Drexler S, Haedge F, Weber SN, Krawczyk M, Krawczyk M, Matter MS, Geppert CI, Weber A, Stieger B, Kremer AE, Trautwein C (2025)
Publication Type: Journal article
Publication year: 2025
Book Volume: 17
Pages Range: 1-7
Article Number: 92426
Journal Issue: 4
BACKGROUND Genetic disorders affecting hepatobiliary transporters can be triggered by various factors, resulting in marked cholestasis. CASE SUMMARY 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 ATP8B1, ABCB11, ABCB4, MYO5B, and FXR. 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. CONCLUSION 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.
APA:
Drexler, S., Haedge, F., Weber, S.N., Krawczyk, M., Krawczyk, M., Matter, M.S.,... Trautwein, C. (2025). Hepatitis E virus infection-triggered intrahepatic cholestasis: A case report. World Journal of Hepatology, 17(4), 1-7. https://doi.org/10.4254/wjh.v17.i4.92426
MLA:
Drexler, Stephan, et al. "Hepatitis E virus infection-triggered intrahepatic cholestasis: A case report." World Journal of Hepatology 17.4 (2025): 1-7.
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