Aim: To study factor V Leiden, prothrombin (G1691A), 5, 10-methylenetetrahydrofolate reductase (MTHFR, C677T) mutations in patients with primary antiphospholipid syndrome (PAPS) and cerebrovascular disease (CVD).
Material and methods: We studied 44 patients (38 female, 6 male, mean age 41.6 +/- 11.6 years) with PAPS and CVD. Detection of mutations was carried out using polymerase chain reaction.
Results: Heterozygous factor V Leiden mutation was found in 11% patients, heterozygous prothrombin mutation--in 9%, heterozygous and homozygous MTHFR mutation--in 50% and 9%, respectively. The severity of CVD, frequency of clinical manifestations related to non-cerebral arterial and venous thrombosis did not differ between the patients with and without mutations or there was a tendency to less frequent occurrence of these manifestations in patients with mutations. Patients with heterozygous factor V Leiden mutation, heterozygous prothrombin mutation or homozygous MTHFR mutation less frequently developed recurrent ischemic stroke than patients without these mutations (8% versus 44%, p < 0.02).
Conclusion: It is suggested that mutations studied do not play a significant role in development of cerebral and systemic thrombosis in patients with PAPS. The leading role belongs to antiphospholipid antibodies (aPL). Sometimes these mutations may protect from thrombogenic aPL action. This could underlie less frequent development of recurrent ischemic stroke in patients with mutation.