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Primary biliary cirrhosis: family stories
Daniel Smyk1, Evangelos Cholongitas, Stephen Kriese
1Institute of Liver Studies, King's College London School of Medicine at King's College Hospital, Denmark Hill Campus, London SE5 9RS, UK.
Autoimmune Diseases
|June 21, 2011
Summary
Primary biliary cirrhosis (PBC) is a chronic liver disease. Familial studies indicate that genetic, epigenetic, and environmental factors contribute to its development.
Area of Science:
- Hepatology
- Immunology
- Genetics
Background:
- Primary biliary cirrhosis (PBC) is a chronic, immune-mediated cholestatic liver disease with an unknown cause.
- PBC predominantly affects middle-aged women, with familial cases suggesting a genetic predisposition.
- Increased risk in first-degree relatives and mother-daughter pairs highlight potential hereditary components.
Purpose of the Study:
- To investigate the etiological factors contributing to Primary Biliary Cirrhosis (PBC).
- To explore the roles of genetic, epigenetic, and environmental influences in PBC development.
Main Methods:
- Analysis of familial clusters of Primary Biliary Cirrhosis (PBC).
- Review of twin studies examining concordance rates in monozygotic and dizygotic twins.
- Examination of disease patterns in related and non-related individuals.
Main Results:
- Familial PBC clusters, particularly mother-daughter pairs, suggest a genetic basis.
- Reported clusters in non-related individuals indicate an environmental component.
- High concordance in monozygotic twins versus low concordance in dizygotic twins supports genetic influence.
Conclusions:
- Studies of PBC in families provide clear evidence for the involvement of multiple factors.
- Genetic, epigenetic, and environmental factors collectively play a significant role in the pathogenesis of PBC.
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