Benign recurrent intrahepatic cholestasis type 2 (BRIC2)

BRIC2 is a hereditary liver disorder characterised by intermittent attacks of intrahepatic cholestasis, generally without progression to chronic liver damage.31,32

BRIC2 is caused by mutations in the ABCB11 gene encoding the BSEP protein. Clinically BRIC2 is very similar to BRIC1, being also characterised by the occurrence of intermittent cholestatic attacks of varying severity and duration that do not progress to hepatocellular insufficiency.4

Diagnosis

Diagnosis is confirmed by molecular genetic testing.3,31,32

3. Orphanet: The portal for rare diseases and orphan drugs. 2020. at https://www.orpha.net/consor/cgi-bin/Disease.php?lng=EN.)

4. Protocole national de diagnostic et de soins : Déficits de synthèse des acides biliaires primaires. Centre de Référence Coordonnateur de l’Atrésie des Voies Biliaires et des Cholestases Génétiques; 2019.

31. Srivastava A. Progressive familial intrahepatic cholestasis. J Clin Exp Hepatol 2014;4:25-36.

32. Sticova E, Jirsa M, Pawłowska J. New Insights in Genetic Cholestasis: From Molecular Mechanisms to Clinical Implications. Can J Gastroenterol Hepatol 2018;2018:2313675.