Progressive Familial Intrahepatic Cholestasis (PFIC)

Progressive familial intrahepatic cholestasis, or PFIC, is a group of rare liver diseases caused by a problem in how the liver releases bile.

About Progressive Familial Intrahepatic Cholestasis in children

In a healthy liver, the liver cells make bile and release it into bile ducts which empty into the small intestine where it digests food. In all forms of PFIC, the bile cannot get released from the liver and builds up, causing damage to the liver. PFIC is a genetic disease meaning it is passed on to children in their DNA and runs in families. While there are differences between the types of PFIC, there are many similarities in the symptoms and diagnosis. Below we discuss the three most common forms of PFIC.

PFIC1

Patients with PFIC1, also known as Byler disease, develop jaundice and portal hypertension in early childhood. Also, they may have symptoms not related to the liver, such as diarrhea, problems with the pancreas, deafness, and poor growth. There is no risk of liver tumors in patients with PFIC1 unless they develop severe scarring, or cirrhosis.

PFIC2

PFIC 2 is more severe than PFIC1. It usually starts in infancy and children have severe liver disease in the first few years of life. The symptoms of itching and jaundice are often very severe. In addition, they have a higher risk of certain types of cancers and require close monitoring.

PFIC3

Most children with PFIC3 develop symptoms late in infancy, although some do not have symptoms until they are teenagers. This is a less severe form of disease but can still lead to many problems. There is a mild increase in the risk for liver tumors in children with PFIC3, but they do not often have symptoms outside of those caused by their liver.

There is a range of symptoms and severity within each form of progressive familial intrahepatic cholestasis and it is hard to predict how a patient will do long term. Each patient requires close monitoring and continued treatment to ensure the best outcome possible.

What are the symptoms of Progressive Familial Intrahepatic Cholestasis?

The symptoms and complications of PFIC are due to the build-up of bile called cholestasis. As bile builds-up it can lead to a yellowing of the skin called jaundice, and itching of the skin called pruritus. The amount and timing of these symptoms depend on which PFIC is present. Other symptoms may include a large liver called hepatomegaly, increased blood pressure in the liver called portal hypertension, and increased risk of bleeding. Other patients have poor growth, diarrhea, and vitamin deficiencies because bile is important to digest vitamins and other nutrients from food.

How is Progressive Familial Intrahepatic Cholestasis diagnosed in children?

Blood tests can be helpful in the diagnosis of PFIC as well as monitoring the amount of liver injury and checking its function. Imaging such as an ultrasound or special MRI can also be useful in understanding what is happening in the liver. Sometimes a liver biopsy (en Español) is needed to diagnose PFIC because it allows the doctor to look at the liver cells under a microscope and to do special tests on the liver cells. Genetic testing is the final test for PFIC.

What is the treatment for Progressive Familial Intrahepatic Cholestasis?

The treatment for PFIC is mostly supportive, meaning the goal is to decrease the itching and complications from the disease such as bleeding or poor growth. There are some medicines and surgeries that can help to decrease the bile build-up. Some patients will need a liver transplant if the liver injury is severe.

What is the long-term outlook of Progressive Familial Intrahepatic Cholestasis?

The long-term outcome for patients with PFIC depends on the type of PFIC and the severity of the symptoms.