A family study of anticardiolipin antibodies and associated clinical conditions

S N Goldberg1, A M Conti-Kelly, T P Greco

  • 1Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut, USA.

Insights

Anticardiolipin antibodies (aCL) and related autoimmune diseases like lupus are more common in relatives of patients with aCL. These findings suggest a familial link for antiphospholipid antibody-associated illnesses.

Area of Science:

  • Immunology
  • Genetics
  • Rheumatology

Background:

  • Anticardiolipin antibodies (aCL) are associated with autoimmune conditions.
  • Understanding the familial aggregation of aCL and related diseases is crucial for risk assessment.

Purpose of the Study:

  • To investigate the prevalence of aCL and antinuclear antibodies (ANA) in relatives of aCL-positive patients.
  • To identify clinical sequelae associated with aCL in family members.

Main Methods:

  • Prospective evaluation of 23 aCL-positive patients, 87 relatives, 18 spouses, and 37 controls.
  • Serologic testing for aCL (IgG and IgM) and ANA.
  • Clinical history assessment for autoimmune disease manifestations.

Main Results:

  • 57% of relatives showed autoantibody production (aCL and/or ANA), with 33% positive for aCL.
  • Relatives had significantly higher aCL-IgG and aCL-IgM titers compared to spouses and controls.
  • Clinical diagnoses in relatives included systemic lupus erythematosus (SLE), SLE-like diseases, strokes, recurrent fetal losses, thrombosis, and thrombocytopenia, all linked to aCL/ANA.

Conclusions:

  • ANA, aCL, and associated clinical events are more frequent in relatives of aCL-positive individuals.
  • The study suggests a potential familial predisposition to antiphospholipid antibody-related disorders.
Abstract

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