Primary biliary cirrhosis: a multi-faced interactive disease involving genetics, environment and the immune response
Article first published online: 15 MAY 2012
© 2012 The Authors APMIS © 2012 APMIS
Volume 120, Issue 11, pages 857–871, November 2012
How to Cite
Uibo R, Kisand K, Yang C-Y, Gershwin ME. Primary biliary cirrhosis: a multi-faced interactive disease involving genetics, environment and the immune response. APMIS 2012.
- Issue published online: 26 SEP 2012
- Article first published online: 15 MAY 2012
- Manuscript Accepted: 10 APR 2012
- Manuscript Received: 9 MAR 2012
- Primary biliary cirrhosis;
- innate immunity;
Primary biliary cirrhosis (PBC) is considered a model autoimmune disease based on several features, including the presence of a highly directed and very specific immune response to mitochondrial autoantigens, a female predominance, a targeted destruction of the biliary epithelium, and homogeneity between patients. It is essentially a chronic progressive cholestatic liver disease characterized by immune-mediated destruction of small- and medium-sized intrahepatic bile ducts. There is considerable variation in the incidence and prevalence of the disease between regions of the world, although such differences likely reflect not only a true disparity in disease but also differences in awareness; for example, in the United States, PBC is often detected in an asymptomatic stage based on multi-phasic clinical testing. There has been considerable progress at defining the immune response in this disease, including quantitation of autoreactive T cells against PDC-E2, the major mitochondrial autoantigen. The overwhelming data suggests that patients develop PBC based on a genetic predisposition and loss of tolerance to one or more environmental agents. In this review, we will present an updated overview of PBC and place it in the context of autoimmunity.