Objective: To assess, for the first time, the role of Factor V Leiden (FVL) and prothrombin gene/G20210A mutations as risk factors for cerebral venous thrombosis (CVT) in Egypt. Secondarily to study the effect of simultaneous presence of acquired risk factors for thrombosis together with these mutations on the risk of developing CVT.
Background: Inherited thrombophilias are responsible for 22.4% of CVT cases. Data from Arab countries are developing.
Methods: A case-control study (50 patients with CVT and 150 controls) was performed in our university hospital. Genetic screening included single nucleotide polymorphisms (SNPs) detection for FVL/G1691A mutation & prothrombin gene/G20210A mutation. Acquired risk factors for thrombosis were also investigated.
Results: Prothrombin gene mutation was found to be more prevalent and had more risk for CVT occurrence (20%, P-value= 0.00019505, OR: 9.125, CI: 2.718-30.635) more than FVL mutation (12%, P-value= 0.0489, OR: 3.273, CI: 1.005-10.660). This risk was increased if either mutation was simultaneously associated with acquired risk factors for thrombosis (OR= 28.778, CI: 6.258-132.332).
Conclusions:Prothrombin gene mutation followed by FVL mutation are important risk factors for CVT in Egypt.This risk is increased up to 4 folds if either mutation was simultaneously associated with acquired risk factors for thrombosis.
Elkapany, Rasha A.; Melake, Mostafa S.; Elsayed, Fatma A. A.; and Arafat, Eman S.
"Factor V Leiden Mutation And Prothrombin G20210A Mutation As Genetic Risk Factors For Cerebral Venous Thrombosis In An Egyptian Sample: Consecutive Controlled Case Series,"
Menoufia Medical Journal: Vol. 36:
1, Article 9.