What Is Progressive Familial Intrahepatic Cholestasis?

Progressive familial intrahepatic cholestasis (PFIC) is a group of inherited conditions caused by a faulty gene.

In children with PFIC, cells in the liver can't release bile — a fluid that helps the body digest food.

As a result, bile builds up in the liver, leading to symptoms such as:

  • Jaundice.
  • Itching.
  • Impaired growth.
  • Delayed puberty.

There are several types of PFIC, each caused by a different genetic defect.

What Does PFIC Mean?

  • Progressive: the disease gets worse over time.
  • Familial: it runs in families.
  • Intrahepatic: it occurs inside the liver.
  • Cholestasis: it causes poor bile flow.

Children are typically less than 6 months old when diagnosed with PFIC. 

Your Child's Progressive Familial Intrahepatic Cholestasis Consult and Care: What to Expect

If a doctor diagnosed your child with PFIC, we want you to know that you aren’t alone. The Center for Rare Disease Therapy (CRDT) at UPMC Children’s Hospital of Pittsburgh is here to help.

To make an appointment for your child or refer someone for PFIC care, contact us:

Here’s what you can expect when you come to us for a consult.

How soon can I make an appointment at the CRDT for my child’s PFIC?

We’ll schedule an appointment with one of our children’s liver experts within a reasonable time based on your child’s condition.

We’ll ask your child’s referring doctor for a copy of their medical records.

Reading through your child’s records helps us:

  • Decide how soon we should see your child based on their health.
  • Avoid repeating tests that your child has already had.
  • Plan visits with other specialists as needed.

What should I expect at my child’s first visit for PFIC care?

Your first visit will take three or four hours.

Your child will receive a complete assessment from one of the center's doctors.

The doctor will make or confirm a PFIC diagnosis and find out how much the disease has progressed.

Because we work as a team at the center, other doctors and staff might see your child during your visit.

These may include a:

  • Neurologist.
  • Heart doctor.
  • Surgeon.
  • Nutritionist.
  • Genetic counselor.
  • Psychologist.
  • Child development specialist.

What are the next steps after my child's PFIC visit to the Center for Rare Disease Therapy?

Members of your child's care team will talk with you about:

  • Likely next steps for your child.
  • PFIC treatments.
  • Ways to help your child's quality of life at home.

By the end of your visit, you'll have a PFIC care plan tailored to your child's needs. We'll also schedule a follow-up visit.

You'll meet our nurse practitioner. You can contact them by phone or video conference with any concerns before your next visit.

Before you leave, please ask us about your child's PFIC, treatment, or anything else on your mind.

How long will I need to wait for my child's PFIC test results?

If your child has testing during their first visit, we'll call within two weeks. We’ll talk through the test results, answer any questions, and discuss the next steps for your child's PFIC care.

You can also find your child's test results if you have a MyCHP account — Children's patient portal.

MyCHP lets you manage your child's health online. It's free for kids getting treatment at UPMC Children's and their loved ones.

Partners in Your Child's PFIC Care

A child with a rare disease like PFIC affects the whole family. We see each family member as our partner at the CRDT.

The best care happens when we merge our PFIC expertise with your knowledge of your child's needs.

Center for Rare Disease Therapy patient stories

Meet Our CRDT Patients

Learn how others are finding help and hope for their child’s rare disease through the expertise at UPMC Children’s.

View Center for Rare Disease Therapy patient stories »

Contact Us

At the Center for Rare Disease Therapy, every child diagnosed with a rare disease receives an individualized treatment plan and family-centered care.

For an appointment, consultation, or patient referral with an expert at UPMC Children’s Hospital of Pittsburgh for a child diagnosed with PFIC, please fill out our contact form and we will be in touch within two business days.

Phone: 412-692-7273
Email: RareCare@chp.edu