Benign Recurrent Intrahepatic Cholestasis: A Rare Diagnostic Challenge

Benign Recurrent Intrahepatic Cholestasis (BRIC) is a rare liver disorder that occurs sporadically or via autosomal recessive inheritance. It is characterised by recurrent episodes of cholestasis with pruritus and jaundice in the absence of chronic liver disease. It typically first presents in childhood or adolescence; however, adult-onset forms may occur and can be difficult to diagnose. The present case report involves a 23-year-old male who presented with recurrent episodes of jaundice, pruritus and pale stools. A thorough evaluation, including autoimmune, infectious and metabolic workup, was negative. Imaging studies showed no evidence of extrahepatic biliary obstruction, and liver biopsy indicated a cholestatic pattern consistent with intrahepatic cholestasis. Whole-exome sequencing, a form of genetic testing, identified a mutation in the ATP8B1 gene, confirming the diagnosis of BRIC. Whole-exome sequencing revealed a pathogenic mutation in ATP8B1, which encodes the Familial Intrahepatic Cholestasis 1 (FIC1) protein responsible for bile salt homeostasis. Mutations in ATP8B1 are associated with BRIC type 1 and are essential to confirm the diagnosis, particularly in atypical or late-onset presentations. The patient was managed conservatively, with resolution of symptoms, and experienced no further attacks during follow-up. The present case illustrates the need to consider BRIC in the differential diagnosis of recurrent cholestatic jaundice in young adults when other common aetiologies have been excluded. Timely recognition allows appropriate supportive management and reduces the burden of unnecessary investigations.