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Primary antiphospholipid syndrome in monozygotic twins

V Ravindran1, S Rajendran, G Elias

  • 1Department of Rheumatology, MES Medical College, Perinthalmanna, India. drvinod12@gmail.com

Lupus
|November 17, 2012
PubMed

Insights

This study describes monozygotic twins with primary anti-phospholipid syndrome (APS). Their differing clinical manifestations, including obstetric complications and venous thrombosis, suggest a genetic component in APS development.

Area of Science:

  • Immunology
  • Genetics
  • Obstetrics & Gynecology

Background:

  • Primary anti-phospholipid syndrome (APS) is an autoimmune disorder characterized by recurrent thrombosis and/or pregnancy morbidity.
  • The exact etiology of APS remains incompletely understood, with genetic and environmental factors proposed.
  • Monozygotic twins share identical genetic material, making them valuable for studying the genetic contribution to diseases.

Observation:

  • A case report of 27-year-old monozygotic twins presenting with primary APS.
  • Twin 1 experienced obstetric complications: miscarriage and premature birth of a growth-restricted fetus due to pre-eclampsia.
  • Twin 2 developed venous thrombosis.

Findings:

  • Both twins tested positive for lupus anticoagulant and high titers of anti-cardiolipin antibodies.
  • The concordant presence of APS in genetically identical twins, despite differing clinical phenotypes, was observed.
  • Clinical features of APS manifested in both twins, supporting a potential genetic predisposition.

Implications:

  • The development of clinical APS features in both monozygotic twins strongly suggests a significant underlying genetic basis in its pathogenesis.
  • This case highlights the role of genetic factors in the manifestation and potential variability of APS.
  • Further research into the genetic underpinnings of APS is warranted to understand disease development and inform personalized risk assessment.

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