Children's Hospital Colorado

Progressive Familial Intrahepatic Cholestasis (PFIC)

What is progressive familial intrahepatic cholestasis?

Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic disease that consists of six distinct disorders that are defined by a genetic defect in bile acid transport (flow) within the liver. Bile is made in and secreted from the liver. It helps with digestion, and it helps to rid the body of toxins.

The genetic defect leads to problems with bile acid secretion, which results in abnormal bile flow, liver damage and scarring. With PFIC, the liver cannot successfully secrete the bile, which results in the buildup of bile acids in liver cells, damaging these cells and causing liver disease.

What causes pediatric PFIC?

PFIC is inherited and the result of genetic mutations within various proteins associated with bile excretion. The genes that are affected are typically needed to keep the flow of bile moving throughout the body. With PFIC, the flow of bile becomes blocked and bile builds up in the body, which damages liver cells and introduces harmful waste into the blood stream. The abnormal bile flow also prevents fats and vitamins from being effectively absorbed into the blood stream.

Who gets PFIC?

The disease occurs in infancy and childhood and affects both genders and all ethnicities. For PFIC to occur, both parents must have the same genetic mutation. If both parents have the gene, there is a 25% chance that their child will develop the disease.

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