Gilbert syndrome is a presumably lifelong disorder in which the only significant abnormality is asymptomatic, mild, unconjugated hyperbilirubinemia. It can be mistaken for chronic hepatitis or other liver disorders.
Gilbert syndrome may affect as many as 5% of people. Although family members may be affected, a clear genetic pattern is difficult to establish.
Pathogenesis may involve complex defects in the liver’s uptake of bilirubin. Glucuronyl transferase activity is low, though not as low as in Crigler-Najjar syndrome type II. In many patients, RBC destruction is also slightly accelerated, but this acceleration does not explain hyperbilirubinemia. Liver histology is normal.
Gilbert syndrome is most often detected in young adults serendipitously by finding an elevated bilirubin level, which usually fluctuates between 2 and 5 mg/dL (34 and 86 μmol/L) and tends to increase with fasting and other stresses.
Gilbert syndrome is differentiated from hepatitis by fractionation that shows predominantly unconjugated bilirubin, otherwise normal liver function test results, and absence of urinary bilirubin. It is differentiated from hemolysis by the absence of anemia and reticulocytosis.
Treatment is unnecessary. Patients should be reassured that they do not have liver disease.