5 Things You Should Know About Progressive Familial Intrahepatic Cholestasis

Progressive familial intrahepatic cholestasis (PFIC) is a progressive disease of the liver in which liver cells are less able to secrete bile. A buildup of bile leads to liver disease and liver failure resulting in the need for transplant. The disease is genetic and runs in families. It occurs in about 1 in 50,000 to 1 in 100,000 live births and is considered a rare disease.

There are three types of PFIC — PFIC1, PFIC2 and PFIC3. Each type has different symptoms and a different underlying cause. In PFIC1, also called Byler disease, people may have short stature, deafness, diarrhea, pancreatitis, and low levels of fat-soluble vitamins. People with this condition usually develop liver failure in childhood or teen years.

People with PFIC2 and PFIC3 have symptoms more closely related to liver disease and often develop liver failure early on in life. With PFIC 2 they are at risk of developing a type of liver cancer called hepatocellular carcinoma.

Mighty contributor Shannon Palmatier is the mother of two sons with PFIC. She shared her experience, writing, “There are many sleepless nights due to the ceaseless itching known as pruritis as their livers release toxins into their blood streams. It is relentless and exhausting. Evan and Camden have trouble focusing and, in our experience, often feel overly tired due to their weakened immune systems. Despite all of this, my boys have persevered. This diagnosis has never stopped them from doing what they love and participating in sports and activities with friends. We have tried to live as typical a life as possible with this chronic illness and instilled in them that PFIC does not and will not define them.”

Here are five things you should know about progressive familial intrahepatic cholestasis:

1. PFIC is caused by changes in your genes.

PFIC1 is caused by a mutation in the ATP8B1 gene, located on chromosome 18. PFIC2 is caused by mutations in the ACBB11 gene, located on chromosome 2. PFIC3 is caused by a genetic difference in the ABCB4 gene, located on chromosome 7. These genes all produce proteins that are necessary to create and transport bile throughout the body. Bile removes toxins from the body and helps to break down fat in foods. Blockages of bile in the liver mean that the toxins in bile remain in the body damaging liver cells and causing waste in the circulatory system. This long-term damage to the liver will eventually result in liver failure, requiring transplant.

2. Severe itching is one of the earliest signs of PFIC.

While everyone’s PFIC symptoms may vary depending on the type they have, severe itching can be one of the earliest signs of PFIC. Other symptoms of the rare disease can include:

Poor weight gain
Jaundice
Enlargement of the liver and spleen
Fatigue
Upset stomach, throwing up
Problems absorbing fats and fat-soluble vitamins (D, E, A, K)
Cirrhosis of the liver
Liver cancer
Gallstones

3. Diagnosis can start with a liver function test.

Though PFIC is rare, a series of diagnostic test can help doctors identify the condition and in some cases determine the type. Tests to be performed if PFIC is suspected include liver function blood tests, an ultrasound, CT scan or MRI of the liver. A liver biopsy may be performed. A test to measure bile salt level may be done. The bile salt level in people with PFIC can be measured 10 to 20 times higher than normal. Genetic testing can also help identify the gene changes (and type) of PFIC a patient may have.

4. PFIC treatments aim to prevent liver failure.

There are a variety of treatments that can reduce the symptoms of PFIC and work to prevent liver failure. Medicines to relieve the itching (pruritis) caused by the buildup of bile in the blood and skin can be given. Vitamin supplements are recommended for patients who are having problems digesting fats from their diet.

A surgery known as partial external biliary diversion (PEBD) may be discussed for patients who have not yet reached the stage of liver cirrhosis. It is a treatment to help reduce circulation of bile acids in the liver. The surgery involves taking a 10 cm length of the intestine to create a bypass for bile from the intestines. One end of the piece is attached to the gallbladder, the other end is brought through the skin to form a stoma to allow waste to pass from the body. PEBD may relieve itching and the abnormally low levels of cholesterol in the body. Depending on the severity of symptoms and if PEBD isn’t successful, some PFIC patients will need a liver transplant.

5. There are others out there who understand what it means to live with PFIC.

If you or a loved one has been diagnosed with PFIC, it can be overwhelming and may feel like you’re the only one. But you’re not alone. Because this is such a rare condition, a well-informed or specialist doctor will be your best resource for assistance. For further information you can turn to national websites like these, which are full of helpful resources:

Rare Disease