Progressive Familial Intrahepatic Cholestasis

Progressive familial intrahepatic cholestasis (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?

Progressive Familial Intrahepatic Cholestasis (PFIC) is an umbrella term for a group of rare inherited disorders that affect the way bile is produced and secreted by the liver. Each type of PFIC is caused by a mutation in a specific gene, leading to damage to different proteins involved in bile creation and transport.

Bile, a digestive fluid made by the liver, plays a crucial role in removing toxins from the body and breaking down fats in food. In people with PFIC, the liver is unable to secrete bile properly, leading to a buildup of waste products in the bloodstream. This also disrupts the body’s ability to absorb fats and fat-soluble vitamins (A, D, E, and K). Over time, the accumulation of bile in liver cells can lead to liver damage and, in severe cases, liver disease.

symptoms

Symptoms of progressive familial intrahepatic cholestasis include:

Severe itching
Difficulties gaining weight
Jaundice (yellowing of the skin and eyes)
Bleeding and poor bone growth caused by vitamin K deficiency
Inflammation of the liver and spleen
Fatigue

Severe itching (cholestatic pruritus) is one of the main symptoms experienced by patients with PFIC. Pruritus, or itching, often follows a cycle: the urge to scratch provides temporary relief, but this is often followed by an intensification of itching in the same area, leading to more scratching. This cycle can become focused in specific areas and can be difficult to break. Managing this behaviorally is a key challenge, as the itching can be extremely disruptive and may not always respond well to medications.

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: Blood tests like gamma GT (GGT) can be used to help identify the type of PFIC. Other liver enzymes, such as ALT and AST, can also be checked through blood work to assess overall liver function.
Bile acid tests: Specialized blood and urine tests measure bile acid levels. In PFIC, bile acids in the blood are typically 10-20 times higher than normal, while low levels could suggest a bile acid synthesis issue.
Liver biopsy: A small tissue sample is taken from the liver to assess the severity of the disease and help confirm the diagnosis.
Genetic testing: This can pinpoint the exact gene mutation causing PFIC, offering valuable insights into the disease’s severity and subtype. Genetic testing is usually done through a blood sample, though it may not be widely available or covered by insurance in all areas.

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.
Ileal bile acid transport (IBAT) inhibitors can be used to block bile reabsorption in the small intestine.
Ileal exclusion is a surgery that can be done to allow bile to bypass the ileum, part of the small intestine responsible for bile salt reabsorption into the bloodstream.
Odevixibat is a medication used to treat severe itching (pruritus) in PFIC patients. It works by inhibiting an enzyme that plays a role in bile acid production, thus reducing bile acid buildup and alleviating the associated symptoms.
Ursodiol (also called ursodeoxycholic acid or UDCA) is commonly used to improve bile flow and reduce liver enzyme levels in individuals with PFIC.

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?