Progressive Familial Intrahepatic Cholestasis

Progressive familial intrahepatic cholestatis (PFIC) is a rare inherited condition caused by a mutation in a gene affecting the ability of bile to drain from the liver.

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what is progressive familial intrahepatic cholestasis?: Learn what defines progressive familial Intrahepatic cholestasis and what its general consequences are.
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symptoms: Learn about the symptoms of progressive familial Intrahepatic cholestasis, how to recognize them, and what to do if you experience them.
lifestyle impacts: Find out how progressive familial intrahepatic cholestasis impacts your lifestyle.
what can I do?: Discover management and treatment strategies for progressive familial intrahepatic cholestasis.
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what is progressive familial intrahepatic cholestasis?

Progressive familial intrahepatic cholestasis (PFIC) is a rare hereditary disease in which the liver cells struggle to produce and secrete bile. Bile (the digestive fluid made by the liver) plays important roles to help remove toxins from the body and to break down fat in food. Patients with this condition are unable to secrete bile properly causing the buildup of waste in the blood stream, and the body’s inability to absorb fats and fat-soluble vitamins (A, D, E, K) properly. The buildup of bile in liver cells can also cause liver damage and severe liver diseases.

lifestyle impacts

Patients with progressive familial intrahepatic cholestasis generally affects infants and children causing patients to have difficulties growing and gaining weight also known as failure to thrive. This can result in developmental delays, learning disabilities, and behavioral issues later in life.

what can I do?

prevention

Progressive familial intrahepatic cholestasis is an inherited disease and therefore cannot be prevented.

diagnosis

Diagnostic methods for progressive familial intrahepatic cholestasis include:

Blood tests to check the state of the liver and the biliary system (gallbladder and bile ducts).
Imaging tests such as ultrasounds, CT scans or MRIs
Liver biopsy
Genetic testing

treatment

Treatment for progressive familial intrahepatic cholestasis focuses on limiting growth failure and managing symptoms and discomfort. These treatment options include:

Vitamin supplements can be taken in order to replenish the vitamins A, D, E, and K that are not being properly absorbed by the body through the bile.
Odevixibat can be used to treat severe itching.
Ursodiol (also called ursodeoxycholic acid or UDCA) reduces elevated liver enzymes by easing bile flow through the liver.

additional resources

Here are a few questions to ask your doctor or medical team:

What is the status of my liver?
What treatments are available to manage my symptoms?
What lifestyle changes should I make to improve my liver condition?
Is my child at risk of having progressive familial intrahepatic cholestasis?