benign recurrent intrahepatic cholestasis (BRIC, Summerskill syndrome)

Pathology

• initial elevation of serum bile acids, followed by cholestatic jaundice
• no extrahepatic bile duct obstruction

Genetics

• associated with mutation in the ATP8B1 (type 1)
• associated with defects in ABCB11 (type 2)

Clinical manifestations

• intermittent episodes of cholestasis without progression to liver failure
• initial elevation of serum bile acids, followed by
• cholestatic jaundice which generally spontaneously resolves after periods of weeks to months
• cholestatic attacks vary in severity & duration
• patients are asymptomatic between episodes, both clinically & biochemically

Laboratory

• liver function tests

More general terms

• familial intrahepatic cholestasis

Database

• OMIM: https://mirror.omim.org/entry/243300
• OMIM: https://mirror.omim.org/entry/605479