What is PFIC?
Progressive Familial Intrahepatic Cholestasis (PFIC) is the umbrella term given to a group of conditions in which a digestive fluid, bile, is not released properly by the liver into the gut (intestinal tract). PFIC is rare – a condition affecting around 1 in 50,000-to-100,000 people.
Progressive Familial Intrahepatic Cholestasis (PFIC)
Progressive: Tending to get worse over time
Familial: Originally described in families and related to changes in genes
Intrahepatic: Involves disease inside the liver
Cholestasis: Poor bile flow and build-up of substances in the liver that would normally be carried out of the liver into bile and then the intestines
What are the signs?
- Itching (in medical terms, pruritus)
- Jaundice (yellowing of skin or eyes)
- Swollen abdomen
- Dark yellow or brown urine
- Stools that are pale, grey or white in color
- Bleeding or easy bruising
- Poor growth
- Vitamin deficiencies (A, D, E, K)
PFIC is a genetic condition caused by changes, differences or mutations in a patient’s genes. PFIC can be diagnosed in infants, young children, teens, and adults. Because PFIC is so rare, it may not be identified or diagnosed right away. Doctors use blood tests, genetic tests, scans and biopsies to help with diagnosis. Raising awareness of PFIC among healthcare professionals and the general public can help get cases accurately identified earlier so patients can begin treatment right away.
A condition with no known cure
There are several different types of PFIC. Each type is caused by a different gene mutation. Across all, the main symptoms are pruritus (itching) and jaundice (yellowing of the skin and whites of the eyes). Currently, there is no cure for PFIC. However, dietary changes, vitamins and supplements, medications and surgical interventions can reduce symptoms and complications helping patients and families manage the condition and maximize quality of life.
A Closer Look at Cholestasis
Cholestatic liver disease is a type of liver disease where cholestasis is present. Cholestasis is when the normal flow of bile from the liver is reduced or blocked. The flow of bile to the gut is one of many important functions of the liver. The cholestasis can occur both inside (intrahepatic) and outside (extrahepatic) the liver. PFIC is a cholestatic liver disease.
Here at PFIC Network, we offer a variety of educational resources designed to help families understand and overcome this complex disease.
Read on and reach out to us if you want help getting connected with our community!