Extracorporeal blood purification improves nasobiliary drainage (NBD)-refractory pruritus in a BRIC type 2 patient

Introduction: Benign recurrent intrahepatic cholestasis type 2 (BRIC2) is a rare genetic disease caused by mutations of the hepatobiliary transporter for bile salts (ABCB11). It is characterized by episodes of cholestatic itch and jaundice. Here we present a case of refractory BRIC type 2 who improved rapidly with plasma separation and anion absorption therapy.

Case presentation: The 23-year-old male patient, a compound heterozygous carrier of the ABCB11 mutations c.3491delT and c.3826C>T, was referred to our department with a prolonged episode of refractory pruritus due to BRIC type 2. It was his 4th BRIC episode and it had lasted for several weeks before admission to our department. Previously he had undergone therapy with ursodeoxycholic acid, rifampicin and nasobiliary drainage (NBD), none of which led to sustained improvement of pruritus. At admission his serum bilirubin concentration was 27.6 mg/dl and AP activity was 342 U/l (normal range < 129 U/l) but GGT was normal, consistent with BRIC type 2. He suffered from pruritus intensity 7/10 points on the visual analog scale (VAS). Transiugular liver biopsy confirmed bland cholestasis but neither cirrhosis nor vanishing bilie ducts. Given the refractory pruritus, we started extracorporal blood purification with plasma separation and anion adsorption. This resulted in an improvement of pruritus already on the first day (VAS decrease to 4). During the 4-month course of this therapy his pruritus decreased to < 1 and bilirubin was < 2.0 mg/dl. Currently he is symptom-free and blood tests do not indicate cholestasis.

Discussion: Invasive techniques, namely NBD or extracorporal blood purification, are known to relieve refractory cholestatic pruritus. BRIC2 is caused by dysfunction of the hepatocanalicular bile salt export pump, causing cessation of bile salt-dependent bile flow. Hence we reckon that NBD placement fails to improve cholestasis in this genetically defined subgroup of BRIC patients, and we recommend extracorporal blood purification in this situation instead.