PFIC

Progressive familial intrahepatic cholestasis

Progressive familial intrahepatic cholestasis (PFIC) is the name given to a group of conditions in which a digestive fluid, called bile, is not released properly from the liver into the gut (gastrointestinal tract).

The information on this page is for:

Parents of children with PFIC or suspected PFIC.
Young people with PFIC.
Family, friends, carers, and healthcare professionals.

How to say it:

Progressive: pruh-GREH-siv

familial: fuh-MIH-lee-ul

intrahepatic: IN-truh-heh-PA-tik

cholestasis: koh-leh-STAY-sis

Quick Summary

PFIC is the name given to a group of conditions in which a digestive fluid, called bile, is not released properly from the liver.
PFIC is rare and affects around 1 in 50,000 to 1 in 100,000 people.
PFIC is a genetic condition. This means it is caused by changes (mutations) in a person’s genes.
PFIC is usually diagnosed in infants and toddlers, but a diagnosis can take time.
Blood tests, scans and biopsies may be used to help with diagnosis.
There are different types of PFIC with different levels of severity.
The main symptoms of PFIC are itching (pruritus) and yellowing of the whites of the eyes and skin (jaundice).
Currently there is no cure for PFIC. However, dietary support, medicines and surgery can reduce the symptoms and complications.
Many children with PFIC will need a liver transplant at some point in their life.

Find out more about PFIC using the links below.

Find out more

What is PFIC?

Diagnosis

Complications

Causes

Symptoms

Treament

Download booklet

Useful words

Ascites – a build up of fluid in the tummy

Bile – a green/yellow liquid that helps digest fat

Cholestasis – a condition where the flow of bile is reduced

Genes – the body’s instructions

Genetic condition – any medical condition caused by a problem with someone’s genes

Jaundice – a condition where the skin or eyes turn yellow

Portal hypertension – high blood pressure in the portal vein

Pruritus – a medical word for itching

Useful words glossary

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This content was last reviewed: March 2024

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We would like to thank everyone who helped with creating and reviewing this page. This information has been produced with input from the three specialist paediatric liver centres in the UK. And with parents and families.

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Everyone’s experience of liver disease will be different. Always talk to your specialist medical team for personal advice.