An Unusual Presentation of Gilbert Syndrome

Abstract

Unconjugated hyperbilirubinemia arises from elevated bilirubin production, impaired hepatic uptake, or reduced bilirubin conjugation, the latter often attributed to hereditary factors such as Gilbert syndrome involving mutations in the diphosphoglucuronate-glucuronosyltransferase 1A1 gene. Bilirubin levels in Gilbert syndrome typically range from 1.2 to 3.0 mg/dL, occasionally peaking up to 5.0 mg/dL. This case report details a jaundiced 24-year-old man with no significant medical history but otherwise asymptomatic presenting with indirect hyperbilirubinemia markedly elevated to 10.3 mg/dL.

Keywords: asymptomatic jaundice; hereditary hyperbilirubinemia; unconjugated hyperbilirubinemia.

Figure 1.

Association, genetic mutations, and presentations of UGT1A1 gene disorders: Gilbert syndrome, Crigler-Najjar syndrome type I, and Crigler-Najjar syndrome type II. UGT1A1, uridine diphosphate-glucuronosyltransferase 1A1.