Gilbert’s syndrome is a benign, inherited process with intermittent indirect hyperbilirubinemia.
Usually appears near puberty with male predominance.
Associated with mild uncongugated hyperbilirubinemia, without liver disease, normal liver function tests, normal blood smear and CBC and normal reticulocyte count.
Can be exacerbated by fever, exercise, alcohol, stress and fatigue.
In females can be associated with the premenstrual period.
Bilirubin concentrations typically are greater than 3 mg/dL.
Variable genetic transmission.
Prevalence about 8%.
Irinotecan associated with increased gastrointestinal toxicity.
1:100 women and 1:20 men have glucuronyl-transferase deficiency the enzyme responsible for the disease.
Glucuronyl transferase activity is about one third of normal levels.
Caused by a liver deficiecy of the enzyme uridine diphosphate-glucuronsyltransferase 1 (UGT1A1) which converts insoluble bilirubin to a form suitable for renal and biliary excretion.
Usually an incidental finding in an otherwise healthy adolescent or young adult male.
Male:female ratio 2.7:1.
Bilirubin rarely rises above 6 mg/dL.
No treatment needed.
Gilbert syndrome has been found to strongly protect against cardiovascular disease in the Framingham Offspring Study, indicating a protective effect of moderately increased bilirubin.