Case Report of Intrahepatic Cholestasis Associated with ATP8B1 Gene Mutation in a Patient with Human Immunodeficiency Virus (HIV) Infection: A Diagnostic Challenge
DOI:
https://doi.org/10.22516/25007440.1120Keywords:
Jaundice, Intrahepatic cholestasis, MutationAbstract
Benign recurrent intrahepatic cholestasis (BRIC) is a rare condition that is part of a spectrum of disorders known as familial intrahepatic cholestasis. It is characterized by episodes of cholestasis lasting weeks to months with complete resolution between episodes. BRIC is associated with a good prognosis compared to other conditions, due to its later onset and lower association with fibrosis. Diagnosis is one of exclusion, posing a diagnostic challenge that requires a high index of suspicion and is confirmed by identifying the ATP8B1 gene mutation.
This report presents the case of a patient with human immunodeficiency virus (HIV) who developed severe intrahepatic cholestasis and had a history of recurrent jaundice throughout his life. After extensive studies of intrahepatic cholestasis, he was diagnosed with symptomatic BRIC with the ATP8B1 gene mutation.
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