LEARN ABOUT PFIC

What is PFIC?

Progressive Familial Intrahepatic Cholestasis (PFIC) is a general term that represents a group of rare genetic (inherited) disorders that cause a progressive (increasingly severe) liver disease and can lead to cirrhosis and end-stage liver disease. There are over 6 different types of PFIC. While the different types of PFIC have overlapping symptoms, each one is unique and can differ in disease presentation and prognosis. Often the hallmark feature of this disorder is severe and debilitating pruritus (itching). The disease typically presents in infancy or early childhood. The exact prevalence is unknown, but PFIC is estimated to affect 1 in 50,000-100,000 people worldwide. There is currently no cure for PFIC and related diseases.

Click on the topics below to learn about PFIC, including diagnosis, genetics and possible treatments.

The Basics

Learn about the basics of liver disease. What do bile, bile acids and cholestasis have to do with PFIC?.

The Itch

Cholestatic pruritus, also known as itching, is one of the defining symptoms of cholestasis in many patients.

Types And Subtypes

The 6+ different subtypes of PFIC involve mutations of different genes and proteins.

Diagnosis

Diagnostic tests are used to identify PFIC and potentially determine which type of PFIC is present.

Treatment

There are different treatments which depend on the severity, subtype of PFIC and the type(s) of symptoms.

The Genetics

Basic overview of genetics and a closer look at the genetics of PFIC by subtype.

Educational Brochures

A resource for PFIC patients and families that was created to help understand the PFIC diagnosis and terminology.

Educational Webinars

View a series of educational webinars to better understand the PFIC diagnosis, genetics and treatment options.

PFIC IMPACT: Treatment Experience App

The PFIC IMPACT:TEA was designed by PFIC families and clinicians as a living resource to provide information about PFIC treatments and patients’ experiences with them.

To learn even more about PFIC:

Want to dive deeper into the science and research around PFIC? Check out our Science and Research page or read articles from our PFIC Research Library. The Research Library contains scientific articles about PFIC and related diseases that have been summarized by a committee of experts and reviewed by our Medical Advisory Board.

Learn about PFIC