The incidence of venous thromboembolism in carriers of antithrombin, protein C or protein S deficiency associated with the HR2 haplotype of factor V: A family cohort study

Journal of Thrombosis and Haemostasis

Volumn 3, Issue 7, 2005, Pages 1414-1420

  Tormene, D ^a   Fortuna, S ^a   Tognin, G ^a   Gavasso, S ^a   Pagnan, A ^a   Prandoni, P ^a   Simioni, Paolo ^a  

^a UNIVERSITY OF PADUA MEDICAL SCHOOL   (Italy)

Author keywords

Clotting inhibitors deficiency; Familial thrombophilia; HR2 haplotype

Indexed keywords

ANTITHROMBIN; BLOOD CLOTTING FACTOR 5; PROTEIN C; PROTEIN S;

ADOLESCENT; ADULT; AGED; ANTITHROMBIN DEFICIENCY; ARTICLE; BLOOD CLOTTING DISORDER; COHORT ANALYSIS; CONTROLLED STUDY; DISEASE ASSOCIATION; FAMILIAL DISEASE; FAMILY STUDY; FEMALE; GENETIC ASSOCIATION; HAPLOTYPE; HUMAN; INCIDENCE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROTEIN C DEFICIENCY; PROTEIN S DEFICIENCY; RISK FACTOR; VENOUS THROMBOEMBOLISM; AGE; DISEASE FREE SURVIVAL; FAMILY HEALTH; GENETICS; HETEROZYGOTE; LUNG EMBOLISM; MIDDLE AGED; PROSPECTIVE STUDY; RETROSPECTIVE STUDY; RISK; THROMBOSIS; TIME; VEIN THROMBOSIS;

ADULT; AGE FACTORS; AGED; ANTITHROMBINS; BLOOD COAGULATION DISORDERS; COHORT STUDIES; DISEASE-FREE SURVIVAL; FACTOR V; FAMILY HEALTH; FEMALE; HAPLOTYPES; HETEROZYGOTE; HUMANS; INCIDENCE; MALE; MIDDLE AGED; PROSPECTIVE STUDIES; PROTEIN C; PROTEIN C DEFICIENCY; PROTEIN S DEFICIENCY; PULMONARY EMBOLISM; RETROSPECTIVE STUDIES; RISK; THROMBOSIS; TIME FACTORS; VENOUS THROMBOSIS;

EID: 25144484459     PISSN: 15387933     EISSN: 15387836     Source Type: Journal    
DOI: 10.1111/j.1538-7836.2005.01308.x     Document Type: Article

References (23)

1. Zoller B, Berntsdotter A, Garcia de Frutos P, Dahlback B. Resistance to activated protein C as an additional genetic risk factor in hereditary deficiency of protein S. Blood 1995; 85: 3518-23.
2. Koeleman BP, Reitsma PH, Allaart CF, Bertina RM. Activated protein C resistance as an additional risk factor for thrombosis in protein C-deficient families. Blood 1994; 84: 1031-5.
3. Koeleman BP, van Rumpt D, Hamulyak K, Reitsma PH, Bertina RM. Factor V Leiden: an additional risk factor for thrombosis in protein S deficient families? Thromb Haemost 1995; 74: 580-3.
4. van Boven HH, Reitsma PH, Rosendaal FR, Bayston TA, Chowdhury V, Bauer KA, Scharrer I, Conard J, Lane DA. Factor V Leiden (FV R506Q) in families with inherited antithrombin deficiency. Thromb Haemost 1996; 75: 417-21.
5. Emmerich J, Rosendaal FR, Cattaneo M, Margaglione M, De Stefano V, Cumming T, Arruda V, Hillarp A, Reny JL. 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. Study Group for Pooled-Anal Venous Thromboembolism. Thromb Haemost 2001; 86: 809-16.
6. Martinelli I, Bucciarelli P, Margaglione M, De Stefano V, Castaman G, Mannucci PM. The risk of thromboembolism in family members with mutations in genes of factor V or prothrombin or both. Br J Haematol 2000; 111: 1223-9.
7. Lunghi B, Iacoviello L, Gemmati D, Dilasio MG, Castoldi E, Pinotti M, Castaman G, Redaelli R, Mariani G, Marchetti G, Bernardi F. Detection of new polymorphic markers in the factor V gene: association with factor V levels in plasma. Thromb Haemost 1996; 75: 45-8.
8. Bernardi F, Faioni EM, Castoldi E, Lunghi B, Castaman G, Sacchi E, Mannucci PM. A factor V genetic component differing from factor V R506Q contributes to the activated protein C resistance phenotype. Blood 1997; 90: 1552-7.
9. De Visser MC, Guasch JF, Kamphuisen PW, Vos HL, Rosendaal FR, Bertina RM. The HR2 haplotype of factor V. effects on factor levels, normalized activated protein C sensitivity ratios and the risk of venous thrombosis. Thromb Haemost 2000; 83: 577-82.
10. Alhenc-Gelas M, Nicaud V, Gandrille S, van Dreden P, Amiral J, Aubry ML, Fiessinger JN, Emmerich J, Aiach M. The factor V gene A4070G mutation and the risk of venous thrombosis. Thromb Haemost 1999; 81: 193-7.
11. Akar N, Akar E, Yilmaz E. Factor V (His 1229 Arg) in Turkish patients with venous thromboembolism. Am J Haematol 2000; 63: 102-3.
12. Luddington R, Jackson A, Pannerselvam S, Brown K, Baglin T. The factor V, R2 allele: risk of venous thromboembolism, factor V levels and resistance to activated protein C. Thromb Haemost 2001; 83: 204-8.
13. Benson JM, Ellingsen D, El-Jamil M, Jenkins M, Miller CH, Dilley A, Evatt BL, Hooper WC. Factor V Leiden and factor V, R2 allele: high-throughput analysis and association with venous thromboembolism. Thromb Haemost 2002; 86: 1188-92.
14. Margaglione M, Bossone A, Coalizzo D, D'Andrea G, Brancaccio V, Ciampa A, Grandone E, Di MG. FV HR2 haplotype as additional inherited risk factor for deep vein thrombosis in individuals with a high-risk profile. Thromb Haemost 2002; 87: 32-6.
15. Folsom AR, Cushman M, Tsai MY, Aleksic N, Heckbert SR, Boland LL, Tsai AW, Yanez ND, Rosamond WD. A prospective study of venous thromboembolism in relation to factor V Leiden and related factors. Blood 2002; 99: 2720-5.
16. Kostka H, Schwarz T, Schellong S, Mix C, Kuhlisch E, Temelkova- Kurktschiev T, Henkel E, Kohler C, Gehrisch S, Siegert G. Coagulation factor V G allele and haplotype: factor V activity, activated protein C resistance and risk of venous thrombosis. Blood Coagul Fibrinolysis 2003; 14: 49-56.
17. Faioni EM, Franchi F, Bucciarelli P, Margaglione M, De Stefano V, Castaman G, Finazzi G, Mannucci PM. Coinheritance of the HR2 haplotype in the factor V gene confers an increased risk of venous thromboembolism to carriers of factor V R506Q (factor V Leiden). Blood 1999; 94: 3062-6.
18. Castaman G, Faioni EM, Tosetto A, Bernardi F. The factor V HR2 haplotype and the risk of venous thrombosis: a meta-analysis. Haematologica 2003; 88: 1182-9.
19. Faioni EM, Castaman G, Asti D, Lussana F, Rodeghiero F. Association of factor V deficiency with factor V HR2. Haematologica 2004; 89: 195-200.
20. Kalafatis M, Simioni P, Bernardi F. Phenotype and genotype expression in pseudohomozygous R2 factor V. Blood 2001; 98: 1988-9.
21. Simioni P, Sanson BJ, Prandoni P, Tormene D, Friederich PW, Girolami B, Gavasso S, Huisman MV, Buller HR, Wouter ten Cate J, Girolami A, Prins MH. Incidence of venous thromboembolism in families with inherited thrombophilia. Thromb Haemost 1999; 81: 198-202.
22. Sanson BJ, Simioni P, Tormene D, Moia M, Friederich PW, Huisman MV, Prandoni P, Bura A, Rejto L, Wells P, Mannucci PM, Girolami A, Buller HR, Prins MH. The incidence of venous thromboembolism in asymptomatic carriers of a deficiency of antithrombin, protein C, or protein S. a prospective cohort study. Blood 1999; 94: 3702-6.
23. Simioni P, Tormene D, Manfrin D, Gavasso S, Luni S, Stocco D, Girolami A. Prothrombin antigen levels in symptomatic and asymptomatic carriers of the 20210A prothrombin variant. Br J Haematol 1998; 103: 1045-50.