Progressive familial intrahepatic cholestasis type 2
Other Names for this Disease
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
jaundice, failure to thrive, portal hypertension (high blood pressure in the vein that provides blood to the liver) and hepatosplenomegaly (enlarged liver and spleen). PFIC2 generally progresses to liver failure in the first few years of life. Affected people also have an increased risk of developing hepatocellular carcinoma (a form of liver cancer). PFIC2 is caused by change (mutations) in the ABCB11 gene and is inherited in an autosomal recessive manner. Treatment may include ursodeoxycholic acid therapy to prevent liver damage, surgery and/or liver transplantation.Progressive familial intrahepatic cholestasis type 2 (PFIC2) is a rare condition that affects the liver. People with this condition generally develop signs and symptoms during infancy, which may include severe itching,
Last updated: 11/4/2015
- Progressive familial intrahepatic cholestasis type 2. Orphanet. May 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=79304.
- Melissa Kennedy, MD. Progressive Familial Intrahepatic Cholestasis. Medscape Reference. August 2013; http://emedicine.medscape.com/article/932794-overview.
- Progressive familial intrahepatic cholestasis. Genetics Home Reference. December 2009; http://ghr.nlm.nih.gov/condition/progressive-familial-intrahepatic-cholestasis.
- Genetics Home Reference (GHR) contains information on Progressive familial intrahepatic cholestasis type 2. This website is maintained by the National Library of Medicine.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Progressive familial intrahepatic cholestasis type 2. Click on the link to view a sample search on this topic.