Hereditary thrombophilias – recommendations for genetic testing in the clinical praxis

1. Cohen AT, Agnelli G, Anderson FA, et al. Venous thromboembolism (VTE) in Europe. The number of VTE events and associated morbidity and mortality. Thromb Haemost 2007; 98: 756–764.

2. Cushman M. Epidemiology and risk factors for venous thrombosis. Semin Hematol 2007; 44: 62–69.

3. Port SR, Rosendaal FR, Reitsma PH, et al. 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.

4. Sousa NC, Anicchino-Bizzacchi JM, Locatelli MF, Castro V, Barjas-Castro ML. The relationship between AB0 groups and subgroups, factor VIII and von Willebrand factor. Haematologica 2007; 92: 236–239.

5. Rosendaal FR. Venous thrombosis: a multicausal disease. Lancet 1999; 353: 1167–1173.

6. Mansvelt EP, Faffan M, McVey JH, Tuddenham EG. Analysis of F 8 gene in individuals with high plasma factor VIII: C levels and associated venous thrombosis. Thromb Haemostas 1998; 80: 561–565.

7. Kyrle PA, Minar E, Hirschl M, et al. High plasma levels of factor VIII and the risk of recurrent venous thromboembolism. N Engl J Med 2000; 243: 457–462.

8. Gohil R, Peck G, Sharma P. The genetics of venous thromboembolism.A meta-analysis involving 120,000 cases and 180,000 controls. Thromb Haemostas 2009; 102: 360–370.

9. Tybjaerg-Hansen A, Agerholm-Larsen B, Humphries SE, et al. A common mutation (G455-A) in the β-fibrinogen promoter is an independent predictor of plasma fibrinogen, but not of ischemic heart disease. A study of 9,127 individuals based on the Copenhagen City Heart Study. J Clin Invest 1997; 99: 3034–3038.

10. Kvasnička J, Kvasnička J jr. Trombofilie a trombotické stavy v klinické praxi. Praha: Grada Publishing 2003; s. 300.

11. Meijers JCM, Tekelenburg WLH, Bouma BN, et al. High levels of coagulation factor XI as a risk factor for venous thrombosis. N Engl J Med 2000; 342: 696–701.

12. van Hylckama V, Lieg A, van der Linden IK, et al. High levels of factor IX increase the risk of venous thrombosis. Blood 2000; 95: 3678–3682.

13. Geerts WH, Pineo GF, Heit JA, Samama CM, Lassen MR, Colwell CW; American College of Chest Physicians. Prevention of venous thromboembolism: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines (8th Edition). Chest 2008; 133(Suppl): 381–453.

14. Beauchamp NJ, Makris M, Preston FE, et al. Major structural defects in the antithrombin gene in four families with type I antithrombin deficiency. Partial /complete deletions and rearrangement of the antithrombin gene. Thromb Haemost 2000; 83: 715–721.

15. Bertina RM, Koeleman PC, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64–67.

16. Björgell O, Nilsson PE, Nilsson J-A, et al. Location and extent of deep vein thrombosis in patients with and without FV : R 506Q mutation. Thromb Haemost 2000; 83: 648–651.

17. Frosst P, Blom HJ, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995; 10: 111–118.

18. Wu O, Robertson L, Twaddle S, et al. Screening for thrombophilia in high-risk situations: systematic review and cost-effectiveness analysis. The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS). Health Technol Assess 2006; 10 (11): 1–110.

19. Morris ST, Jardine AG. The vascular endothelium in chronic renal failure. J Nephrol 2000; 13: 96–105.

20. Bauer KA. The hypercoagulable states. In: Disorders of hemostasis. Ratnoff OD, Forbes ChD eds. Philadelphia: Saunders Co 1996; s. 228–258.