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DOI: 10.1055/s-0038-1653820
Arg506GIn Factor V Mutation (Factor V Leiden) in Patients with Ischaemic Cerebrovascular Disease and Survivors of Myocardial Infarction
Publication History
Received30 December 1994
Accepted after revision 02 February 1995
Publication Date:
09 July 2018 (online)
Summary
The point mutation Arg506->Gln of factor V was recently shown to be an important and relatively common genetic cause of venous thromboembolism. Using a DNA technique based on polymerase chain reaction, we surveyed the blood samples of 236 patients with ischaemic stroke or a transient ischaemic attack, 122 survivors of myocardial infarction and 137 control subjects for the presence of this mutation. Although the frequency of the factor V mutation in patients with arterial disease (4.5%) was not significantly different from that in healthy blood donors (2.9%), a carrier status for this mutant gene was associated with symptoms of migraine and relatively mild angiographic abnormalities among patients with cerebrovascular disease. A more extensive study addressing the occurrence and significance of the mutant factor V mutation in patients with vasospastic cerebrovascular diseases seems to be warranted.
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References
- 1 Dahlbäck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90: 1004-1008
- 2 Griffin JH, Evatt B, Wideman C, Fernandez JA. Anticoagulant protein C pathway defective in majority of thrombophilie patients. Blood 1993; 82: 1989-1993
- 3 Koster T, Rosendaal FR, de Ronde H, Briët E, Vandenbroucke JP, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet 1993; 342: 1503-1506
- 4 Svensson PJ, Dahlbäck B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994; 330: 517-522
- 5 Bertina RM, Koeleman BP C, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64-67
- 6 Palomäki H, Kaste M, Raininko R, Salonen O, Juvela S, Santa S. Risk factors for cervical atherosclerosis in patients with transient ischemic attack or minor ischemic stroke. Stroke 1993; 24: 970-975
- 7 Kauppinen-Mäkelin R, Järvinen P, Kontula K, Aalto-Setälä K, Ehnholm C, Tenkanen H, Taskinen M-R. Genetic polymorphism of apolipoprotein B, apolipoprotein E, and lipoprotein lipase, and serum lipoprotein levels in survivors of myocardial infarction. Nutr Metab Cardiovasc Dis 1993; 3: 118-127
- 8 Koivisto U-M, Hämäläinen L, Taskinen M-R, Kettunen K, Kontula K. Prevalence of familial hypercholesterolemia among young North Karelian patients with coronary heart disease: a study based on diagnosis by polymerase chain reaction. J Lipid Res 1993; 34: 269-277
- 9 Alberts MJ. Genetics of cerebrovascular disease. Stroke 1990; 21 suppl (Suppl. 03) III127-III130
- 10 Sing CF, Moll PP. Genetics of atherosclerosis. Annu Rev Genet 1990; 24: 171-187
- 11 Halbmayer W-M, Haushofer A, Schön R, Fischer M. The prevalence of poor anticoagulant response to activated protein C (APC resistance) among patients suffering from stroke or venous thrombosis and among healthy subjects. Blood Coagul Fibrinol 1994; 5: 51-57
- 12 Baraitser M. The genetics of neurological disorders. Oxford Monographs on Medical Genetics No 9. Oxford University Press; 1985. pp 90-93