Activated protein C resistance and factor V Leiden mutation are independent risk factors for venous thromboembolism

Annals of Internal Medicine

Volumn 130, Issue 8, 1999, Pages 643-650

  Rodeghiero, Francesco ^a   Tosetto, Alberto ^a  

^a SAN BORTOLO HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIVATED PROTEIN C; BLOOD CLOTTING FACTOR 5; BLOOD CLOTTING FACTOR 8; ORAL CONTRACEPTIVE AGENT;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DOPPLER ECHOGRAPHY; FEMALE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RISK FACTOR; THROMBOEMBOLISM; VEIN DISEASE;

EID: 0033586755     PISSN: 00034819     EISSN: None     Source Type: Journal    
DOI: 10.7326/0003-4819-130-8-199904200-00004     Document Type: Article

References (44)

1. Briet E, van der Meer FJ, Rosendaal FR, Houwing-Duistermaat JJ. van Houwelingen HC. The family history and inherited thrombophilia. Er J Haematol. 1994;87:348-52.
2. Rodeghiero F, Tosetto A. The epidemiology of inherited thrombophilia: the VITA Project. Thromb Haemost. 1997;78:636-40.
3. Dahlback 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 Sei USA. 1993;90:1004-8.
4. Koster T, Rosendaal FR, de Ronde H, Briet E, Vandenbroucke JP,
5. Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet. 1993;342:1503-6.
6. Dahlbock B. Hildebrand B. Inherited resistance to activated protein C is corrected by anticoagulant cofactor activity found to be a property of factor V. Proc Natl Acad Sei USA. 1994;91:1396-400.
7. Bertina RM, Koeleman BP, Koster T, Rosendaa! FR, Dirven RJ, de Ronde H, et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994;369:64-7.
8. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet. 1995;346:1133-4.
9. Griffin JH, Evatt B, Wideman C, Fernandez JA. Anticoagulant protein C pathway defective in majority of thrombophilic patients. Blood. 1993;82: 1989-93.
10. Svensson PJ, Dahlback B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med. 1994;330:517-2.
11. Zöller B, Svensson PJ, He X, Dahlback B. Identification of the same factor V gene mutation in 47 out of 50 thrombosis-prone families with inherited resistance to activated protein C. J Clin Invest. 1994;94:2521-4.
12. Rodeghiero F, Tosetto A. Some remarks on the epidemiology of thrombotic disorders. Thromb Haemost. 1993;69:527-8.
13. Tosetto A, Missiaglia E, Gatto E, Rodeghiero F. The VITA Project: phenotypic resistance to activated protein C and FV Leiden mutation in the general population. Vicenza Thrombophilia and Atherosclerosis. Thromb Haemost. 1997;78:859-63.
14. Rodeghiero F, Tosetto A. The VITA Project: population-based distribution of protein C, antithrombin 111. heparin-cofactor II and plasminogen-relationship with physiological variables and establishment of reference ranges. Thromb Haemost. 1996;76:226-33.
15. Frezzato M, Tosetto A, Rodeghiero F. Validated questionnaire for the identification of previous personal or familial venous thromboembolism. Am J Epidemiol. 1996;143:1257-65.
16. Hsieh CC. The effect of non-differential outcome misclassification on estimates of the attributable and prevented fraction. Stat Med. 1991;10:361-73.
17. Tosetto A, Frezzato M, Rodeghiero F. Family history and inherited thrombophilia [Letter). Br J Haematol. 1995;89:227-8.
18. Adell K, Ogbonna G. Rapid purification of human DNA from whole blood for potential application in clinical chemistry laboratories. Clin Chem. 1990; 36:261-4.
19. Tripodi A, Negri B, Bertina RM, Mannucci PM. Screening for the FV:Q506 mutation-evaluation of thirteen plasma-based methods for their diagnostic efficacy in comparison with DNA analysis. Thromb Haemost. 1997;77:436-9.
20. Brown K, Luddington R, Williamson D, Baker P, Baglin T. Risk of venous thromboembolism associated with a G to A transition at position 20210 in the 3'-untranslated region of the prothrombin gene. Br J Haematol. 1997;98: 907-9.
21. Chan WP, Lee CK, Kwong YL, Um CK, Liang R. A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. Blood. 1998;91:1135-9.
22. Thiagarajan P, Pengo V. Shapiro SS. The use of dilute Russell viper venom time for the diagnosis of lupus anticoagulants. Blood. 1986;68:869-74.
23. Mari D, Mannucci PM, Duca F, Bertolini S, Franceschi C. Mutant factor V (Arg506Gln) in healthy centenarians [Letter]. Lancet. 1996;347:1044.
24. Hille ET, Westendorp RG, Vandenbroucke JP, Rosendaal FR. Mortality and causes of death in families with the factor V Leiden mutation (resistance to activated protein C). Blood. 1997;89:1963-7.
25. Weiss KM. Genetic Variation and Human Disease: Principles and Evolutionary Aspects. New York: Cambridge Univ Pr; 1993.
26. Clayton DG. Hills M. Statistical Models in Epidemiology. New York: Oxford UnivPr; 1993.
27. Kaplan EL. Meier P. Nonparametric estimation from incomplete observations. Journal of the American Statistical Association. 1958;53:457-81.
28. Kleinbaum DG. Kupper LL, Morgenstern H. Epidemiologie Research: Principles and Quantitative Methods. Belmont, CA: Lifetime Learning; 1982.
29. de Ronde H, Bertina RM. Laboratory diagnosis of APC-resistance: a critical evaluation of the test and the development of diagnostic criteria. Thromb Haemost. 1994;72:880-6.
30. Kleinbaum DG, Kupper LL, Muller KE. Applied Regression Analysis and Other Multivariable Methods. 2d ed. Boston: PWS-Kent; 1988.
31. Stata Corp. Stata Statistical Software: Release 5.0. College Station, TX; Stata Corp.; 1997.
32. Sun X, Evatt B, Griffin JH. Blood coagulation factor Va abnormality associated with resistance to activated protein C in venous thrombophilia. Blood. 1994;83:3120-5.
33. Ridker PM, Hennekens CH, Lindpaintner K, Stampfer MJ, Eisenberg PR, Miletich JP. Mutation in the gene coding for coagulation factor V and the risk of myocardial infarction, stroke, and venous thrombosis in apparently healthy men. N Engl J Med. 1995:332:912-7.
34. Simioni P, Prandoni P, Lensing AW, Scudeller A, Sardella C, Prins MH, et al. The risk of recurrent venous thromboembolism in patients with an Arg506-Gln mutation in the gene for factor V (factor V Leiden). N Engl J Med. 1997;336:399-403.
35. van den Belt AG, Bossuyt PM. Prins MH, Callus AS, Buller HR. Replacing inpatient care by outpatient care in the treatment of deep vein thrombosis-an economic evaluation. TASMAN Study Group. Thromb Haemost. 1998; 79:259-63.
36. Ryan DH. Crowther MA, Ginsberg JS. Francis CW. Relation of factor V Leiden genotype to risk for acute deep venous thrombosis after joint replacement surgery. Ann Intern Med. 1998; 128:270-6.
37. Vandenbroucke JP, van der Meer FJ, Heimerhorst FM, Rosendaal FR. Factor V Leiden: should we screen oral contraceptive users and pregnant women? BMJ. 1996;313:1127-30.
38. Tosetto A, Missiaglia E, Martinelli l. De Stefano V, Rodeghiero F. Additional genetic risk factors for venous thromboembolism in carriers of FV Leiden [Abstract]. Br J Haematol. 1998;102:147.
39. Williamson D, Brown K. Luddington R, Baglin C, Baglin T. Factor V Cambridge: a new mutation (Arg Thr) associated with resistance to activated protein C. Blood. 1998;91:1140-4.
40. Ehrenforth S, Radtke KP, Scharrer I. Acquired activated protein C-resistance in patients with lupus anticoagulants [Letter]. Thromb Haemost. 1995; 73:797-8.
41. Faioni EM, Franchi F, Asti D, Mannucci PM. Acquired resistance to activated protein C develops during pregnancy [Abstract]. Thromb Haemost. 1995;73:1375.
42. Rao AK, Elliott D, Stadnicki A, DeLa Cadena R. High levels of plasma FVII1C impair anticoagulant response to activated protein C. [Abstract]. Thromb Haemost. 1995;73:1126.
43. Koster T, Blann AD, Briet E, Vandenbroucke JP, Rosendaal FR. Role of clotting factor VIII in effect of von Willebrand factor on occurrence of deepvein thrombosis. Lancet. 1995:345:152-5.
44. De Visser MC, Rosendaal FR, Bertina RM. Activated protein C resistance not associated with factor V Leiden is a risk factor for venous thrombosis [Abstract]. Br J Haematol. 1998;102:146.