 |
 |
|
| ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
15 November 1997 | Volume 127 Issue 10 | Pages 895-903
Background: A single point mutation in the gene coding for coagulation factor V results in a form of factor Va that is resistant to degradation by activated protein C and leads to a relative hypercoagulable state. This mutation, factor V Leiden, is found in 4% to 6% of the U.S. population.
Purpose: To review clinical data on factor V Leiden mutation, with emphasis on prevalence of and risks for thromboembolism and implications for screening and management.
Data Sources: A MEDLINE search of the English-language literature published between 1993 and April 1997 and an extensive bibliography review.
Study Selection: Case-control and prospective cohort studies were reviewed if clinical features of thromboembolic disease associated with factor V Leiden mutation or resistance to activated protein C were presented. Original research articles were reviewed if they addressed the identification of the laboratory abnormality of activated protein C or factor V Leiden mutation. Case reports and case series were reviewed when no analytic data were available.
Data Extraction: Review of the identified articles.
Data Synthesis: Factor V Leiden mutation is associated with three- to sixfold increases in risks for primary and recurrent venous thromboembolism, especially in patients without transient risk factors, such as surgery or trauma. Risks for venous thromboembolism in genetically affected persons are substantially higher among patients with coexistent predispositions for thrombosis, such as advanced age, use of oral contraceptives, hyperhomocystinemia, and deficiencies of protein C and protein S. Factor V Leiden mutation does not seem to increase risks for arterial thrombosis. Whether patients with the mutation would benefit from more intense or prolonged anticoagulation is unknown.
Conclusions: The presence of factor V Leiden mutation predisposes patients to venous thromboembolism, but screening for this disorder is of uncertain utility. Decisions about whether to screen for the mutation will depend on the results of clinical trials designed to evaluate the benefit-to-risk ratio of long-term anticoagulation in the secondary prevention of venous thromboembolism in patients with resistance to activated protein C.
Author and Article Information
From Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.
REVIEW
Factor V Leiden Mutation and the Risks for Thromboembolic Disease: A Clinical Perspective
Requests for Reprints: Paul M. Ridker, MD, Division of Cardiovascular Diseases, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115.
Current Author Addresses: Dr. Price: Department of Medicine, Brigham and Women's Hospital, 75 Francis Street, Boston, MA 02115.
This article has been cited by other articles:
|
|
 |
|
  A. H. Kalajian, K. B. Turpen, K. O. Donovan, J. C. Malone, and J. P. Callen Phenylephrine-Induced Microvascular Occlusion Syndrome in a Patient With a Heterozygous Factor V Leiden Mutation Arch Dermatol, October 1, 2007; 143(10): 1314 - 1317. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. Sun The interaction between pathogens and the host coagulation system. Physiology, August 1, 2006; 21: 281 - 288. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 E. Nurk, G.S. Tell, H. Refsum, P.M. Ueland, and S.E. Vollset Factor V Leiden, pregnancy complications and adverse outcomes: the Hordaland Homocysteine Study QJM, May 1, 2006; 99(5): 289 - 298. [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]
|
|
|
|
 |
|
 V Bagaria, N Modi, A Panghate, and S Vaidya Incidence and risk factors for development of venous thromboembolism in Indian patients undergoing major orthopaedic surgery: results of a prospective study Postgrad. Med. J., February 1, 2006; 82(964): 136 - 139. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 M. J. Harnett, M. E. Walsh, T. F. McElrath, and L. C. Tsen The Use of Central Neuraxial Techniques in Parturients with Factor V Leiden Mutation Anesth. Analg., December 1, 2005; 101(6): 1821 - 1823. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. Feinbloom and K. A. Bauer Assessment of Hemostatic Risk Factors in Predicting Arterial Thrombotic Events Arterioscler. Thromb. Vasc. Biol., October 1, 2005; 25(10): 2043 - 2053. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 A. Girolami, L. Spiezia, B. Girolami, N. Zocca, and G. Luzzatto Effect of Age on Oral Contraceptive-Induced Venous Thrombosis Clinical and Applied Thrombosis/Hemostasis, July 1, 2004; 10(3): 259 - 263. [Abstract] [PDF]
|
|
|
|
|
|
K. K. Koh and I. Sakuma Should Progestins Be Blamed for the Failure of Hormone Replacement Therapy to Reduce Cardiovascular Events in Randomized Controlled Trials? Arterioscler. Thromb. Vasc. Biol., July 1, 2004; 24(7): 1171 - 1179. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. M. Simsic, W. E. Uber, J. Lazarchick, and S. M. Bradley Systemic-to-pulmonary artery shunt thrombosis in a neonate with factor V Leiden mutation Ann. Thorac. Surg., December 1, 2002; 74(6): 2179 - 2181. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J. E. Dalen Pulmonary Embolism: What Have We Learned Since Virchow?: Natural History, Pathophysiology, and Diagnosis Chest, October 1, 2002; 122(4): 1440 - 1456. [Full Text] [PDF]
|
|
|
|
 |
|
 N. Abramson and R. H. Aster Retrospective Assessment of Hypercoagulability in Breast Cancer Prevention Trial J. Clin. Oncol., October 1, 2002; 20(19): 4133 - 4134. [Full Text] [PDF]
|
|
|
|
|
|
D. M. Herrington, E. Vittinghoff, T. D. Howard, D. A. Major, J. Owen, D. M. Reboussin, D. Bowden, V. Bittner, J. A. Simon, D. Grady, et al. Factor V Leiden, Hormone Replacement Therapy, and Risk of Venous Thromboembolic Events in Women With Coronary Disease Arterioscler. Thromb. Vasc. Biol., June 1, 2002; 22(6): 1012 - 1017. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. Simioni, D. Tormene, P. Prandoni, P. Zerbinati, S. Gavasso, P. Cefalo, and A. Girolami Incidence of venous thromboembolism in asymptomatic family members who are carriers of factor V Leiden: a prospective cohort study Blood, March 15, 2002; 99(6): 1938 - 1942. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 D. Z. I. Cherney and J. S. Zaltzman Mycophenolate mofetil causing deep venous thrombosis in a renal transplant patient with factor V Leiden Nephrol. Dial. Transplant., August 1, 2001; 16(8): 1702 - 1704. [Full Text] [PDF]
|
|
|
|
 |
|
 J. M. Edelberg, P. D. Christie, and R. D. Rosenberg Regulation of Vascular Bed-Specific Prothrombotic Potential Circ. Res., July 20, 2001; 89(2): 117 - 124. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 H. Blaszyk and J. Bjornsson Factor V Leiden and Morbid Obesity in Fatal Postoperative Pulmonary Embolism Arch Surg, December 1, 2000; 135(12): 1410 - 1413. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 L. Mosca The Role of Hormone Replacement Therapy in the Prevention of Postmenopausal Heart Disease Arch Intern Med, August 14, 2000; 160(15): 2263 - 2272. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
P. E. Morange, M. Henry, D. Tregouet, B. Granel, M. F. Aillaud, M. C. Alessi, and I. Juhan-Vague The A -844G Polymorphism in the PAI-1 Gene Is Associated With a Higher Risk of Venous Thrombosis in Factor V Leiden Carriers Arterioscler. Thromb. Vasc. Biol., May 1, 2000; 20(5): 1387 - 1391. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Irish Renal allograft thrombosis: can thrombophilia explain the inexplicable? Nephrol. Dial. Transplant., October 1, 1999; 14(10): 2297 - 2303. [Full Text] [PDF]
|
|
|
|
 |
|
 R. D. Rosenberg and W. C. Aird Vascular-Bed-Specific Hemostasis and Hypercoagulable States N. Engl. J. Med., May 20, 1999; 340(20): 1555 - 1564. [Full Text] [PDF]
|
|
|
|
 |
|
 P. M. Ridker, C. H. Hennekens, and J. P. Miletich G20210A Mutation in Prothrombin Gene and Risk of Myocardial Infarction, Stroke, and Venous Thrombosis in a Large Cohort of US Men Circulation, March 2, 1999; 99(8): 999 - 1004. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 J HAAN, G G SCHOONMAN, G M TERWINDT, M D FERRARI, R M BERTINA, L J KAPPELLE, and J HAAN Prothrombotic mutations and ischaemic stroke at a young age in two sisters J. Neurol. Neurosurg. Psychiatry, December 1, 1998; 65(6): 958 - 959. [Full Text]
|
|
|
|
 |
|
 H. G. Welch and W. Burke Uncertainties in Genetic Testing for Chronic Disease JAMA, November 4, 1998; 280(17): 1525 - 1527. [Full Text] [PDF]
|
|
|
|
 |
|
 S. MURIN, G. P. MARELICH, A. C. ARROLIGA, and R. A. MATTHAY Hereditary Thrombophilia and Venous Thromboembolism Am. J. Respir. Crit. Care Med., November 1, 1998; 158(5): 1369 - 1373. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
S. Z. Goldhaber Pulmonary Embolism N. Engl. J. Med., July 9, 1998; 339(2): 93 - 104. [Full Text] [PDF]
|
|
Article
