Risk of recurrent venous thrombosis in homozygous carriers and double heterozygous carriers of factor v leiden and prothrombin G20210A

Circulation

Volumn 121, Issue 15, 2010, Pages 1706-1712

  Lijfering, Willem M ^a,e   Middeldorp, Saskia ^b,e   Veeger, Nic J G M ^a   Hamulyák, Karly ^c   Prins, Martin H ^d   Büller, Harry R ^b   Van Der Meer, Jan ^a  

^a UNIVERSITY MEDICAL CENTER GRONINGEN   (Netherlands)

^b ACADEMIC MEDICAL CENTER   (Netherlands)

^c Departments of Hematology   (United States)

^d MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^e LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Epidemiology; Genes; Risk factors; Thrombosis

Indexed keywords

BLOOD CLOTTING FACTOR 5 LEIDEN; PROTHROMBIN;

ADULT; ARTICLE; CASE CONTROL STUDY; FEMALE; GENE MUTATION; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RECURRENCE RISK; RECURRENT DISEASE; THROMBOPHILIA; VEIN THROMBOSIS;

ADULT; CASE-CONTROL STUDIES; FACTOR V; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HOMOZYGOTE; HUMAN GROWTH HORMONE; HUMANS; MALE; MIDDLE AGED; PREVALENCE; PROTHROMBIN; RECURRENCE; RISK FACTORS; VENOUS THROMBOSIS; YOUNG ADULT;

EID: 77951428695     PISSN: 00097322     EISSN: 15244539     Source Type: Journal    
DOI: 10.1161/CIRCULATIONAHA.109.906347     Document Type: Article

References (31)

1. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet. 1995;346:1133-1134.
2. Rosendaal FR, Doggen CJ, Zivelin A, Arruda VR, Aiach M, Siscovick DS, Hillarp A, Watzke HH, Bernardi F, Cumming AM, Preston FE, Reitsma PH. Geographic distribution of the 20210 G to A prothrombin variant. Thromb Haemost. 1998;79:706-708.
3. Emmerich J, Rosendaal FR, Cattaneo M, Margaglione M, De Stefano V, Cumming T, Arruda V, Hillarp A, Reny JL; Study Group for Pooled Analysis in Venous Thromboembolism. Combined effect of factor V Leiden and prothrombin 20210A on the risk of venous thromboembolism: pooled analysis of 8 case-control studies including 2310 cases and 3204 controls. Thromb Haemost. 2001;86:809-816.
4. Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood. 1995;85:1504-1508.
5. Poort SR, Rosendaal FR, Reitsma PH, Bertina RM. A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. Blood. 1996;88:3698-3703.
6. Middeldorp S, Meinardi JR, Koopman MM, van Pampus EC, Hamulyák K, van der Meer J, Prins MH, Büller HR. A prospective study of asymptomatic carriers of the factor V Leiden mutation to determine the incidence of venous thromboembolism. Ann Intern Med. 2001;135: 322-327.
7. Coppens M, van de Poel MH, Bank I, Hamulyak K, van der Meer J, Veeger NJ, Prins MH, Buller HR, Middeldorp S. A prospective cohort study on the absolute incidence of venous thromboembolism and arterial cardiovascular disease in asymptomatic carriers of the prothrombin 20210A mutation. Blood. 2006;108:2604-2607.
8. 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.
9. Siragusa S, Caramazza D, Malato A. How should we determine length of anticoagulation after proximal deep vein thrombosis of the lower limbs? Br J Haematol. 2009;144:832-837.
10. Christiansen SC, Cannegieter SC, Koster T, Vandenbroucke JP, Rosendaal FR. Thrombophilia, clinical factors, and recurrent venous thrombotic events. JAMA. 2005;293:2352-2361.
11. Baglin T, Luddington R, Brown K, Baglin C. Incidence of recurrent venous thromboembolism in relation to clinical and thrombophilic risk factors: prospective cohort study. Lancet. 2003;362:523-526.
12. De Stefano V, Martinelli I, Mannucci PM, Paciaroni K, Chiusolo P, Casorelli I, Rossi E, Leone G. The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. N Engl J Med. 1999;341:801-806.
13. Lindmarker P, Schulman S, Sten-Linder M, Wiman B, Egberg N, Johnsson H; DURAC (Duration of Anticoagulation) Trial Study Group. The risk of recurrent venous thromboembolism in carriers and non-carriers of the G1691A allele in the coagulation factor V gene and the G20210A allele in the prothrombin gene. Thromb Haemost. 1999;81: 684-689.
14. Procare Group. Is recurrent venous thromboembolism more frequent in homozygous patients for the factor V Leiden mutation than in heterozygous patients? Blood Coagul Fibrinolysis. 2003;14:523-529.
15. Lijfering WM, Brouwer JL, Veeger NJ, Bank I, Coppens M, Middeldorp S, Hamulyák K, Prins MH, Büller HR, van der Meer J. 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.
16. Brouwer JL, Veeger NJ, Kluin-Nelemans HC, van der Meer J. The pathogenesis of venous thromboembolism: evidence for multiple interrelated causes. Ann Intern Med. 2006;145:807-815.
17. Brouwer JL, Veeger NJ, van der Schaaf W, Kluin-Nelemans HC, van der Meer J. Difference in absolute risk of venous and arterial thrombosis between familial protein S deficiency type I and type III: results from a family cohort study to assess the clinical impact of a laboratory test-based classification. Br J Haematol. 2005;128:703-710.
18. Middeldorp S, Henkens CM, Koopman MM, van Pampus EC, Hamulyák K, van der Meer J, Prins MH, Büller HR. The incidence of venous thromboembolism in family members of patients with factor V Leiden mutation and venous thrombosis. Ann Intern Med. 1998;128:15-20.
19. Libourel EJ, Bank I, Meinardi JR, Baljé-Volkers CP, Hamulyak K, Middeldorp S, Koopman MM, van Pampus EC, Prins MH, Büller HR, van der Meer J. Co-segregation of thrombophilic disorders in factor V Leiden carriers: the contributions of factor VIII, factor XI, thrombin activatable fibrinolysis inhibitor and lipoprotein (a) to the absolute risk of venous thromboembolism. Haematologica. 2002;87:1068-1073.
20. Bank I, Libourel EJ, Middeldorp S, Hamulyák K, van Pampus EC, Koopman MM, Prins MH, van der Meer J, Büller HR. Elevated levels of FVIII:C within families are associated with an increased risk for venous and arterial thrombosis. J Thromb Haemost. 2005;3:79-84.
21. Bank I, Libourel EJ, Middeldorp S, Van Pampus EC, Koopman MM, Hamulyák K, Prins MH, Van Der Meer J, Büller HR. Prothrombin 20210A mutation: a mild risk factor for venous thromboembolism but not for arterial thrombotic disease and pregnancy-related complications in a family study. Arch Intern Med. 2004;164:1932-1937.
22. Lijfering WM, Coppens M, van de Poel MH, Middeldorp S, Hamulyák K, Bank I, Veeger NJ, Prins MH, Büller HR, van der Meer J. The risk of venous and arterial thrombosis in hyperhomocysteinaemia is low and mainly depends on concomitant thrombophilic defects. Thromb Haemost. 2007;98:457-463.
23. Frezzato M, Tosetto A, Rodeghiero F. Validated questionnaire for the identification of previous personal or familial venous thromboembolism. Am J Epidemiol. 1996;143:1257-1265.
24. Bounameaux H. Factor V Leiden paradox: risk of deep-vein thrombosis but not of pulmonary embolism. Lancet. 2000;356:182-183.
25. Morabia A, Ten Have T, Landis JR. Empirical evaluation of the influence of control selection schemes on relative risk estimation: the Welsh nickel workers study. Occup Environ Med. 1995;52:489-493.
26. Miettinen O. Estimability and estimation in case-referent studies. Am J Epidemiol. 1976;103:226-235.
27. Eichinger S, Weltermann A, Mannhalter C, Minar E, Bialonczyk C, Hirschl M, Schönauer V, Lechner K, Kyrle PA. The risk of recurrent venous thromboembolism in heterozygous carriers of factor V Leiden and a first spontaneous venous thromboembolism. Arch Intern Med. 2002; 162:2357-2360.
28. Eichinger S, Minar E, Hirschl M, Bialonczyk C, Stain M, Mannhalter C, Stümpflen A, Schneider B, Lechner K, Kyrle PA. The risk of early recurrent venous thromboembolism after oral anticoagulant therapy in patients with the G20210A transition in the prothrombin gene. Thromb Haemost. 1999;81:14-17.
29. Ho WK, Hankey GJ, Quinlan DJ, Eikelboom JW. Risk of recurrent venous thromboembolism in patients with common thrombophilia: a systematic review. Arch Intern Med. 2006;166:729-736.
30. Segal JB, Brotman DJ, Necochea AJ, Emadi A, Samal L, Wilson LM, Crim MT, Bass EB. Predictive value of factor V Leiden and prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic review. JAMA. 2009; 301:2472-2485.
31. Cohn D, Vansenne F, de Borgie C, Middeldorp S. Thrombophilia testing for prevention of recurrent venous thromboembolism. Cochrane Database Syst Rev. 2009;(1):CD007069.