the prognosis (outlook) is excellent.

Medically reviewed by Margaret Walsh, MD; American Board of Pediatrics
REFERENCE:
"Patient information: Gilbert's syndrome (Beyond the Basics)" uptodate.com


Medically Reviewed by a Doctor on 12/20/2013

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