Background and purpose: The factor V Leiden mutation is associated with ischemic stroke in children but not in adults. Whether it is associated with ischemic stroke in young adults, however, is uncertain.
Methods: To address this issue, we performed a meta-analysis of 18 case-control studies of ischemic stroke in adults 50 years of age and younger published before June 2009.
Results: Across all studies, factor V Leiden was detected in 154 of 2045 cases (7.5%) and 217 of 5307 controls (4.1%), yielding a fixed-effect odds ratio of 2.00 (95% CI, 1.59-2.51). However, further analyses revealed substantial heterogeneity among these studies (P=0.005 for Q-test of heterogeneity). Hypothesizing that this heterogeneity could be related to differences among studies in case selection criteria, we stratified the meta-analysis into studies for which case samples were enriched or not enriched to include cases having an increased likelihood of prothrombotic genetic involvement ("selected" ischemic stroke studies, n=9) and those that recruited cases from consecutive neurology referrals or hospitalizations ("unselected" ischemic stroke studies, n=8). 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). This difference was found to be statistically significant (P=0.003 for Woolf test for heterogeneity).
Conclusions: We conclude that factor V Leiden is associated with ischemic stroke in young adults, particularly in patient populations in which there is an increased clinical suspicion of prothrombotic state.