About PFIC | Progressive Familial
Intrahepatic Cholestasis

If someone you know or care about has PFIC, here is some information that may help you understand their condition.

• Progressive familial intrahepatic cholestasis (PFIC) is a spectrum^1-4 of autosomal recessive genetic disorders in which cholestasis leads to liver failure.⁵
• The estimated incidence of PFIC ranges from 1 in 50,000 to 100,000 births.⁵
• PFIC1, PFIC2, and PFIC3 are most common.⁵
• In addition, other rare forms of PFIC exist with varying phenotypes, but all present with cholestasis.⁶
• The most debilitating symptom of PFIC is pruritus (insatiable itching), which may be so severe that it leads to skin mutilation, loss of sleep, irritability, poor attention, and impaired school performance.⁷

If you have additional questions about PFIC, speak with a healthcare professional or contact an Albireo Assist Care Coordinator, who may be able to help.
Call 855-ALBIREO (855-252-4736) 8am-6pm ET.

References

1. Henkel S et al. World J Hepatol. 2019;11(5):450-463.
2. Schatz BA et al. Hepatol Commun. 2018;2(5):504-514.
3. Aldrian D et al. J Clin Med. 2021;10(3):481.
4. Folmer DE et al. Hepatology. 2009;50(5):1597-1605.
5. Davit-Spraul A et al. Orphanet J Rare Dis. 2009;4:1.
6. Amirneni S et al. World J Gastroenterol. 2020;26(47):7470-7484.
7. Srivastava A. J Clin Exp Hepatol 2014;4:25-36.