Factor V Leiden, prothrombin G20210A, and MTHFR C677T gene mutations in patients with primary anti-phospholipid syndrome and cerebrovascular disorder

Abstract number: P0994

Kalashnikova^* L., Patrusheva† N., Patrushev† L., Kovalenko† T., Dobrynina† L., Alexandrova† E., Nassonov† E.

^*Institute of Neurology, Russia; †Institute of Rheumatology, Russia †Shemyakin-Ovchinnikov Institute of Bioorganic Chem, Russia;

Genetic factors predisposing to thrombophilia may increase the risk for ischemic stroke and peripheral thrombosis. The aim of present work was to study the prevalence and significance of factor V (FV) Leiden, prothrombin G20210A, and 5,10-methylenetetrahydrofolate reductase (MTHFR) C677T gene mutations in patients (pts) with primary anti-phospholipid syndrome (PAPS) who survived ischemic cerebrovascular events. We studied 23 pts (18 female, 5 male, mean age – 38.4 ± 9.0) with PAPS and cerebrovascular disease (CVD). Control group included 30 healthy donors. PCR and restriction endonucleases were used to detect mutations in pts DNA. MTHFR gene polymorphism was found in 16 patients (70%): 677CT in 14 pts (61%), 677TT in 2 pts (9%); heterozygous FV Leiden was revealed in 4 pts (17%), homozygous – in none, heterozygous prothrombin G20210A mutation was found in 2 pts (9%), homozygous – in none. 17 patients (74%) had at least one of studied mutation. In control group only MTHFR gene mutation (heterozygous – 36%, homozygous – 7%) was found. The comparison of pts with and without mutations showed that in pts with mutations CVD started at earlier age, then in pts without mutations (29.6 ± 9.9 years vs. 33.7 ± 7.5 years), pts with mutations also had the tendency to more often development of peripheral venous thrombosis and ischemic heart disease. It is suggested that genetic factors predisposing to thrombophilia may increase procoagulant tendency in pts with PAPS.