Studies from the different ethnic regions of world have reported variable results on association of Apolioprotein E (APOE), Methylenetetrahydrofolate reductase (MTHFR), Endothelial Nitric Oxide Synthase (ENOS), Factor V Leiden (F5), Cytochrome P450 4F2 (CYP4F2), beta-fibrinogen and Phosphodiesterase 4D (PDE4D) gene in stroke.
He had stroke as part of a generalized bleeding-thromboembolic incident caused by combined heterozygote mutation of factor V(Leiden) and prothrombin G20210A, each of which was then found in a heterozygote form in each of the 2 parents.
Data of literature are not clear about what kind of genetic polymorphism is prominent in the genesis of cerebral stroke (factor V leiden, MTHFR, activated protein C resistance, factor II G20210A).
A 45-year-old man with heterozygous Factor V Leiden presented with his third cerebrovascular accident despite being on warfarin at a therapeutic international normalized ratio.
The magnitudes of stroke risk observed for factor V Leiden, ACE, MTHFR and prothrombin, but not PAI-1, polymorphisms, are consistent with risks associated with equivalent changes in activated protein C resistance, ACE activity, homocysteine, prothrombin, and PAI-1 levels, respectively.
Among the 9 "selected" ischemic stroke studies, factor V Leiden was more strongly associated with stroke (OR, 2.73; 95% CI, 1.98-3.75), whereas among the 8 "unselected" ischemic stroke studies, the association between factor V Leiden and stroke was substantially weaker (OR, 1.40; 95% CI, 0.998-1.95).
Activated protein C resistance has a stronger association with stroke than factor V Leiden and may be caused by other factors such as elevated factor VIII levels in the Asian Indian population apart from factor V Leiden itself.
Ninety-nine patients were tested for the presence of common polymorphisms related to thrombophilia (prothrombin and factor V Leiden) in order to assess genetic risk factors, and several parameters classically associated with vascular disorders (cardiovascular events, brain stroke and antiphospholipid syndrome) were evaluated.
Matched case-control study on factor V Leiden and the prothrombin G20210A mutation in patients with ischemic stroke/transient ischemic attack up to the age of 60 years.
The likely candidate genes associated with stroke are those that are associated with matrix deposition (stromelysin-1, MMP3), inflammation (IL-6), and lipid metabolism (hepatic lipase, APOE, PON1) and clotting (factor V Leiden, fibrinogen).
Odd ratio (OR) for cryptogenic stroke was 2.62 (95% CI, 0.49-13.95) for FVL and 3.75 (95% CI, 1.05-13.34) for PT 20210 and 3.28 (95% CI, 1,17-9.20) for some recognized genetic thrombophilic defect.
The association between factor V Leiden (FVL) and prothrombin G20210A (PT 20210) mutations and ischemic stroke remains controversial, particularly in young adults with cryptogenic stroke.
However, given the suggestive nature of our findings, further study in even larger numbers of patients is needed to clarify the impact of factor V Leiden on stroke risk in atrial fibrillation.