/benign recurrent intrahepatic cholestasis type 1

benign recurrent intrahepatic cholestasis type 1

Rare Disease

MONDO:0009469

Also Known As

cholestasis, benign recurrent intrahepaticATP8B1 benign recurrent intrahepatic cholestasisBRIC1Bric type 1benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1cholestasis, benign recurrent intrahepatic, type 1Summerskill syndromebenign recurrent intrahepatic cholestasis 1cholestasis, benign recurrent intrahepatic 1cholestasis, benign recurrent intrahepatic, 1mild ATP8B1 deficiencyrecurrent familial intrahepatic cholestasis 1

Definition

Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity.