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Progressive Familial Intrahepatic Cholestasis (PFIC)

What Is Progressive Familial Intrahepatic Cholestasis (PFIC)?

Progressive familial intrahepatic cholestasis (PFIC) is a rare inherited condition. In PFIC children are not able to drain bile from the liver even though the large bile ducts are open (cholestasis). This gets worse over time.

PFIC is the result of a gene mutation. There are a few different type of gene mutations that can cause PFIC. Each mutation has different effects on the body. In some of the mutations, the liver, lung, intestine and ears can be affected.

Causes

PFIC is caused by defects in several genes. These genes produce proteins needed to form bile and to "transport" or keep the flow of bile throughout the body.

Bile is a liquid made in the liver that removes toxins from the body. It also helps break down fat in food. The bile ducts are vital because they carry bile out of the liver.

A blockage of bile in the liver or bile ducts means that toxins in bile remain in the body. This damages liver cells and causes a harmful buildup of waste in the blood stream. Decreased bile flow also prevents the body from being able to absorb fats and vitamins as it should.

Each person is born with many genes that make up their body. These genes are passed on to them (inherited) from their parents. PFIC is an inherited condition and does not appear unless a person receives the same flawed gene from both parents. If both parents carry a flawed gene for PFIC, there is:

  • A 25 percent chance their child will develop the disorder
  • A 50 percent chance their child will receive one flawed gene from one of the parents. This means the child will not show symptoms of the disorder but is a "carrier"
  • A 25 percent chance their child will receive both normal genes, one from each parent. They will not be affected

Signs and Symptoms

  • Severe itching caused by the buildup of bile salt in the body (pruritus)
  • Poor weight gain (due to a lack of bile needed to digest and absorb fat) and poor growth
  • Jaundice (yellowing of the skin)

Other symptoms may include:

  • Enlargement of the liver and spleen that is not normal
  • Fatigue (tired all of the time)
  • Poor feeding, upset belly, and throwing up

Problems that may arise include:

  • Problems absorbing fats and fat-soluble vitamins (D, E, A, K)
  • Failure to thrive
  • Cirrhosis within five to 10 years, with liver failure
  • Liver cancer
  • Gallstones in the gallbladder

Diagnosis

To tell if a patient has PFIC, some tests need to be done.

  • Liver function tests are blood tests used to check the state of the liver or biliary system.
  • Gene test to determine if the patient is a carrier of one of the mutations that cause one of the forms of PFIC.
  • Ultrasound, CT Scan or MRI may be done to check the liver or biliary system.
  • A liver biopsy may be done to check the liver tissue.
  • A highly specialized test measuring bile salt levels may be done to pinpoint PFIC. The total bile salt concentration in people with PFIC is 10 to 20 times higher than the normal level.

There are several sub-groups of PFIC Different genes have been found to cause slightly different forms of PFIC. When your child is diagnosed with one of the sub-groups of PFIC, your health care provider will explain in detail the defect and how it effects the body.

Treatment

Some patients may respond to medical therapy, but surgery is most often needed for survival.

Surgery methods used in children with PFIC includes liver transplant for cirrhosis and partial external biliary diversion (PEBD).

Liver Transplant

A liver transplant may be used if PEBD is not effective or if the patient has liver cirrhosis.

Most PFIC disorders progress to end-stage liver disease and require a liver transplant. Treatment focuses on minimizing growth failure and decreasing discomfort as the child waits for a liver transplant. Survival rates for liver transplant to treat PFIC are excellent.

Partial External Biliary Diversion (PEBD)

PEBD may be used as the first choice of treatment for patients who have not yet developed cirrhosis. This treatment helps reduce circulation of bile acids in the liver. This reduces problems and prevents the need for early transplant in many patients.

This surgery involves isolating part of intestine (10 cm long) for use as a biliary conduit (a channel for the passage of bile) from the rest of the intestine. One end of the conduit is attached to the gallbladder. The other end is brought out to the skin to form a stoma. A stoma is an opening made through surgery that allows waste to pass out of the body.

PEBP is used for patients who do not respond to all medical therapy, especially older, larger patients. This procedure may not be of help to young patients, such as infants. PEBP may decrease how intense the itching is and the abnormal, low levels of cholesterol in the blood.

Medicines to Treat Symptoms of Progressive Familial Intrahepatic Cholestasis

In most cases of PFIC, the biggest issue is pruritus (itching). This itching is caused by the buildup of bile in the blood and skin. Medicine may be used to relieve the severe itching and to improve bile flow.

Vitamin Supplements

Reduced bile flow can lead to problems digesting fat and vitamins from a child's diet. Fat-soluble vitamin supplements (A, D, E and K) may be used.

Last Updated 09/2021

Reviewed By Laura Hatcher, APRN, CNP