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The Real Agony
is Beneath the Surface

Although PFIC is rare, it is important to remember that you are not alone. Listen to the experiences of Season, whose daughter Sylvie was diagnosed with PFIC.

The Real Agony
is Beneath the Surface

Although PFIC is rare, it is important to remember that you are not alone. Listen to the experiences of Season, whose daughter Sylvie was diagnosed with PFIC.

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Progressive familial intrahepatic cholestasis (PFIC) is a rare genetic liver disease that affects infants and children. In many cases, patients diagnosed with PFIC experience end-stage liver disease by 10 years old.1 A serious consequence of PFIC is severe itching that can lead to sleepless nights for the whole family. If left unprotected, babies may even scratch through their skin causing bleeding, scabs, and wounds.

Understanding PFIC

In PFIC, the liver is unable to excrete bile acids as the result of a genetic defect, so they accumulate to high levels in the liver and in the bloodstream. This causes symptoms, such as jaundice (yellowing) and pruritus (severe itching), as well as other symptoms of progressive liver disease. Patients with progressive liver disease may have difficulty removing toxins from the blood and clotting. An inability to excrete bile acids can also lead to fat malabsorption, failure to thrive, and deficiencies in vitamins A, D, E, and K.2 The disease is estimated to impact one in every 50,000 to 100,000 children born worldwide.3

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What Happens with PFIC

PFIC can cause signs and symptoms that may vary by person. Here are some that parents and physicians have described:

Severe itching (pruritus). Severe itching is the most disruptive symptom in the day-to-day lives of children with PFIC. It can cause sleepless nights and daytime fatigue. Children may not even be able to focus at school. And when children can’t sleep, parents do not sleep, either. Continuous scratching and scabs that are left behind can lead to poor self-esteem and social challenges. A common cold or feeling hot (from exercise or weather) may worsen the itching.

Nutritional problems. People with PFIC have difficulty absorbing fat-soluble vitamins, such as vitamins A, D, E and K. As a result, they may have poor growth and development, as well as reduced immune system function.4

Liver problems. The accumulation of bile acids damages the liver over time. In the early stages, children can appear jaundiced, or yellow in color. Many people with PFIC will suffer from end-stage liver disease by the age of 10.1 Only one third of people with PFIC reach adulthood with their native liver.5

Download an educational brochure on PFIC

“There’s no way of mentally grasping PFIC. It’s like walking into a tornado. In the beginning we got no more than two hours of sleep each night. Nothing helped the itching. We would dress her in a full-body onesie, and if we took it off, she would scratch until she bled. We wanted to do everything we could before we had the transplant.”

Brooke, whose daughter Trinity is living with PFIC.

PFIC Clinical Trials | Committed to Making a Difference

Albireo is committed to advancing science and drug development with the goal of making a difference in the lives of those families affected by PFIC. As part of this commitment, Albireo is sponsoring the PEDFIC Phase 3 clinical trial program to evaluate a potential treatment for this disease. To learn more about this study, please visit or contact Albireo Medical Information (857.378.2035).

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Hope for Patients and Families

Research is underway, seeking better treatment options for people with PFIC, and resources are available to help patients and families.

PFIC Advocacy and Resource Network aims to improve the lives of patients and families worldwide affected by PFIC.

Childhood Liver Disease Research Network (ChiLDReN) offers medical and patient advocacy support with clinical sites and research labs in the U.S.

Children’s Liver Disease Foundation (CLDF) is a UK-based charity dedicated to pediatric liver diseases. Download the CLDF PFIC brochure here: provides the public with information on clinical studies on a wide range of diseases and conditions, including PFIC.

Global Genes is an advocacy organization committed to supporting the rare disease community.

American Liver Foundation (ALF) is a national, voluntary nonprofit organization dedicated to the prevention, treatment, and cure of hepatitis and other liver diseases through research, education, and advocacy.


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  1. Mehl A, Bohorquez H, Serrano MS, et al. Liver transplantation and the management of progressive familial intrahepatic cholestasis in children. World J Transplant. 2016;6(2):278-90.
  2. Baker A, Kerkar N, Todorova L. Et al. Systematic review of progressive familial intrahepatic cholestasis. Clin Res Hepatol Gastroenterol. 2019;43(1):20-36.
  3. Davit-Spraul, Gonzales E, Baussan C, Jacquemin E. Progressive familial intrahepatic cholestasis. Orphanet J Rare Dis. 2009;4:1.
  4. Srivastava A. Progressive Familial Intrahepatic Cholestasis. J Clin Exp Hepatol 2014;4:25-36.
  5. van Wessel D. The Natural Course of BSEP deficiency: Results from the Global NAPPED Consortium. Presented at American Association for the Study of Liver Diseases, San Francisco, 2018.