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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 Claire, whose daughter Eleanor 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 Claire, whose daughter Eleanor 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

The disease is estimated to impact one in every 50,000 to 100,000 children

Baby with PFIC using feeding tube

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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. 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 an educational brochure on PFIC

Children with PFIC and pruritus

PFIC Voices Matter

No one 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 Phase 3 clinical trial program to evaluate a potential treatment for this disease. To learn more about this study, please visit clinicaltrials.gov or contact Albireo Medical Information (857.378.2035 or medinfo@albireopharma.com).

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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.

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.
LiverFoundation.org

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

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

Children’s Liver Disease Foundation (CLDF) is a UK-based charity dedicated to pediatric liver diseases. Download the CLDF PFIC brochure here: https://www.childliverdisease.org/wp-content/uploads/2018/01/PFIC.pdf.
Childliverdisease.org

ClinicalTrials.gov provides the public with information on clinical studies on a wide range of diseases and conditions, including PFIC.
Clinicaltrials.gov

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

NORD is a patient advocacy organization dedicated to individuals with rare diseases and the organizations that serve them. It is committed to the identification, treatment, and cure of rare disorders through programs of education, advocacy, research, and patient services. www.rarediseases.org

PFIC Voices on Facebook offers #PFICvoices content, along with community and advocacy group news.
facebook.com/PFICVoices

PFIC Voices on YouTube contains videos featuring parents of children with PFIC and physicians with expertise on PFIC, as well as an archive of webinars on topics of interest to PFIC families.
youtube.com

Children with PFIC

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Stay Connected to PFIC Voices

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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.

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