Progressive Familial Intrahepatic Cholestasis

Progressive Familial Intrahepatic Cholestasis (PFIC) is a group of genetic (inherited) conditions which affect the patient’s liver and bile ducts.

The condition is caused by defective genes that create cholestasis – when bile cannot flow from the liver. This causes a buildup of bile in the liver, which damages this vital body organ and can result in scarring of the liver (cirrhosis) and eventually liver failure. Decreased bile flow also prevents the body from being able to absorb vitamins and fats.

There are four identified Types of this disorder, each with its own characteristics:

• Type 1 (ATP8B1 deficiency; Byler disease)
• Type 2 (ABCB11 deficiency)
• Type 3 (ABCB4 deficiency)
• Type 4 (TJP2 mutation)

There are likely to be additional genes that can cause this condition, since some patients with clinical progressive familial intrahepatic cholestasis don’t appear to have problems with the 4 genes already identified. About one in 50,000 to 100,000 people are born with PFIC, making it a rare condition. Both males and females seem to be equally affected.

At SSM Health Cardinal Glennon Children’s Hospital, our team of experts is passionate about helping children with liver conditions live long, healthy lives and is committed to offering the latest advancements in care. If your child has been diagnosed with pediatric PFIC, call us today at 314-268-4010 to schedule an appointment to learn how we can help.

Symptoms of Pediatric Progressive Familial Intrahepatic Cholestasis

The signs of PFIC usually develop before age 2, and the condition may get worse quite quickly. Type 3 usually presents the earliest. There is a smaller group of children who show signs later (as late is the teen years); the condition tends to progress much more slowly in this group – though nearly all patients with PFIC will need treatment before age 30.

For those that exhibit symptoms, these are the most common:

• Yellowing of the skin and whites of the eyes (jaundice)
• Poor weight gain/growth
• Severe itching (caused by buildup of bile salt in the body; pruritus)
• Enlarged liver or spleen
• Fatigue

Patients often develop cirrhosis with 5 to 10 years from the onset of the disease. Gallstones may develop in some patients as well.

Diagnosis of PFIC

In addition to physical examination, one or more blood tests that measure various liver enzymes and antibodies may be used to help diagnose PFIC. Your doctor may also order additional tests to look for other liver conditions that have similar symptoms, as well as recommending imaging tests or a liver biopsy so that he or she can examine your child’s liver tissue more closely.

A highly specialized test to measure bile sale levels may be done to confirm diagnosis, since PFIC patients have 10 to 20 times higher concentrations of these salts.

Treating Progressive Familial Intrahepatic Cholestasis in Children

There is no cure for PFIC, but when diagnosed early the condition can be monitored and medicines can be used to address the most severe symptoms (such as itching). Surgery may be recommended as part of a treatment plan. Avoiding substances known to cause liver damage, as well as nutrition management and vitamin supplements to ensure children get the proper nutrients, are other essential steps for people with this condition.

Liver Transplant

Most PFIC patients will eventually progress to end-stage liver failure, with the next treatment option being liver transplantation. Fortunately, this group of patients has an excellent long-term outlook.

We understand that learning your child has Progressive Familial Intrahepatic Cholestasis or any chronic medical condition can be a very stressful time for your family. That’s why our SLUCare Physician Group surgeons at Cardinal Glennon Children’s Hospital are here to support you every step of the way. Call us today at 314-268-4010 to schedule an appointment or to request a second opinion.