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Case Reports
. 2025 Jun 20;12(6):e01741.
doi: 10.14309/crj.0000000000001741. eCollection 2025 Jun.

An Unusual Presentation of Gilbert Syndrome

Akhila Chilakala  1 , Brenton G Davis  1 , Max Goldman  1 , Nizar A Mukhtar  1
Affiliations
Case Reports

An Unusual Presentation of Gilbert Syndrome

Akhila Chilakala et al. ACG Case Rep J. .

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.

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Figures

Figure 1.
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.
See this image and copyright information in PMC

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