(Stroke. 1998;29:2507-2510.)
© 1998 American Heart Association, Inc.
Original Contributions |
Factor V Leiden Mutation Is a Risk Factor for Cerebral Venous Thrombosis
A Case-Control Study of 55 Patients
From the Department of Neurology (P.L., D.G.N., E.W., K.P., E.B.R.), Institute of Clinical Chemistry and Laboratory Medicine (R.J., G.A.), and Institute of Radiology (K.P.), University of Münster; Germany; Department of Neurology, University of Aachen, Aachen, Germany (H.B.); and Institute of Atherosclerosis Research (G.A.), Münster, Germany.
Correspondence to Peter Lüdemann, MD, Klinik und Poliklinik für Neurologie, Westfälische Wilhelms- Universität Münster, Albert-Schweitzer-Str 33, 48129 Münster, Germany. E-mail Ludemap{at}uni-muenster.de
Background and Purpose—Different coagulation disorders have been associated with cerebral venous thrombosis (CVT). Until now, fewer than 50 patients have been reported with CVT and the factor V Leiden (FVL) mutation. Although the prevalence of FVL-positive patients with CVT ranged from 10% to 25%, it was as low as 0.5% to 3% in the control groups. Most other studies had not systematically searched for concomitant risk factors or previous thromboembolic events. To better define the relevance of the FVL mutation in conjunction with additional risk factors in CVT, we conducted the present case-control study.
Methods—Fifty-five patients with CVT were compared with 272 healthy controls. A standardized interview regarding established risk factors for venous thrombosis and the patients' and their families' histories for thromboembolic events was performed. The presence of the FVL mutation was determined by polymerase chain reaction on DNA obtained from peripheral blood leukocytes.
Results—Of 55 patients, 8 (14.5%) were heterozygous for the FVL mutation compared with 17 of 272 controls (6.25%). The relative risk for the presence of FVL was 2.55 (95% confidence interval, 1.04 to 6.26; P=0.04). Additional risk factors for CVT were frequently found in both the presence and absence of FVL. Recurrence of venous thromboembolic events was more frequent in patients with the FVL mutation (5 of 8 patients, 62.5%) than in those without this anomaly (8 of 47 patients, 17%; P<0.005).
Conclusions—Our study confirms the FVL mutation as the most relevant hereditary risk factor for CVT. Coexisting risk factors are usually involved in the initiation of CVT. Patients with the FVL mutation are at an increased risk for recurrent venous thrombosis.
Key Words: factor V • protein C • sinus thrombosis
This article has been cited by other articles:
 |
|
 |
|
  E. S. Roach, M. R. Golomb, R. Adams, J. Biller, S. Daniels, G. deVeber, D. Ferriero, B. V. Jones, F. J. Kirkham, R. M. Scott, et al. Management of Stroke in Infants and Children: A Scientific Statement From a Special Writing Group of the American Heart Association Stroke Council and the Council on Cardiovascular Disease in the Young Stroke, September 1, 2008; 39(9): 2644 - 2691. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. Voetsch, R. C. Jin, C. Bierl, L. Deus-Silva, E. C.S. Camargo, J. M. Annichino-Bizacchi, D. E. Handy, and J. Loscalzo Role of Promoter Polymorphisms in the Plasma Glutathione Peroxidase (GPx-3) Gene as a Risk Factor for Cerebral Venous Thrombosis Stroke, February 1, 2008; 39(2): 303 - 307. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. H. Reuner, E. Jenetzky, A. Aleu, F. Litfin, P. Mellado, M. Kloss, E. Juttler, A. J. Grau, H. Rickmann, H. Patscheke, et al. Factor XII C46T gene polymorphism and the risk of cerebral venous thrombosis Neurology, January 8, 2008; 70(2): 129 - 132. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 F. Dentali, M. Crowther, and W. Ageno Thrombophilic abnormalities, oral contraceptives, and risk of cerebral vein thrombosis: a meta-analysis Blood, April 1, 2006; 107(7): 2766 - 2773. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. Stam Thrombosis of the Cerebral Veins and Sinuses N. Engl. J. Med., April 28, 2005; 352(17): 1791 - 1798. [Full Text] [PDF]
|
|
|
|
 |
|
 G. Sebire, B. Tabarki, D. E. Saunders, I. Leroy, R. Liesner, C. Saint-Martin, B. Husson, A. N. Williams, A. Wade, and F. J. Kirkham Cerebral venous sinus thrombosis in children: risk factors, presentation, diagnosis and outcome Brain, March 1, 2005; 128(3): 477 - 489. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Dunkley and I. Johnston Thrombophilia as a common predisposing factor in pseudotumor cerebri Blood, March 1, 2004; 103(5): 1972 - 1973. [Full Text] [PDF]
|
|
|
|
 |
|
 Z Szolnoki, F Somogyvari, A Kondacs, M Szabo, L Fodor, J Bene, and B Melegh Evaluation of the modifying effects of unfavourable genotypes on classical clinical risk factors for ischaemic stroke J. Neurol. Neurosurg. Psychiatry, December 1, 2003; 74(12): 1615 - 1620. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
B. Rizzato, F. Ferrante, A. Pisani, M. Diomedi, J. N. Fink, and D. L. McAuley Recurrent Cerebral Venous Thrombosis in a 24-Year-Old Puerperal Woman * Response Stroke, September 1, 2002; 33(9): 2148 - 2149. [Full Text] [PDF]
|
|
|
|
|
|
D. E. Thaler and M. P. Frosch Case 16-2002 - A 41-Year-Old Woman with Global Headache and an Intracranial Mass N. Engl. J. Med., May 23, 2002; 346(21): 1651 - 1658. [Full Text] [PDF]
|
|
|
|
 |
|
 H. V Joffe and S. Z Goldhaber Laboratory thrombophilias and venous thromboembolism Vascular Medicine, May 1, 2002; 7(2): 93 - 102. [Abstract] [PDF]
|
|
|
|
|
|
P. Madonna, V. de Stefano, A. Coppola, F. Cirillo, A. M. Cerbone, G. Orefice, and G. Di Minno Hyperhomocysteinemia and Other Inherited Prothrombotic Conditions in Young Adults With a History of Ischemic Stroke Stroke, January 1, 2002; 33(1): 51 - 56. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. K. Lynch, K. B. Nelson, C. J. Curry, and J. K. Grether Cerebrovascular Disorders in Children With the Factor V Leiden Mutation J Child Neurol, October 1, 2001; 16(10): 735 - 744. [Abstract] [PDF]
|
|
|
|
|
|
N. Caplin, L. Edelman, F. J. Casals Sole, B. Potzsch, K. Madlener, B. Goichot, E. Andres, U. Seligsohn, and A. Lubetsky Thrombophilia N. Engl. J. Med., August 30, 2001; 345(9): 697 - 699. [Full Text] [PDF]
|
|
|
|
|
|
P. Madonna, V. De Stefano, A. Coppola, R. Albisinni, and A. M. Cerbone G20210A PRTH Gene Mutation and Other Trombophilic Polymorphisms in Patients With Cerebral Vein Thrombosis Stroke, July 1, 2000; 31 (7): 1785 - 1790. [Full Text] [PDF]
|
|