The first new drug for progressive familial intrahepatic cholestasis

Abstract

Progressive familial intrahepatic cholestasis (PFIC) is a group of rare genetic liver diseases that cause substantial morbidity and mortality. The common symptoms of PFIC include jaundice, pruritus, and growth failure due to excessive concentrations of bile acids in circulation and the liver, yet insufficient bile excretion into the intestine. Consequently, patients develop progressive liver fibrosis or cirrhosis and associated complications including hepatocellular carcinoma.1,2 Although its molecular mechanisms and pathophysiology has been extensively studied in clinical and animal studies, no specific drug therapies indicated for PFIC were available.