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Factor V Leiden mutation in Sneddon syndrome

R Besnier1, C Francès, A Ankri

  • 1Service de Médecine Interne, Hôpital de la Pitié, Paris, France.

Lupus
|May 27, 2003
PubMed

Insights

Sneddon syndrome (SNS) patients with antiphospholipid antibodies (aPL) negative status show a higher prevalence of the factor V Leiden mutation. This suggests factor V Leiden mutation may contribute to aPL-negative SNS, highlighting the condition

Area of Science:

  • Vascular Neurology
  • Hematology
  • Genetics

Background:

  • Sneddon syndrome (SNS) is defined by ischemic cerebrovascular events and livedo racemosa.
  • The underlying pathophysiology of SNS remains incompletely understood.
  • Antiphospholipid antibodies (aPL) are implicated in some cases of SNS.

Purpose of the Study:

  • To investigate the prevalence of the factor V Leiden mutation in patients with Sneddon syndrome.
  • To assess the association between factor V Leiden mutation and antiphospholipid antibody (aPL) status in SNS patients.

Main Methods:

  • Fifty-three Caucasian patients diagnosed with SNS were analyzed.
  • Factor V Leiden mutation was detected using direct genomic analysis.
  • Antiphospholipid antibodies (aPL) were assessed through multiple determinations.

Main Results:

  • The factor V Leiden mutation was identified in 11.3% of all SNS patients, all heterozygous.
  • The mutation's frequency was significantly higher in aPL-negative SNS patients (19.3%) compared to aPL-positive patients (0%; P = 0.035).
  • No significant differences in clinical data or thrombosis history were observed between aPL-negative SNS patients with or without the factor V Leiden mutation.

Conclusions:

  • A notable prevalence of heterozygous factor V Leiden mutation was found in aPL-negative SNS patients.
  • This finding supports the concept of Sneddon syndrome being a heterogeneous condition.
  • Factor V Leiden mutation may play a role in the pathogenesis of aPL-negative Sneddon syndrome.

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