Gilbert Syndrome

Gilbert's syndrome (pr. Zhil-bear), often shortened to the acronym GS, is the most common hereditary cause of increased bilirubin, and is found in up to 5% of the population. The main symptom is otherwise harmless jaundice which does not require treatment, caused by elevated levels of unconjugated bilirubin in the bloodstream (hyperbilirubinemia).
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Gilbert syndrome Constitutional liver dysfunction, low-grade chronic hyperbilirubinemia An inherited defect in bilirubin metabolism Clinical [more]Gilbert syndrome - Community and Resources

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This is the most common familial hyperbilirubinaemia.It is asymptomatic and is usually detected as an incidental finding of a slightly raised bilirubin(17-102 micromol/L or 1-6 mg/dl) on a routine check.No signs of liver disease is seen. There is a family history of jaundice in 5-15% of patients. Many abnormalities of bilirubin handling have been demonstrated .Most patients have reduced levels of UDP-glucuronosyl transferase activity, the enzyme that conjugate bilirubin with glucuronic acid. Recent evidence has shown mutations in the gene encoding this enzyme with an expanded nucleotide repeat in the upstream promoter element. This abnormality appears to be necessary for the syndrome, but is not in itself sufficient for the phenotypic expression of the syndrome.
The major importance of establishing the diagnosis is to inform the patient that this is not a serious disease and to prevent unnecessary investigation in the future. Investigation shows only araised unconjugated bilirubin,which rises on fasting and during a mild illness.The reticulocyte count is normal and no treatment is necessary.