Cerebrovascular Aneurysms May Be Associated with Thrombophilia-predisposing Mutations in Patients with Familial Risk

Abstract

Background: Pathogenesis of cerebral aneurysms implicates several risk factors. Three common thrombophilia-predisposing mutations were studied in patients with cerebrovascular aneurysms.

Patients and methods: A total of 186 Greeks (66 patients with intracranial aneurysm and 120 healthy controls) were studied. Fifteen patients had a family history of thrombophilia, while two of them had a first-degree relative with an aneurysm. Genetic analysis for thrombophilia-predisposing mutations factor V Leiden, factor II (prothrombin) G20210A and methylenetetrahydrofolate reductase C677T was performed in all subjects.

Results: Genotypic distributions and allelic frequencies were compatible with the Hardy-Weinberg equilibrium. There was no significant difference between healthy individuals and patients in mutant allelic frequencies of thrombophilia mutations. Nevertheless, the mutant allelic frequencies of factor V and II mutations were significantly increased in the sub-group of patients with a positive family history of thrombophilia compared to controls (p≤0.003).

Conclusion: Certain thrombophilia-related mutations may contribute to pathogenesis of intracranial aneurysms in a subset of the general population.

Keywords: Cerebrovascular aneurysms; family history; gene polymorphisms; genetic association; thrombophilia.