Progressive familial intrahepatic cholestasis:
Understanding and action start here.
PFIC is a rare but devastating liver disease. Hear about the true burden of PFIC from caregivers and healthcare providers.
Progressive familial intrahepatic cholestasis:
Understanding and action start here.
PFIC is a rare but devastating liver disease. Hear about the true burden of PFIC from caregivers and healthcare providers.
Progressive familial intrahepatic cholestasis (PFIC) is a spectrum of rare, inherited liver diseases that can lead to severe itching (pruritus), slowed growth, and liver failure.
The itching can be so severe that children and infants may scratch through their skin. Itching can also cause loss of sleep, poor attention, and lower school performance.1
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
Download the Spanish language version of the PFIC Guide to Talking with Your Doctor here.
Understanding PFIC
Normally, the body makes bile acids that help with digestion, including absorbing fats and some vitamins. In people with PFIC, the normal flow of bile acids is disrupted. Bile acids build up in the body, damaging the liver.2,3
PFIC affects 1 in 50,000 to 100,000 births.4 It is caused by mutations on different genes, including ATP8B1 (PFIC1), ABCB11 (PFIC2), ABCB4 (PFIC3), and others.5 PFIC1, PFIC2, and PFIC3 are the most common types.4 In addition, other rare forms of PFIC exist. They have some differences, but all cause problems with bile flow.5
Download the PFIC Fact Sheet to learn more. Or share the PFIC Fact Sheet with others who need to know about PFIC.
Why urgency matters
Why urgency matters
PFIC usually presents in infancy in PFIC1, PFIC2 and PFIC5. It can present later in infancy to young adulthood in PFIC3, and in early childhood in PFIC4 and PFIC6.1,6,7
Signs and symptoms may include:
- Severe itching
- Jaundice (yellowing of the skin and whites of the eyes)
- Enlarged liver
- Diarrhea
- Pale/discolored stools
- Fat-soluble vitamin (A, D, E and K) deficiency
- Slowed growth
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.
References
- Srivastava A. J Clin Exp Hepatol 2014;4:25-36.
- Kamath BM et al. Liver Int. 2020;40(8):1812-1822.
- Karpen SJ. Clin Liver Dis. 2020;15(3):115-119.
- Davit-Spraul A et al. Orphanet J Rare Dis. 2009;4:1.
- Amirneni S et al. World J Gastroenterol. 2020;26(47):7470-7484.
- Gunaydin M et al. Hepat Med. 2018;10:95-104.
- Bull LN et al. Clin Liver Dis. 2018;22:657-669.