Factor V Leiden Mutation and Increased Stroke Risk
Factor V Leiden Mutation and Increased Stroke Risk
Editor’s NoteThe following abstract represents a paper published in 1996 but in a journal that neurologists seldom encounter. Neurology Alert features it here because it is so relevant to the previous report on anticardiolipin antibodies. fp
Circulating antiphospholipid antibodies (aPL) produce a hypercoagulable state that is associated with arterial and venous thromboembolic events and recurrent fetal miscarriages. Not all patients with aPL develop thrombotic complications. In a study appearing in the no-often-seen Thrombosis Research, Simantov and colleagues found that the presence of the factor V Leiden mutation increased the risk of thrombosis with aPL.1
They studied 106 patients over the age of 18 years with positive aPL: 103 had positive anticardiolipin antibodies (aCL) and three had the lupus anticoagulant. Of this group, 56 had thrombotic disease and 50 did not. (See Table.) Mean age was not different between the groups, but the thrombotic group had a higher mean aCL titer. All five patients who were heterogenous for the factor V Leiden mutation were in the thrombotic disease group. One of these five also had SLE. The mean aCL titer of the five aPL patients who had the factor V Leiden mutation was 74 ± 8 GPL, and their mean age (43 ± 4 years) did not differ significantly from that of the study population. All five were white.
Table
Characteristics of 106 patients with positive aPL
No Thrombotic Disease Thrombotic Disease
(n = 50) (n = 56)
SLE (n) 26 27 (NS)
Age (± SEM) 39 ± 2 41 ± 2 (NS)
ACL Titer (GPL ± SEM) 55 ± 6 75 ± 5; P = 0.005
Factor V Leiden Positive 0 5; P = 0.05
COMMENTARY
This study confirms previous reports that in patients with SLE, the risk of thrombotic complications correlates with the presence of aCL. It also indicates that patients with the factor V Leiden mutation who have aPL are at an increased risk for thrombotic disease and that the risk is most significant in patients with aPL who do not have SLE.
The factor V Leiden mutation has been identified as the most common genetic defect leading to thrombotic disease and has been found in approximately one-third of patients with unexplained thrombotic events (Greengard JS, et al. Lancet 1994;343:1362-1363; Svensson PJ, et al. N Engl J Med 1994;330:517-522).
Factor V polymorphism is found in approximately 5% of the general population but is more common in whites.
This study suggests that patients with aCL should be screened for the presence of the factor V Leiden mutation in order to identify patients who are at greater risk for thromboembolic complications and who therefore might benefit from more aggressive therapeutic interventions. jjc
Reference
1. Simantov R, et al. Factor V Leiden increases the risk of thrombosis in patients with antiphospholipid antibodies. Thrombosis Research 1996;84:361-365.
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