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This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Rosendaal, F. Articles by Reitsma, P. Search for Related Content PubMed PubMed Citation Articles by Rosendaal, F. Articles by Reitsma, P. Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance) [see comments] FR Rosendaal, T Koster, JP Vandenbroucke and PH Reitsma Hemostasis and Thrombosis Research Center, Leiden, The Netherlands. Resistance to activated protein C (APC) is a common inherited risk factor for venous thrombosis, which is associated with a mutation in coagulation factor V (factor V Leiden). We investigated the risk of venous thrombosis in individuals homozygous for this abnormality. We determined the factor V Leiden genotype in 471 consecutive patients aged less than 70 years with a first objectively confirmed deep-vein thrombosis and in 474 healthy controls. We found 85 heterozygous and seven homozygous individuals among the cases with thrombosis and 14 heterozygous individuals among the control subjects. The expected number of homozygous individuals among the controls was calculated from Hardy-Weinberg equilibrium and estimated at 0.107 (allele frequency, 1.5%). Whereas the relative risk was increased sevenfold for heterozygous individuals, it was increased 80-fold for homozygous individuals. These patients experienced their thrombosis at a much younger age (31 v 44 years). The homozygous individuals were predominantly women, most likely due to the effect of oral contraceptives. Because of the increased risk of thrombosis with age, the absolute risk becomes most pronounced in older patients, both for heterozygous and homozygous individuals. For the homozygous individuals, the absolute risk may become several percentage points per year. This implies that most individuals homozygous for factor V Leiden will experience at least one thrombotic event in their lifetime. Volume 85, Issue 6, pp. 1504-1508, 03/15/1995 Copyright © 1995 by The American Society of Hematology CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: G. Celiker, U. Can, H. Verdi, A. C. Yazici, N. Ozbek, and F. B. Atac Prevalence of Thrombophilic Mutations and ACE I/D Polymorphism in Turkish Ischemic Stroke Patients Clinical and Applied Thrombosis/Hemostasis, August 1, 2009; 15(4): 415 - 420. [Abstract] [PDF] S. 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Gurgey Paget-Schroetter Syndrome Associated with FV:Q506 and Prothrombin 20210A: A Case Report Angiology, August 1, 1999; 50(8): 689 - 692. [Abstract] [PDF] A. Zivelin, S. Gitel, J. H. Griffin, X. Xu, J. A. Fernandez, U. Martinowitz, Y. Cohen, H. Halkin, U. Seligsohn, and A. Inbal Extensive Venous and Arterial Thrombosis Associated With an Inhibitor to Activated Protein C Blood, August 1, 1999; 94(3): 895 - 901. [Abstract] [Full Text] [PDF] J. R. Meinardi, S. Middeldorp, P. J. de Kam, M. M.W. Koopman, E. C.M. van Pampus, K. Hamulyak, M. H. Prins, H. R. Buller, and J. van der Meer Increased Risk for Fetal Loss in Carriers of the Factor V Leiden Mutation Ann Intern Med, May 4, 1999; 130(9): 736 - 739. [Abstract] [Full Text] [PDF] D. Provan and D. F O'Shaughnessy Recent advances in haematology BMJ, April 10, 1999; 318(7189): 991 - 994. [Full Text] P. Bucciarelli, F. R. Rosendaal, A. Tripodi, P. M. Mannucci, V. De Stefano, G. Palareti, G. Finazzi, F. Baudo, and R. Quintavalla Risk of Venous Thromboembolism and Clinical Manifestations in Carriers of Antithrombin, Protein C, Protein S Deficiency, or Activated Protein C Resistance : A Multicenter Collaborative Family Study Arterioscler Thromb Vasc Biol, April 1, 1999; 19(4): 1026 - 1033. [Abstract] [Full Text] [PDF] O. Salomon, D. M. Steinberg, A. Zivelin, S. Gitel, R. Dardik, N. Rosenberg, S. Berliner, A. Inbal, A. Many, A. Lubetsky, et al. Single and Combined Prothrombotic Factors in Patients With Idiopathic Venous Thromboembolism : Prevalence and Risk Assessment Arterioscler Thromb Vasc Biol, March 1, 1999; 19(3): 511 - 518. [Abstract] [Full Text] [PDF] M. C.H. de Visser, F. R. Rosendaal, and R. M. Bertina A Reduced Sensitivity for Activated Protein C in the Absence of Factor V Leiden Increases the Risk of Venous Thrombosis Blood, February 15, 1999; 93(4): 1271 - 1276. [Abstract] [Full Text] [PDF] S. Ehrenforth, M. v. D. Prondsinski, E. Aygoren-Pursun, U. Nowak-Gottl, I. Scharrer, and A. Ganser Study of the Prothrombin Gene 20201 GA Variant in FV:Q506 Carriers in Relationship to the Presence or Absence of Juvenile Venous Thromboembolism Arterioscler Thromb Vasc Biol, February 1, 1999; 19(2): 276 - 280. [Abstract] [Full Text] [PDF] M. Kalafatis, F. Bernardi, P. Simioni, B. Lunghi, A. Girolami, and K. G. Mann Phenotype and Genotype Expression in Pseudohomozygous Factor VLEIDEN : The Need for Phenotype Analysis Arterioscler Thromb Vasc Biol, February 1, 1999; 19(2): 336 - 342. [Abstract] [Full Text] [PDF] M. Hunault, C. Marsh-Scott, C. Jou, R. Marshall, C. Scheffel, L. D. Fiore, K. A. Bauer, and M. J. Mitchell Automated Detection of the Factor V Leiden Mutation Using the LCx Microparticle Enzyme Immunoassay Clin. Chem., January 1, 1999; 45(1): 41 - 46. [Abstract] [Full Text] [PDF] G. Muriel, B. Christine, J. Philippe, M. Christophe, S. J. Francois, and A. M. Patricia An Even Easier Method for One-Step Detection of Both FV Leiden and FII G20210A Transition Blood, November 1, 1998; 92(9): 3478 - 3479. [Full Text] [PDF] M A LAFFAN Activated protein C resistance and myocardial infarction Heart, October 1, 1998; 80(4): 319 - 321. [Full Text] I. Martinelli, P. M. Mannucci, V. De Stefano, E. Taioli, V. Rossi, F. Crosti, K. Paciaroni, G. Leone, and E. M. Faioni Different Risks of Thrombosis in Four Coagulation Defects Associated With Inherited Thrombophilia: A Study of 150 Families Blood, October 1, 1998; 92(7): 2353 - 2358. [Abstract] [Full Text] [PDF] E. Rechavia and M. Wurzel Platelet Glycoprotein IIb/IIIa Receptor Blockade in Acute Myocardial Infarction Associated With Thrombotic Occlusion of the Left Main Coronary Artery Circulation, September 22, 1998; 98(12): 1249 - 1250. [Full Text] [PDF]

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