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Familial primary biliary cirrhosis

N Bach1, F Schaffner

  • 1Samuel Bronfman Department of Medicine, Mount Sinai School of Medicine, City University of New York, New York.

Journal of Hepatology
|June 1, 1994
PubMed
Summary

A family history of primary biliary cirrhosis (PBC) significantly increases disease risk. This study found PBC prevalence in relatives of PBC patients is markedly higher than in the general population, indicating a strong genetic predisposition.

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Area of Science:

  • Hepatology
  • Gastroenterology
  • Medical Genetics

Background:

  • Primary biliary cirrhosis (PBC) is a chronic liver disease with an unknown etiology.
  • Familial clustering of PBC suggests a potential genetic component.

Purpose of the Study:

  • To estimate the prevalence of primary biliary cirrhosis (PBC) among family members of diagnosed patients.
  • To determine if a family history of PBC is a predisposing factor for developing the disease.

Main Methods:

  • Retrospective chart review and prospective mail survey of 405 PBC patients.
  • Comparison of PBC prevalence in affected family members to general population estimates.

Main Results:

  • Twenty-six (6.4%) of 405 PBC patients had at least one affected family member.
  • Excluding patients within the practice, PBC prevalence in family members was 4.3% (4282 per 100,000).
  • Affected relatives included mothers, daughters, sisters, brothers, aunts, and cousins.

Conclusions:

  • The prevalence of PBC in family members of PBC patients is significantly higher than in the general population.
  • A positive family history of primary biliary cirrhosis is a predisposing factor for disease development.

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