Hepatitis E virus infection-triggered intrahepatic cholestasis: A case report

Genetic disorders affecting hepatobiliary transporters can be triggered by various factors, resulting in marked cholestasis. We report two patients who experienced a severe episode of intrahepatic cholestasis triggered by an acute hepatitis E virus infection. Following an extensive clinical examination that ruled out common causes of cholestatic liver damage, we conducted next-generation sequencing to determine the genetic profiles of the patients. The analysis revealed several known and unknown variants in genes associated with hepatobiliary transporters and bile salt regulation, including , , , , and . For a comprehensive understanding of the pathophysiology, we performed ClinVar analysis and utilized PolyPhen for bioinformatic prediction of functional impact. Both patients exhibited rapid symptom improvement and a decrease in hyperbilirubinemia when treated with either rifampicin or bezafibrate. Our findings introduce hepatitis E viral infection as a novel trigger for intrahepatic cholestasis, and we categorize the significance of the various genetic variants based on the current state of research.

Publication Details

Journal
Universität Zürich, ZORA
Published
2025-04-27
DOI
https://doi.org/10.5167/uzh-280887
Primary Topic
Hepatitis Viruses Studies and Epidemiology
Type
article
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article

Hepatitis E virus infection-triggered intrahepatic cholestasis: A case report

Universität Zürich, ZORA
Hepatitis Viruses Studies and Epidemiology
article

Hepatitis E virus infection-triggered intrahepatic cholestasis: A case report

article en

Abstract

Genetic disorders affecting hepatobiliary transporters can be triggered by various factors, resulting in marked cholestasis. We report two patients who experienced a severe episode of intrahepatic cholestasis triggered by an acute hepatitis E virus infection. Following an extensive clinical examination that ruled out common causes of cholestatic liver damage, we conducted next-generation sequencing to determine the genetic profiles of the patients. The analysis revealed several known and unknown variants in genes associated with hepatobiliary transporters and bile salt regulation, including , , , , and . For a comprehensive understanding of the pathophysiology, we performed ClinVar analysis and utilized PolyPhen for bioinformatic prediction of functional impact. Both patients exhibited rapid symptom improvement and a decrease in hyperbilirubinemia when treated with either rifampicin or bezafibrate. Our findings introduce hepatitis E viral infection as a novel trigger for intrahepatic cholestasis, and we categorize the significance of the various genetic variants based on the current state of research.

Universität Zürich, ZORA
Good health and well-being
Openalex Percentile: Top 33%
Hepatitis Viruses Studies and Epidemiology
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Hepatitis E virus infection-triggered intrahepatic cholestasis: A case report · Universität Zürich, ZORA (2025) | TGRS Research Map | TGRS