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Familial risk estimation in systemic sclerosis.

H Englert1, J Small-McMahon, P Chambers

  • 1Department of Rheumatology, Royal North Shore Hospital, Sydney, NSW.

Australian and New Zealand Journal of Medicine
|April 14, 1999
PubMed
Summary
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Familial systemic sclerosis is more common than previously thought, with a 1% absolute risk for first-degree relatives. This study highlights family history as a key risk factor for systemic sclerosis.

Area of Science:

  • Epidemiology
  • Genetics
  • Rheumatology

Background:

  • Familial systemic sclerosis is rarely reported, leading to assumptions of no familial aggregation.
  • This study challenges these assumptions using a population-based epidemiological approach.

Purpose of the Study:

  • To quantify the prevalence and characteristics of familial systemic sclerosis.
  • To critically evaluate the role of family history in systemic sclerosis risk.

Main Methods:

  • Retrospective cohort study comparing first-degree family members of 715 systemic sclerosis patients to controls.
  • Data collected via telephone questionnaires and medical records review.
  • Prevalence expressed as relative risk, absolute risk, and population point prevalence.

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Main Results:

  • Familial systemic sclerosis validated in 10 of 710 families; distant relatives also affected.
  • Disease subtype concordance was 80%; female predominance similar to non-familial cases.
  • Absolute disease risk in first-degree relatives approximated 1%; population prevalence of familial systemic sclerosis ~1.4/million.

Conclusions:

  • This study significantly expands documented cases of familial systemic sclerosis.
  • Quantifies familial risk, identifying it as the most powerful determinant of systemic sclerosis to date.