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Autoimmune Diseases
Volume 2011, Article ID 189585, 11 pages
http://dx.doi.org/10.4061/2011/189585
Review Article

Primary Biliary Cirrhosis: Family Stories

1Institute of Liver Studies, King’s College London School of Medicine at King’s College Hospital, Denmark Hill Campus, London SE5 9RS, UK
24th Department of Internal Medicine, Medical School of Aristotle University, Hippocration General Hospital of Thessaloniki, 49 Konstantinopoleos Street, Thessaloniki 54642, Greece
3Department of Medicine and Research Laboratory of Internal Medicine, University of Thessaly Medical School, Thessaly, Mezourlo, Larissa 41222, Greece

Received 10 December 2010; Revised 9 February 2011; Accepted 7 March 2011

Academic Editor: I. R. Mackay

Copyright © 2011 Daniel Smyk et al. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Primary biliary cirrhosis (PBC) is a chronic immune-mediated cholestatic liver disease of unknown aetiology which affects mostly women in middle age. Familial PBC is when PBC affects more than one member of the same family, and data suggest that first-degree relatives of PBC patients have an increased risk of developing the disease. Most often, these familial clusters involve mother-daughter pairs, which is consistent with the female preponderance of the disease. These clusters provide evidence towards a genetic basis underlying PBC. However, clusters of nonrelated individuals have also been reported, giving strength to an environmental component. Twin studies have demonstrated a high concordance for PBC in monozygotic twins and a low concordance among dizygotic twins. In conclusion, studies of PBC in families clearly demonstrate that genetic, epigenetic, and environmental factors play a role in the development of the disease.