Common Prothrombotic Gene Mutations in Cerebral Venous Sinus Thrombosis in North-West of Iran

Objective: Cerebral venous sinus thrombosis (CVST) is a life-threatening cerebrovascular disease which has high prevalence and mortality rate in Iran. Thrombophilia caused by gene mutation is a common cause of CVST. The present study aimed at assessing the prevalence of thrombophilic gene mutations in Iranian CVST patients and then comparing it with normal population. Materials and methods: In a case-control study, polymerase chain reaction-restriction fragment length polymorphism (PCR_RFLP) and amplification-refractory mutation system (ARMS-PCR) were carried out to detect common thrombophilic mutations in 70 CVST patients. Next, it was compared with 82 sex- and age-matched healthy controls. Results: Factor-V-Leiden, Factor-V-Leiden HR2, Factor prothrombin II, MTHFR (667C/T) and MTHFR (1298A/C) prevalence were significantly high in cases of CVST as compared to the controls (P values: 0.012, 0.019, 0.007 and 0.036, respectively). However, there was no significant difference between the two groups in plasminogen activator inhibitor (PAI), angiotensin-converting enzyme (ACE), beta-fibrinogen (FGB), Factor VIII, Factor XIII, and tissue plasminogen activator (tPA) mutations. Conclusion: The findings of the present study suggest that Factor V-Leiden, Factor-V-Leiden HR2, prothrombin II (G20210A), and MTHFR (667C/T & 1298A/C) mutations are more frequent in CVST. Detection of these mutations may help clinicians to decide on the duration of treatment and referral to genetic counseling for valuable prevention.