Progressive Familial Intrahepatic Cholestasis (PFIC)

What is it?

PFIC is a rare and inherited condition as a result of a gene mutation. Bile is unable to drain from the liver, even though the large bile ducts are open, causing bile to build up in liver cells.


  • PFIC is a group of inherited diseases caused by altered genes (mutations).
  • A buildup of bile acids in the liver causes damage to the liver cells. It is not necessarily bile and many of these patients have normal bilirubin

Signs and Symptoms

  • Itching
  • Poor weight gain
  • Jaundice
  • Bleeding caused by vitamin K deficiency
  • Poor bone growth caused by vitamin D deficiency
  • Enlargement of the liver and spleen
  • Fatigue
  • Poor feeding, throwing up, diarrhea

Problems that may be result of PFIC:

  • Failure to grow
  • Vitamin deficiencies
  • Cirrhosis
  • Liver cancer
  • Gallstones


  • Blood tests
  • Ultrasound, CT scan or MRI
  • Liver biopsy
  • Genetic testing


  • Treatment mainly focuses on minimizing growth failure and decreasing discomfort.
  • Supplemental and fat-soluble vitamins are often recommended.
  •  Odevixibat is approved for itching in PFIC
  • Treatments target symptomatic relief with the use of medications that can increase bile flow. A liver transplant may be needed.

The ABC's of PFIC

In this webinar, Dr. Udeme Ekong from Yale Medicine discusses the basics of progressive familial intrahepatic cholestasis (PFIC), including what it is, the types of PFIC, and the physician experience working with PFIC patients. The webinar was made possible through a grant from Albireo Pharm.  ALF is solely responsible for its content.

Learn more about Progressive Familial Intrahepatic Cholestasis here.

Last updated on August 16th, 2023 at 01:10 pm

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