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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:
There are several types of PFIC, each caused by a different genetic defect.
Children are typically less than 6 months old when diagnosed with PFIC.
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.
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:
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:
Members of your child's care team will talk with you about:
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.
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.
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.
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 »
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
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh One Children’s Hospital Way 4401 Penn Ave. Pittsburgh, PA 15224
In addition to the main hospital, Children's has many convenient locations in other neighborhoods throughout the greater Pittsburgh region.
With MyCHP, you can request appointments, review test results, and more.
For questions about a hospital bill call:
To pay your bill online, please visit UPMC's online bill payment system.
Interested in giving to Children's Hospital? Support the hospital by making a donation online, joining our Heroes in Healing monthly donor program, or visiting our site to learn about the other ways you can give back.