A Rare Presentation of Indirect Hyperbilirubinemia: Coexistence of Multiple UGT1A1 Gene Variants

Phi Tran; Andrea Grimbergen; Megan Lewis; Ruiyang Yi; Christopher Williams

doi:10.14309/crj.0000000000001436

A Rare Presentation of Indirect Hyperbilirubinemia: Coexistence of Multiple UGT1A1 Gene Variants

ACG Case Rep J. 2024 Jul 17;11(7):e01436. doi: 10.14309/crj.0000000000001436. eCollection 2024 Jul.

Authors

Phi Tran¹, Andrea Grimbergen¹, Megan Lewis^{2

3}, Ruiyang Yi⁴, Christopher Williams^{2

3}

Affiliations

¹ Department of Internal Medicine, Baylor Scott and White Medical Center, Temple, TX.
² Division of Gastroenterology, Baylor Scott and White Medical Center, Temple, TX.
³ Baylor College of Medicine, Temple, TX.
⁴ Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.

Abstract

Indirect hyperbilirubinemia is a common clinical finding and rarely can be attributed to Crigler-Najjar syndrome type 2 or Gilbert syndrome. This case displays a rare presentation of indirect hyperbilirubinemia in a patient with multiple UGT1A1 gene variants. We aim to discuss the complexity of multiple UGT1A1 gene variants and its effect on the degree of observed hyperbilirubinemia.

Keywords: Crigler-Najjar; Gilbert Syndrome; genetics; hyperbilirubinemia.

Publication types

Case Reports