Gilbert's syndrome
| Gilbert's syndrome | |
|---|---|
| Synonyms | Gilbert–Meulengracht syndrome |
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| Bilirubin | |
| Pronunciation | |
| Classification and external resources | |
| Specialty | endocrinology |
| ICD-10 | E80.4 |
| ICD-9-CM | 277.4 |
| OMIM | 143500 |
| DiseasesDB | 5218 |
| MedlinePlus | 000301 |
| eMedicine | med/870 |
| Patient UK | Gilbert's syndrome |
| MeSH | D005878 |
Gilbert's syndrome (GS) is a common genetic liver disorder found in 3-12% of the population.
It produces elevated levels of unconjugated bilirubin in the bloodstream (hyperbilirubinemia), but this normally has no serious consequences, although mild jaundice may appear under conditions of exertion or stress.
The cause of this hyperbilirubinemia is the reduced activity of the enzyme glucuronyltransferase, which conjugates bilirubin and a few other lipophilic molecules. Conjugation renders the bilirubin water-soluble, after which it is excreted in bile into the duodenum. There are a number of variants of the gene for the enzyme, so the genetic basis of the condition is complex.
Gilbert's syndrome produces an elevated level of unconjugated bilirubin in the bloodstream, but normally has no serious consequences. Mild jaundice may appear under conditions of exertion, stress, fasting, and infections, but the condition is otherwise usually asymptomatic. Severe cases are seen by yellowing of the skin tone and yellowing of the sclera in the eye.
GS has been reported to possibly contribute to an accelerated onset of neonatal jaundice, especially in the presence of increased red blood cell destruction due to diseases such as G6PD deficiency. This situation can be especially dangerous if not quickly treated, as the high bilirubin causes irreversible neurological disability in the form of kernicterus.
The enzymes that are defective in GS - UDP glucuronosyltransferase 1 family, polypeptide A1 (UGT1A1) - are also responsible for some of the liver's ability to detoxify certain drugs. For example, Gilbert's syndrome is associated with severe diarrhea and neutropenia in patients who are treated with irinotecan, which is metabolized by UGT1A1.
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