Progressive Familial Intrahepatic Cholestasis

What is progressive familial intrahepatic cholestasis?

Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic condition that usually presents early in infancy. Children with PFIC are unable to effectively drain bile from the liver and this accumulation of bile can cause liver disease.

PFIC is a progressive condition and symptoms may vary. Children with PFIC will require treatment from experts in gastroenterology (GI) and hepatology.

In some cases, PFIC may lead to cirrhosis and liver failure. There are three types of PFIC: PFIC1, PFIC2, and PFIC 3, each with a different genetic mutation.