Usefulness of factor v Leiden mutation testing in clinical practice

European Journal of Human Genetics

Volumn 18, Issue 8, 2010, Pages 862-866

  Blinkenberg, Ellen Ø ^a   Kristoffersen, Ann Helen ^a   Sandberg, Sverre ^a   Steen, Vidar M ^a,b   Houge, Gunnar ^a,b  

^a HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^b UNIVERSITY OF BERGEN   (Norway)

Author keywords

clinical usefulness; factor V Leiden; thrombophilia

Indexed keywords

ANTICOAGULANT AGENT; BLOOD CLOTTING FACTOR 5 LEIDEN; ORAL CONTRACEPTIVE AGENT; BLOOD CLOTTING FACTOR 5;

ACTIVATED PROTEIN C RESISTANCE; ADULT; ARTICLE; CLINICAL PRACTICE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST; FEMALE; FOLLOW UP; GENERAL PRACTICE; HEART INFARCTION; HETEROZYGOSITY; HETEROZYGOTE; HUMAN; LABORATORY TEST; MAJOR CLINICAL STUDY; MALE; MUTATION; PRESCRIPTION; PREVALENCE; PRIORITY JOURNAL; QUESTIONNAIRE; RISK ASSESSMENT; SCREENING TEST; STROKE; VENOUS THROMBOEMBOLISM; COHORT ANALYSIS; GENETIC PREDISPOSITION; GENETIC SCREENING; GENETICS; MEDICAL STAFF; METABOLISM; NORWAY; THROMBOPHILIA; THROMBOSIS;

ACTIVATED PROTEIN C RESISTANCE; COHORT STUDIES; FACTOR V; FAMILY PRACTICE; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC TESTING; HUMANS; MALE; MEDICAL STAFF, HOSPITAL; MUTATION; NORWAY; PHYSICIAN'S PRACTICE PATTERNS; QUESTIONNAIRES; RISK ASSESSMENT; THROMBOPHILIA; THROMBOSIS; VENOUS THROMBOEMBOLISM;

EID: 77954955868     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.33     Document Type: Article

References (22)

1. Cauchi S, El Achhab Y, Choquet H et al: TCF7L2 is reproducibly associated with type 2 diabetes in various ethnic groups: a global meta-analysis. J Mol Med 2007; 85: 777-782.
2. Visvikis-Siest S, Marteau JB: Genetic variants predisposing to cardiovascular disease. Curr Opin Lipidol 2006; 17: 139-151.
3. Burke W, Zimmern RL: Ensuring the appropriate use of genetic tests. Nat Rev Genet 2004; 5: 955-959.
4. Lee R: Factor V Leiden: a clinical review. Am J Med Sci 2001; 322: 88-102.
5. Juul K, Tybjaerg-Hansen A, Schnohr P, Nordestgaard BG: Factor V Leiden and the risk for venous thromboembolism in the adult Danish population. Ann Intern Med 2004; 140: 330-337.
6. Ridker PM, Miletich JP, Hennekens CH, Buring JE: Ethnic distribution of factor V Leiden in 4047 men and women. Implications for venous thromboembolism screening. JAMA 1997; 277: 1305-1307.
7. Nordstrom M, Lindblad B, Bergqvist D, Kjellstrom T: A prospective study of the incidence of deep-vein thrombosis within a defined urban population. J Intern Med 1992; 232: 155-160.
8. Carter CJ: The natural history and epidemiology of venous thrombosis. Prog Cardiovasc Dis 1994; 36: 423-438.
9. Ho WK, Hankey GJ, Quinlan DJ, Eikelboom JW: Risk of recurrent venous thromboem-bolism in patients with common thrombophilia: a systematic review. Arch Intern Med 2006; 166: 729-736.
10. Hron G, Kollars M, Binder BR, Eichinger S, Kyrle PA: Identification of patients at low risk for recurrent venous thromboembolism by measuring thrombin generation. JAMA 2006; 296: 397-402.
11. Christiansen SC, Cannegieter SC, Koster T, Vandenbroucke JP, Rosendaal FR: Throm-bophilia, clinical factors, and recurrent venous thrombotic events. JAMA 2005; 293: 2352-2361.
12. Press RD, Bauer KA, Kujovich JL, Heit JA: Clinical utility of factor V leiden (R506Q) testing for the diagnosis and management of thromboembolic disorders. Arch Pathol Lab Med 2002; 126: 1304-1318.
13. Grody WW, Griffin JH, Taylor AK, Korf BR, Heit JA: American College of Medical Genetics consensus statement on factor V Leiden mutation testing. Genet Med 2001; 3: 139-148.
14. Nicolaides AN, Breddin HK, Carpenter P et al: Thrombophilia and venous thromboem-bolism. International consensus statement. Guidelines according to scientific evidence. Int Angiol 2005; 24: 1-26.
15. Spector EB, Grody WW, Matteson CJ et al: Technical standards and guidelines: venous thromboembolism (Factor V Leiden and prothrombin 20210G4A testing): a disease-specific supplement to the standards and guidelines for clinical genetics laboratories. Genet Med 2005; 7: 444-453.
16. Burke W, Atkins D, Gwinn M et al: Genetic test evaluation: information needs of clinicians, policy makers, and the public. Am J Epidemiol 2002; 156: 311-318.
17. Burke W, Zimmern RL, Kroese M: Defining purpose: a key step in genetic test evaluation. Genet Med 2007; 9: 675-681.
18. Hindorff LA, Burke W, Laberge AM et al: Motivating factors for physician ordering of factor V Leiden genetic tests. Arch Intern Med 2009; 169: 68-74.
19. Bezemer ID, van der Meer FJ, Eikenboom JC, Rosendaal FR, Doggen CJ: The value of family history as a risk indicator for venous thrombosis. Arch Intern Med 2009; 169: 610-615.
20. Couturaud F, Kearon C, Leroyer C et al: Incidence of venous thromboembolism in first-degree relatives of patients with venous thromboembolism who have factor V Leiden. Thromb Haemost 2006; 96: 744-749.
21. Spannagl M, Heinemann LA, Dominh T, Assmann A, Schramm W, Schurmann R: Comparison of incidence/risk of venous thromboembolism (VTE) among selected clinical and hereditary risk markers: a community-based cohort study. Thromb J 2005; 3: 8.
22. Lijfering WM, Brouwer JL, Veeger NJ et al: Selective testing for thrombophilia in patients with first venous thrombosis. Results from a retrospective family cohort study on absolute thrombotic risk for currently known thrombophilic defects in 2479 relatives. Blood 2009; 113: 5314-5322.