PFIC.org is a website that was built by and for PFIC patients and families. It was established to provide a resource for those with new diagnoses and for those continuing to search for treatments and solutions to the challenges of PFIC. Our mission is to improve the lives of patients and families worldwide affected by Progressive Familial Intrahepatic Cholestasis, PFIC.
What is PFIC?
The name PFIC was coined in the early 1980’s to describe a form of liver disease that primarily affects children. Taken word for word, it means: Progressive: tending to get worse over time; Familial: passed down to a child from the parents by way of the genes; Intrahepatic: involves disease inside the liver and not the bile ducts outside the liver; Cholestasis: means poor bile flow and build-up of substances in the liver that would normally be carried out of the liver into bile.
A number of medical terms have been used to describe PFIC patients. “Byler’s disease” was used for Amish children with PFIC, in whom “PFIC” was first identified. Three types of PFIC have been labeled as PFIC-1, PFIC-2 and PFIC-3, although since we now understand these conditions at a genetic level, these terms are being used less and less. In recent years, it has been discovered that many patients with PFIC have mutations in one of three genes named ATP8B1, ABCB11, and ABCB4
Mutations in these genes lead to a failure to make normal versions of these proteins and thereby cause PFIC in many patients. As a result, we think of PFIC as a family of diseases that look very similar but have different genetic causes. Thus PFIC-1 is referred to as FIC1 (familial intrahepatic cholestasis 1) deficiency or ATP8B1 deficiency, PFIC-2 is referred to as BSEP (bile salt export pump) deficiency or ABCB11 deficiency, and PFIC-3 as MDR3 (multidrug resistance-associated protein 3) deficiency or ABCB4 deficiency. Recently, a new gene, TJP2 has been implicated in patients with PFIC. There are a wide variety of specific genetic mutations that lead to these diseases. Mutations that lead to a protein that is not formed or does not function results in severe disease. There are mutations that lead to partially functional proteins and in general the disease associated with these mutations is milder and some can even be intermittent in nature. The intermittent forms of this disease are often referred to as BRIC, which stands for benign recurrent intrahepatic cholestasis.
PFIC effects <1 in 100,000 people worldwide.
PFIC.org is a website that was built by and for PFIC patients and families and supporters.
We are a resource for those with new diagnoses and for those continuing to search for treatments and solutions to the challenges of PFIC.
Our mission is to improve the lives of patients and families worldwide affected by Progressive Familial Intrahepatic Cholestasis, PFIC. We support research programs, provide educational materials, match families for peer support, and participate in advocacy opportunities.
