Factor V Leiden mutation in Sneddon syndrome.

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.