Benign recurrent intrahepatic cholestasis type 1 (BRIC1)

BRIC1 is a hereditary liver disorder characterised by intermittent attacks of intrahepatic cholestasis, generally without progression to chronic liver damage.31,32

BRIC1 belongs to a clinical spectrum of intrahepatic cholestatic disorders that range from mild intermittent attacks to the severe, chronic and progressive cholestasis seen in progressive familial intrahepatic cholestasis (PFIC).31,32 Patients present with bouts of intense pruritus and jaundice lasting for weeks or months before resolving spontaneously, with the intervals between attacks ranging from months to years. Associated manifestations include fatigue, loss of appetite, dark urine, pale stools and hepatomegaly.3

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.)

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.