About PFIC
Progressive familial intrahepatic cholestasis (PFIC) is a spectrum of rare, genetic disorders that can cause liver damage and severe itching.
One of the most common symptoms of PFIC is bothersome itching known as pruritus. Itching can be difficult to treat, but relief may be possible.
Progressive
Can get worse over time
Familial
Genetic, so it can run in families
Intrahepatic
Inside of the liver
Cholestasis
(pronounced koh-le-STAY-sis) The flow of bile is slowed or blocked
What causes PFIC?
PFIC is an inherited condition.
Everyone has 2 copies of a gene, but only 1 gets passed down to children by each parent. When someone carries the PFIC gene, 1 gene copy is healthy and 1 gene copy is changed.
Most people with PFIC have changes in both copies of a PFIC gene, increasing their risk of developing cholestasis.
Genetics can be complex and confusing, and it’s understandable if you still have questions. If you would like to learn more, talk to your doctor.
PFIC is an inherited condition.
Everyone has 2 copies of a gene, but only 1 gets passed down to children by each parent. When someone carries the PFIC gene, 1 gene copy is healthy and 1 gene copy is changed.
Most people with PFIC have changes in both copies of a PFIC gene, increasing their risk of developing cholestasis.
Genetics can be complex and confusing, and it’s understandable if you still have questions. If you would like to learn more, talk to your doctor.
How common is PFIC?
Around 1 in 50,000 to 100,000 newborns have PFIC.
How PFIC is passed down
For an individual to have PFIC, typically both parents must carry a changed PFIC gene and pass down that changed gene.
However, recent literature also suggests PFIC may potentially be inherited with just 1 changed gene.
PFIC is a condition that is passed down from parents to children through their genes. Genes are pieces of DNA that decide many of your physical characteristics, like height or eye color. They provide the blueprint for your body and influence how it works.
We all have 2 copies of every gene, but only 1 gets passed down to our children. When someone carries the PFIC gene, 1 gene copy is healthy, and 1 gene copy is changed. A changed gene is sometimes referred to as a “mutated” gene.
The changed gene that causes PFIC is randomly passed down from parents to children. There are 4 possible outcomes every time parents carrying a changed PFIC gene have a child.
PFIC is an autosomal recessive disease. That means parents who carry the changed gene can still pass PFIC down to their children even if they don’t have symptoms themselves.
Genetics can be complex and confusing, and it's understandable if you still have questions. If you would like to learn more, talk to your doctor.
How common is PFIC?
Around 1 in 50,000 to 100,000 newborns have PFIC.
PFIC is a rare disease, but resources and support are available
What happens in the liver that causes symptoms of PFIC?
With PFIC, genetic changes affect how bile is created or released in the liver.
This can cause buildup of bile acids in the liver and can lead to liver injury. Bile acids may also spill into the bloodstream.
The buildup of bile acids in the liver and the bloodstream may be one cause of itch (pruritus) in PFIC.
PFIC is a progressive disease
“Progressive” means that PFIC may get worse over time.
How can I have better conversations with my doctor about PFIC?
The doctor discussion guide includes questions to ask your doctor to help you make the most of your conversation at your next visit.
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Pruritus, or itch, can be one of the most burdensome symptoms of PFIC
Pruritus, or itch, can be one of the most burdensome symptoms of PFIC
A deeper look at PFIC
In this 30-minute webinar, Brent, father to Adam who is living with PFIC, joins Dr. Balistreri, a pediatric gastroenterologist, for a thoughtful conversation about life with PFIC.
Together, they unpack the journey of a PFIC diagnosis—understanding the underlying science and talking about its effects on daily life.
