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.
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).
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.
In particular factor V Leiden or prothrombin G20210A associated with cryptogenic stroke (P = 0.022) whereas other coagulation abnormalities did not (P = 0.140).
Of the inherited thrombophilias, factor V Leiden and the prothrombin 20210 mutation have been associated with stroke, but this association is statistically significant only in children and adults under age 40.
Single nucleotide polymorphisms of protein C, factor V (e.g., factor V Leiden), and plasminogen activator inhibitor-1 are associated with an increased risk of deep venous thrombosis, pulmonary emboli, acute myocardial infarction, and stroke.
Recently, the high prevalence of factor V Leiden in patients with stroke and a history of migraine has suggested an association between migraine and prothrombotic genetic risk factors.
It has been proposed that activated protein C resistance (APCR) due to the factor V Leiden (FVL) mutation may be a risk factor for stroke in young adults.
The odds ratios for each event with heterozygous factor V Leiden were: MI, 0.46 (95% CI 0.17 to 1.25); angina, 1.0 (95% CI 0.45 to 2.23); stroke, 0.77 (95% CI 0.35 to 1.70): TIA, 1.33 (95% CI 0.5 to 3.55); any outcome, 0.83 (95% CI 0.48 to 1.44).