Benign recurrent intrahepatic cholestasis type 1

Benign recurrent intrahepatic cholestasis type 1 (BRIC1), also known as Summerskill syndrome, is a rare inherited liver disorder characterized by recurrent episodes of intrahepatic cholestasis (impaired bile flow within the liver) that resolve spontaneously without causing permanent liver damage. BRIC1 is caused by mutations in the ATP8B1 gene, which encodes a protein (FIC1) involved in bile salt transport and maintaining the integrity of the bile canalicular membrane. BRIC1 represents the milder end of the spectrum of ATP8B1-related liver disease, with progressive familial intrahepatic cholestasis type 1 (PFIC1, or Byler disease) being the severe form. Episodes of cholestasis typically begin in childhood or early adulthood and can last from weeks to months. During episodes, patients experience intense pruritus (itching), jaundice (yellowing of the skin and eyes), dark urine, pale stools, fatigue, and malaise. Elevated serum bile acid levels and conjugated bilirubin are characteristic laboratory findings during attacks, while gamma-glutamyltransferase (GGT) levels remain normal or only mildly elevated. Between episodes, liver function tests typically return to normal, and the liver architecture remains preserved without progression to fibrosis or cirrhosis. Treatment is primarily supportive and aimed at symptom relief during cholestatic episodes. Ursodeoxycholic acid (UDCA) may be used to alleviate pruritus and improve bile flow, though its efficacy varies among patients. Cholestyramine and other bile acid sequestrants can help manage itching. Rifampicin has also been used as an antipruritic agent. In severe or prolonged episodes, nasobiliary drainage has been reported to provide relief. The long-term prognosis is generally favorable, as the condition does not lead to progressive liver disease, though recurrent episodes can significantly impact quality of life.

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