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Progressive familial intrahepatic cholestasis:
Understanding and action start here.

PFIC is a rare but devastating liver disease. Families affected by it are desperate for relief. Hear about the true burden of PFIC that drives the immediate need for action.

Progressive familial intrahepatic cholestasis:
Understanding and action start here.

PFIC is a rare but devastating liver disease. Families affected by it are desperate for relief. Hear about the true burden of PFIC that drives the immediate need for action.

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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.

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Get the PFIC Guide to Talking With Your Doctor

Developed in partnership with the PFIC Network and other people living with PFIC. Download the FREE PFIC Guide to Talking with Your Doctor and learn:

  • Why it’s important to prepare for medical appointments
  • The value of advocating for yourself and others
  • Questions other families living with PFIC ask their doctors

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. PFIC is a spectrum of disorders caused by mutations on different genes (ATP8B1, ABCB11 and ABCB4) that affect bile acid metabolism. When the function of these genes are impaired, bile acids can accumulate in the liver and bloodstream, causing progressive symptoms within and, sometimes, outside the liver.

Many patients living with PFIC experience debilitating symptoms, like jaundice (yellowing) and pruritus (severe itching), as well as 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

PFIC is an ultra-rare progressive liver disease that impacts children globally.3

Download the PFIC Fact Sheet to learn more. Or share the PFIC Fact Sheet with others who need to know about PFIC.

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PFIC Liver Disease

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Why urgency matters

Why urgency matters

Even the same type of PFIC, or genetic mutation, can affect different people in different and significant ways. 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. Patients and caregivers have reported that 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. Patients living with PFIC may also experience bone loss, eye symptoms, muscle/neurological problems, or difficulty clotting blood.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 PFIC: A Guide for Patients and Families

Learn more about this life-threatening pediatric liver disease with this educational brochure. Advocate for impacted families.

These are the voices of PFIC

Nobody can more effectively convey the impact of PFIC than the families living with the condition and their healthcare providers who strive to make a difference. Click the videos below to learn more.

PFIC clinical trials | committed to making a difference

The PEDFIC Program
The PEDFIC Program

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 clinical trial program to evaluate a potential treatment for this disease.

Learn more

References

  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.