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Semin Respir Crit Care Med 2012; 33(02): 127-137
DOI: 10.1055/s-0032-1311791
DOI: 10.1055/s-0032-1311791
Inherited and Acquired Risk Factors for Venous Thromboembolism
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Publication History
Publication Date:
30 May 2012 (online)
Abstract
Venous thrombosis, or venous thromboembolism, comprises deep vein thrombosis with or without symptomatic pulmonary embolus. The development of symptomatic venous thrombosis is highly dependent on gene–environment interaction. In most instances this interaction results in hypercoagulability (the intermediate phenotype) sufficient to result in intraluminal clot formation (the disease phenotype). The genetic framework underlying venous thrombosis is complex, and there is a large material contribution from disease and interaction with environmental factors. For example, venous thrombosis is related to recent hospitalization in approximately half of all adult cases. After a first episode of venous thrombosis patients are 40 times more likely to suffer a further event compared with previously unaffected individuals. However, the risk differs between patients. Duration of anticoagulation (lifelong or not) should be made with reference to whether an episode of thrombosis was provoked and the presence of other risk factors. The results of testing for heritable thrombophilia rarely influence duration of treatment.
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References
- 1 Rosendaal FR. Venous thrombosis: a multicausal disease. Lancet 1999; 353 (9159) 1167-1173
- 2 Agnelli G, Becattini C. Venous thromboembolism and atherosclerosis: common denominators or different diseases?. J Thromb Haemost 2006; 4 (9) 1886-1890
- 3 Goldhaber SZ. Preventing pulmonary embolism and deep vein thrombosis: a 'call to action' for vascular medicine specialists. J Thromb Haemost 2007; 5 (8) 1607-1609
- 4 Spencer FA, Lessard D, Emery C, Reed G, Goldberg RJ. Venous thromboembolism in the outpatient setting. Arch Intern Med 2007; 167 (14) 1471-1475
- 5 Sweetland S, Green J, Liu B , et al; Million Women Study Collaborators. Duration and magnitude of the postoperative risk of venous thromboembolism in middle aged women: prospective cohort study. BMJ 2009; 339: b4583
- 6 Tapson VF, Decousus H, Pini M , et al; IMPROVE Investigators. Venous thromboembolism prophylaxis in acutely ill hospitalized medical patients: findings from the International Medical Prevention Registry on Venous Thromboembolism. Chest 2007; 132 (3) 936-945
- 7 van Boven HH, Vandenbroucke JP, Briët E, Rosendaal FR. Gene-gene and gene-environment interactions determine risk of thrombosis in families with inherited antithrombin deficiency. Blood 1999; 94 (8) 2590-2594
- 8 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 (9383) 523-526
- 9 Iorio A, Kearon C, Filippucci E , et al. Risk of recurrence after a first episode of symptomatic venous thromboembolism provoked by a transient risk factor: a systematic review. Arch Intern Med 2010; 170 (19) 1710-1716
- 10 Egeberg O. Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 1965; 13: 516-530
- 11 Griffin JH, Evatt B, Zimmerman TS, Kleiss AJ, Wideman C. Deficiency of protein C in congenital thrombotic disease. J Clin Invest 1981; 68 (5) 1370-1373
- 12 Comp PC, Nixon RR, Cooper MR, Esmon CT. Familial protein S deficiency is associated with recurrent thrombosis. J Clin Invest 1984; 74 (6) 2082-2088
- 13 Bertina RM, Koeleman BP, Koster T , et al. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369 (6475) 64-67
- 14 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 (10) 3698-3703
- 15 Reitsma PH, Rosendaal FR. Past and future of genetic research in thrombosis. J Thromb Haemost 2007; 5 (Suppl. 01) 264-269
- 16 Bucciarelli P, Rosendaal FR, Tripodi A , et al. Risk of venous thromboembolism and clinical manifestations in carriers of antithrombin, protein C, protein S deficiency, or activated protein C resistance: a multicenter collaborative family study. Arterioscler Thromb Vasc Biol 1999; 19 (4) 1026-1033
- 17 De Stefano V, Simioni P, Rossi E , et al. The risk of recurrent venous thromboembolism in patients with inherited deficiency of natural anticoagulants antithrombin, protein C and protein S. Haematologica 2006; 91 (5) 695-698
- 18 Pabinger I, Schneider B. ; Gesellschaft fur Thrombose- und Hamostaseforschung (GTH) Study Group on Natural Inhibitors. Thrombotic risk in hereditary antithrombin III, protein C, or protein S deficiency. A cooperative, retrospective study. Arterioscler Thromb Vasc Biol 1996; 16 (6) 742-748
- 19 Vossen CY, Walker ID, Svensson P , et al. Recurrence rate after a first venous thrombosis in patients with familial thrombophilia. Arterioscler Thromb Vasc Biol 2005; 25 (9) 1992-1997
- 20 Greaves M, Baglin T. Laboratory testing for heritable thrombophilia: impact on clinical management of thrombotic disease annotation. Br J Haematol 2000; 109 (4) 699-703
- 21 Christiansen SC, Cannegieter SC, Koster T, Vandenbroucke JP, Rosendaal FR. Thrombophilia, clinical factors, and recurrent venous thrombotic events. JAMA 2005; 293 (19) 2352-2361
- 22 Marchiori A, Mosena L, Prins MH, Prandoni P. The risk of recurrent venous thromboembolism among heterozygous carriers of factor V Leiden or prothrombin G20210A mutation. A systematic review of prospective studies. Haematologica 2007; 92 (8) 1107-1114
- 23 Middeldorp S, van Hylckama Vlieg A. Does thrombophilia testing help in the clinical management of patients?. Br J Haematol 2008; 143 (3) 321-335
- 24 Coppens M, Reijnders JH, Middeldorp S, Doggen CJ, Rosendaal FR. Testing for inherited thrombophilia does not reduce the recurrence of venous thrombosis. J Thromb Haemost 2008; 6 (9) 1474-1477
- 25 Baglin T. Unraveling the thrombophilia paradox: from hypercoagulability to the prothrombotic state. J Thromb Haemost 2010; 8 (2) 228-233
- 26 Bezemer ID, Bare LA, Doggen CJ , et al. Gene variants associated with deep vein thrombosis. JAMA 2008; 299 (11) 1306-1314
- 27 van Hylckama Vlieg A, Baglin CA, Bare LA, Rosendaal FR, Baglin TP. Proof of principle of potential clinical utility of multiple SNP analysis for prediction of recurrent venous thrombosis. J Thromb Haemost 2008; 6 (5) 751-754
- 28 Baglin T, Gray E, Greaves M , et al; British Committee for Standards in Haematology. Clinical guidelines for testing for heritable thrombophilia. Br J Haematol 2010; 149 (2) 209-220
- 29 Baglin T. Communicating benefit and risk. Br J Haematol 2009; 146 (1) 31-33
- 30 Naess IA, Christiansen SC, Romundstad P, Cannegieter SC, Rosendaal FR, Hammerstrøm J. Incidence and mortality of venous thrombosis: a population-based study. J Thromb Haemost 2007; 5 (4) 692-699
- 31 Silverstein MD, Heit JA, Mohr DN, Petterson TM, O'Fallon WM, Melton III LJ. Trends in the incidence of deep vein thrombosis and pulmonary embolism: a 25-year population-based study. Arch Intern Med 1998; 158 (6) 585-593
- 32 Heit JA, O'Fallon WM, Petterson TM , et al. Relative impact of risk factors for deep vein thrombosis and pulmonary embolism: a population-based study. Arch Intern Med 2002; 162 (11) 1245-1248
- 33 Zhan C, Miller MR. Excess length of stay, charges, and mortality attributable to medical injuries during hospitalization. JAMA 2003; 290 (14) 1868-1874
- 34 Sharrock NE, Go G, Mineo R, Harpel PC. The hemodynamic and fibrinolytic response to low dose epinephrine and phenylephrine infusions during total hip replacement under epidural anesthesia. Thromb Haemost 1992; 68 (4) 436-441
- 35 Prins MH, Hirsh J. A comparison of general anesthesia and regional anesthesia as a risk factor for deep vein thrombosis following hip surgery: a critical review. Thromb Haemost 1990; 64 (4) 497-500
- 36 Pearse EO, Caldwell BF, Lockwood RJ, Hollard J. Early mobilisation after conventional knee replacement may reduce the risk of postoperative venous thromboembolism. J Bone Joint Surg Br 2007; 89 (3) 316-322
- 37 Huo MH, Muntz J. Extended thromboprophylaxis with low-molecular-weight heparins after hospital discharge in high-risk surgical and medical patients: a review. Clin Ther 2009; 31 (6) 1129-1141
- 38 Goldhaber SZ, Tapson VF. ; DVT FREE Steering Committee. A prospective registry of 5,451 patients with ultrasound-confirmed deep vein thrombosis. Am J Cardiol 2004; 93 (2) 259-262
- 39 Geerts WH, Bergqvist D, Pineo GF , et al; American College of Chest Physicians. Prevention of venous thromboembolism: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines (8th Edition). Chest 2008; 133 (6, Suppl) 381S-453S
- 40 Baglin T. Defining the population in need of thromboprophylaxis—making hospitals safer. Br J Haematol 2010; 149 (6) 805-812
- 41 Cohen AT, Edmondson RA, Phillips MJ, Ward VP, Kakkar VV. The changing pattern of venous thromboembolic disease. Haemostasis 1996; 26 (2) 65-71
- 42 Goldhaber SZ, Dunn K, MacDougall RC. New onset of venous thromboembolism among hospitalized patients at Brigham and Women's Hospital is caused more often by prophylaxis failure than by withholding treatment. Chest 2000; 118 (6) 1680-1684
- 43 Cohen AT, Alikhan R, Arcelus JI , et al. Assessment of venous thromboembolism risk and the benefits of thromboprophylaxis in medical patients. Thromb Haemost 2005; 94 (4) 750-759
- 44 Francis CW. Clinical practice: prophylaxis for thromboembolism in hospitalized medical patients. N Engl J Med 2007; 356 (14) 1438-1444
- 45 Geerts W. Prevention of venous thromboembolism: a key patient safety priority. J Thromb Haemost 2009; 7 (Suppl. 01) 1-8
- 46 Buller HR, van Doormaal FF, van Sluis GL, Kamphuisen PW. Cancer and thrombosis: from molecular mechanisms to clinical presentations. J Thromb Haemost 2007; 5 (Suppl. 01) 246-254
- 47 Blom JW, Doggen CJ, Osanto S, Rosendaal FR. Malignancies, prothrombotic mutations, and the risk of venous thrombosis. JAMA 2005; 293 (6) 715-722
- 48 Chew HK, Wun T, Harvey D, Zhou H, White RH. Incidence of venous thromboembolism and its effect on survival among patients with common cancers. Arch Intern Med 2006; 166 (4) 458-464
- 49 Prandoni P, Lensing AW, Piccioli A , et al. Recurrent venous thromboembolism and bleeding complications during anticoagulant treatment in patients with cancer and venous thrombosis. Blood 2002; 100 (10) 3484-3488
- 50 Khorana AA, Kuderer NM, Culakova E, Lyman GH, Francis CW. Development and validation of a predictive model for chemotherapy-associated thrombosis. Blood 2008; 111 (10) 4902-4907
- 51 James AH, Jamison MG, Brancazio LR, Myers ER. Venous thromboembolism during pregnancy and the postpartum period: incidence, risk factors, and mortality. Am J Obstet Gynecol 2006; 194 (5) 1311-1315
- 52 Rosendaal FR, Van Hylckama Vlieg A, Tanis BC, Helmerhorst FM. Estrogens, progestogens and thrombosis. J Thromb Haemost 2003; 1 (7) 1371-1380
- 53 Koster T, Small RA, Rosendaal FR, Helmerhorst FM. Oral contraceptives and venous thromboembolism: a quantitative discussion of the uncertainties. J Intern Med 1995; 238 (1) 31-37
- 54 Lidegaard O, Løkkegaard E, Svendsen AL, Agger C. Hormonal contraception and risk of venous thromboembolism: national follow-up study. BMJ 2009; 339: b2890
- 55 Pomp ER, le Cessie S, Rosendaal FR, Doggen CJ. Risk of venous thrombosis: obesity and its joint effect with oral contraceptive use and prothrombotic mutations. Br J Haematol 2007; 139 (2) 289-296
- 56 Pomp ER, Rosendaal FR, Doggen CJ. Smoking increases the risk of venous thrombosis and acts synergistically with oral contraceptive use. Am J Hematol 2008; 83 (2) 97-102
- 57 Douketis J, Tosetto A, Marcucci M , et al. Risk of recurrence after venous thromboembolism in men and women: patient level meta-analysis. BMJ 2011; 342: d813
- 58 Canonico M, Plu-Bureau G, Lowe GD, Scarabin PY. Hormone replacement therapy and risk of venous thromboembolism in postmenopausal women: systematic review and meta-analysis. BMJ 2008; 336 (7655) 1227-1231
- 59 Wu O, Robertson L, Langhorne P , et al. Oral contraceptives, hormone replacement therapy, thrombophilias and risk of venous thromboembolism: a systematic review. The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) Study. Thromb Haemost 2005; 94 (1) 17-25
- 60 Miyakis S, Lockshin MD, Atsumi T , et al. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost 2006; 4 (2) 295-306
- 61 Galli M, Luciani D, Bertolini G, Barbui T. Lupus anticoagulants are stronger risk factors for thrombosis than anticardiolipin antibodies in the antiphospholipid syndrome: a systematic review of the literature. Blood 2003; 101 (5) 1827-1832
- 62 Lim W, Crowther MA, Eikelboom JW. Management of antiphospholipid antibody syndrome: a systematic review. JAMA 2006; 295 (9) 1050-1057
- 63 Baglin C, Brown K, Luddington R, Baglin T. ; East Anglian Thrombophilia Study Group. Risk of recurrent venous thromboembolism in patients with the factor V Leiden (FVR506Q) mutation: effect of warfarin and prediction by precipitating factors. Br J Haematol 1998; 100 (4) 764-768
- 64 Kearon C, Julian JA, Kovacs MJ , et al; ELATE Investigators. Influence of thrombophilia on risk of recurrent venous thromboembolism while on warfarin: results from a randomized trial. Blood 2008; 112 (12) 4432-4436
- 65 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 (7) 729-736
- 66 Langlois NJ, Wells PS. Risk of venous thromboembolism in relatives of symptomatic probands with thrombophilia: a systematic review. Thromb Haemost 2003; 90 (1) 17-26
- 67 Tormene D, Simioni P, Pagnan A, Prandoni P. The G20210A prothrombin gene mutation: is there room for screening families?. J Thromb Haemost 2004; 2 (8) 1487-1488
- 68 Lisman T, de Groot PG, Meijers JC, Rosendaal FR. Reduced plasma fibrinolytic potential is a risk factor for venous thrombosis. Blood 2005; 105 (3) 1102-1105
- 69 Meltzer ME, Lisman T, Doggen CJ, de Groot PG, Rosendaal FR. Synergistic effects of hypofibrinolysis and genetic and acquired risk factors on the risk of a first venous thrombosis. PLoS Med 2008; 5 (5) e97
- 70 Brown K, Luddington R, Baglin T. Effect of the MTHFRC677T variant on risk of venous thromboembolism: interaction with factor V Leiden and prothrombin (F2G20210A) mutations. Br J Haematol 1998; 103 (1) 42-44
- 71 Bezemer ID, Doggen CJ, Vos HL, Rosendaal FR. No association between the common MTHFR 677C->T polymorphism and venous thrombosis: results from the MEGA study. Arch Intern Med 2007; 167 (5) 497-501