Benign Recurrent Intrahepatic Cholestasis (BRIC): An African Case Report

Abstract

Benign recurrent intrahepatic cholestasis (BRIC) is a rare disorder characterised by recurrent episodes of cholestatic jaundice. First described in 1959, BRIC has been reported in patients all over the world including of African descent. Here, we describe a case of a 21-year-old male with recurring episodes of cholestatic jaundice where we diagnosed BRIC and terminated an episode with rifampicin. To our knowledge, this is the first case report of BRIC diagnosed in Africa.

Case Report: A Novel Homozygous Variant Identified in a Chinese Patient With Benign Recurrent Intrahepatic Cholestasis-Type 1

“…BRIC-2 is associated with a variant in the ABCB11 gene (chromosome 2q24) that is in charge of encoding BSEP (11). As its name suggests, BSEP is responsible for exporting bile into the canaliculi from the hepatocytes (2). BRIC is mainly characterized by episodic cholestasis and severe pruritus accompanied by asymptomatic intervals for several months to years.…”

“…BRIC is a rare genetic disorder characterized by intermittent episodes of jaundice and pruritus. The first episode may occur from age 1-59 years, and it frequently occurs in the first two decades of life (2). The exact prevalence of BRIC remains unknown, but the estimated incidence is ∼1 in 50,000-100,000 people worldwide (3).…”

“…Owing to a variant of the ATPase phospholipid transporting 8B1(ATP8B1) gene, familial intrahepatic cholestasis 1 (FIC1) in BRIC-1 is deficient, and this could weaken the function of the bile salt export pump (BSEP) that is responsible for transporting bile into the canaliculi (2,3,6,7). FIC1 is probably associated with the stability of the plasma membrane, and an associated disturbance might influence the function of other transmembrane proteins including BSEP.…”

“…FIC1 is probably associated with the stability of the plasma membrane, and an associated disturbance might influence the function of other transmembrane proteins including BSEP. Moreover, a variant of the ABCB11 gene in BRIC-2 can decrease the count of BSEP transporters (2,3,6). Both variants could result in cholestasis by impairing the function of the BSEP directly or indirectly.…”

An Unusual Case of Benign Recurrent Intrahepatic Cholestasis

“…At discharge, total bilirubin was 7.53, direct bilirubin 4.36. and alkaline phosphatase 141. [2,3,4,5] and one case by cutaneous infection [6]. Laboratory tests reveal biochemical evidence of cholestasis without severe hepatocellular injury.…”