Diagnóstico y tratamiento de las trombofilias hereditarias

Referencias
1 Lijfering WM, Rosendaal FR, Cannegieter SC. Risk factors for venous thrombosis—current understanding from an epidemiological point of view. Br J Haematol 2010; 149:824-33.
2 Miyakis S, Lockshin MD, Atsumi T, Branch DW, Brey RL, Cervera R, et al. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost 2006; 4:295-306.
3 Keeling D, Mackie I, Moore GW, Greer IA, Greaves M. Guidelines on the investigation and management of antiphospholipid syndrome. Br J Haematol 2012;157: 47-58.
4 Dahlback B. Advances in understanding pathogenic mechanisms of thrombophilic
disorders. Blood 2008; 112:19-27.
5 Baglin T, Gray E, Greaves M, Hunt BJ, Keeling D, Machin S, et al. Clinical guidelines for testing for heritable thrombophilia. Br J Haematol 2010; 149:209-20.
6 National Institute for Health and Care Excellence. Venous thromboembolic diseases: the management of venous thromboembolic diseases and the role of thrombophilia testing. London, 2012. www.nice.org.uk.
7 Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995; 346:1133-4.
8 Zoller B, Norlund L, Leksell H, Nilsson JE, von Schenck H, Rosen U, et al. High prevalence of the FVR506Q mutation causing APC resistance in a region of southern Sweden with a high incidence of venous thrombosis. Thromb Res 1996; 83:475-7.
9 Bertina RM, Koeleman BP, Koster T, Rosendaal 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.
10 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; 140:330-7.
11 Gohil R, Peck G, Sharma P. The genetics of venous thromboembolism. A meta-analysis involving approximately 120,000 cases and 180,000 controls. Thromb Haemost 2009; 102:360-70.
12 Simone B, De Stefano V, Leoncini E, Zacho J, Martinelli I, Emmerich J, et al. Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls. Eur J Epidemiol 2013; 28:621-47.
13 Rodeghiero F, Tosetto A. Activated protein C resistance and factor V Leiden mutation are independent risk factors for venous thromboembolism. Ann Intern Med 1999; 130:643-50.
14 Heit JA, Sobell JL, Li H, Sommer SS. The incidence of venous thromboembolism among Factor V Leiden carriers: a community-based cohort study. J Thromb Haemost 2005; 3: 305-11.
15 De Moerloose P, Reber G, Perrier A, Perneger T, Bounameaux H. Prevalence of factor V Leiden and prothrombin G20210A mutations in unselected patients with venous thromboembolism. Br J Haematol 2000; 110:125-9.
16 Vandenbroucke JP, Koster T, Briet E, Reitsma PH, Bertina RM, Rosendaal FR. Increased risk of venous thrombosis in oral-contraceptive users who are carriers of factor V Leiden mutation. Lancet 1994; 344:1453-7.
17 Cushman M, Kuller LH, Prentice R, Rodabough RJ, Psaty BM, Stafford RS, et al. Estrogen plus progestin and risk of venous thrombosis. JAMA 2004; 292:1573-80.
18 Vandenbroucke JP, van der Meer FJ, Helmerhorst FM, Rosendaal FR. Factor V Leiden: should we screen oral contraceptive users and pregnant women? BMJ 1996; 313: 1127-30.
19 Wu O, Robertson L, Twaddle S, Lowe GD, Clark P, Greaves M, et al. Screening for thrombophilia in high-risk situations: a meta-analysis and cost-effectiveness analysis. Br J Haematol 2005; 131:80-90.
20 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; 88:3698-703.
21 Chinthammitr Y, Vos HL, Rosendaal FR, Doggen CJ. The association of prothrombin A19911G polymorphism with plasma prothrombin activity and venous thrombosis: results of the MEGA study, a large population-based case-control study. J Thromb Haemost 2006; 4:2587-92.
22 Emmerich J, Rosendaal FR, Cattaneo M, Margaglione M, De Stefano V, Cumming T, et al. 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-Analysis in Venous Thromboembolism. Thromb Haemost 2001; 86:809-16.
23 Seligsohn U, Lubetsky A. Genetic susceptibility to venous thrombosis. N Engl J Med 2001; 344:1222-31.
24 Koster T, Rosendaal FR, Briet E, van der Meer FJ, Colly LP, Trienekens PH, et al. Protein C deficiency in a controlled series of unselected outpatients: an infrequent but clear risk factor for venous thrombosis (Leiden Thrombophilia Study). Blood 1995; 85:2756-61.
25 Rossi E, Ciminello A, Za T, Betti S, Leone G, De Stefano V. In families with inherited thrombophilia the risk of venous thromboembolism is dependent on the clinical phenotype of the proband. Thromb Haemost 2011; 106:646-54.
26 Lijfering WM, Brouwer JL, Veeger NJ, Bank I, Coppens M, Middeldorp S, et al. 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; 113:5314-22.
27 Mahmoodi BK, Brouwer JL, Ten Kate MK, Lijfering WM, Veeger NJ, Mulder AB, et al. A prospective cohort study on the absolute risks of venous thromboembolism and predictive value of screening asymptomatic relatives of patients with hereditary deficiencies of protein S, protein C or antithrombin. J Thromb Haemost 2010; 8:1193-200.
28 Franco RF, Reitsma PH. Genetic risk factors of venous thrombosis. Hum Gen 2001; 109:369-84.
29 Pintao MC, Ribeiro DD, Bezemer ID, Garcia AA, de Visser MC, Doggen CJ, et al. Protein S levels and the risk of venous thrombosis: results from the MEGA case-control study. Blood 2013;122:3210-9.
30 Zoller B, Ohlsson H, Sundquist J, Sundquist K. Familial risk of venous thromboembolism in first-, second- and third-degree relatives: a nationwide family study in Sweden. Thromb Haemost 2013;109:458-63.
31 Bezemer ID, van der Meer FJ, Eikenboom JC, Rosendaal FR, Doggen CJ. The value of family history as a risk indicator for venous thrombosis. Arch Intern Med 2009; 169:610-5.
32 Prandoni P, Prins MH, Ghirarduzzi A, Pengo V, Sartori MT, Ugolotti MC, et al. Family history of venous thrombosis or sudden death as a risk factor for venous thromboembolism. Thromb Haemost 2012;107:1191-2.
33 Middeldorp S. Is thrombophilia testing useful? Hematology Am Soc Hematol Educ Program 2011;2011:150-5.
34 Miletich J, Sherman L, Broze G Jr. Absence of thrombosis in subjects with heterozygous protein C deficiency. N Engl J Med 1987; 317:991-6.
35 Bucciarelli P, Passamonti SM, Biguzzi E, Gianniello F, Franchi F, Mannucci PM. Low borderline plasma levels of antithrombin, protein C and protein S are risk factors for venous thromboembolism. J Thromb Haemost 2012; 10:1783-91.
36 Iorio A, Kearon C, Filippucci E, Marcucci M, Macura A, Pengo V, 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; 170:1710-6.
37 Heit JA, Mohr DN, Silverstein MD, Petterson TM, O’Fallon WM, Melton LJ, et al. Predictors of recurrence after deep vein thrombosis and pulmonary embolism: a population-based cohort study. Arch Intern Med 2000; 160:761-8.
38 Prandoni P, Lensing AW, Piccioli A, Bernardi E, Simioni P, Girolami B, et al. Recurrent venous thromboembolism and bleeding complications during anticoagulant treatment in patients with cancer and venous thrombosis. Blood 2002; 100:3484-8.
39 Eichinger S, Heinze G, Jandeck LM, Kyrle PA. Risk assessment of recurrence in patients with unprovoked deep vein thrombosis or pulmonary embolism: the Vienna prediction model. Circulation 2010; 121:1630-6.
40 Douketis J, Tosetto A, Marcucci M, Baglin T, Cushman M, Eichinger S, et al. Patient-level meta-analysis: effect of measurement timing, threshold, and patient age on ability of D-dimer testing to assess recurrence risk after unprovoked venous thromboembolism. Ann Intern Med 2010; 153:523-31.
41 Tosetto A, Iorio A, Marcucci M, Cushman M, Eichinger S, et al. Predicting disease recurrence in patients with previous unprovoked venous thromboembolism: a proposed prediction score (DASH). J Thromb Haemost 2012; 10:1019-25.
42 Verhovsek M, Douketis JD, Yi Q, Shrivastava S, Tait RC, Baglin T, et al. Systematic review: D-dimer to predict recurrent disease after stopping anticoagulant therapy for unprovoked venous thromboembolism. Ann Intern Med 2008; 149:481-90, W94.
43 Gauthier K, Kovacs MJ, Wells PS, Le Gal G, Rodger M, REVERSE investigators. Family history of venous thromboembolism (VTE) as a predictor for recurrent VTE in unprovoked VTE patients. J Thromb Haemost 2013; 11:200-3.
44 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; 362:523-6.
45 Christiansen SC, Cannegieter SC, Koster T, Vandenbroucke JP, Rosendaal FR. Thrombophilia, clinical factors, and recurrent venous thrombotic events. JAMA
2005; 293:2352-61.
46 Segal JB, Brotman DJ, Necochea AJ, Emadi A, Samal L, Wilson LM, et al. 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; 301:2472-85.
47 Lijfering WM, Middeldorp S, Veeger NJ, Hamulyak K, Prins MH, Buller HR, et al. Risk of recurrent venous thrombosis in homozygous carriers and double heterozygous carriers of factor V Leiden and prothrombin G20210A. Circulation 2010; 121:1706-12.
48 Brouwer JL, Lijfering WM, Ten Kate MK, Kluin-Nelemans HC, Veeger NJ, van der Meer J. High long-term absolute risk of recurrent venous thromboembolism in patients with hereditary deficiencies of protein S, protein C or antithrombin. Thromb Haemost 2009; 101:93-9.
49 De Stefano V, Simioni P, Rossi E, Tormene D, Za T, Pagnan A, et al. The risk of recurrent venous thromboembolism in patients with inherited deficiency of natural anticoagulants antithrombin, protein C and protein S. Haematologica 2006;91:695-8.
50 Di Minno MN, Dentali F, Lupoli R, Ageno W. Mild antithrombin deficiency and risk of recurrent venous thromboembolism: a prospective cohort study. Circulation
2014; 129:497-503.
51 Cohn DM, Vansenne F, de Borgie CA, Middeldorp S. Thrombophilia testing for prevention of recurrent venous thromboembolism. Cochrane Database Syst Rev 2012;12:CD007069.
52 Rabinovich A, Cohen JM, Prandoni P, Kahn SR. Association between thrombophilia and the post-thrombotic syndrome: a systematic review and meta-analysis. J Thromb Haemost 2014; 12:14-23.
53 Pabinger I, Vossen CY, Lang J, Conard J, Garcia-Dabrio MC, Miesbach W, et al. Mortality and inherited thrombophilia: results from the European Prospective Cohort on Thrombophilia. J Thromb Haemost 2012; 10:217-22.
54 Takach Lapner S, Kearon C. Diagnosis and management of pulmonary embolism. BMJ 2013;346:f757.
55 Einhaupl K, Stam J, Bousser MG, De Bruijn SF, Ferro JM, Martinelli I, et al. EFNS guideline on the treatment of cerebral venous and sinus thrombosis in adult patients. Eur J Neurol 2010;17:1229-35.
56 Tait C, Baglin T, Watson H, Laffan M, Makris M, Perry D, et al. Guidelines on the investigation and management of venous thrombosis at unusual sites. Br J Haematol 2012; 159:28-38.
57 Medicines and Healthcare products Regulatory Agency. Combined hormonal contraception 2014. www.mhra.gov.uk/home/groups/pl-p/documents/websiteresources/con391267.pdf.
58 Middeldorp S. Thrombosis in women: what are the knowledge gaps in 2013? J Thromb Haemost 2013; 11(Suppl 1):180-91.
59 Bates SM, Greer IA, Middeldorp S, e Veenstra DL, Prabulos AM, Vandvik PO, et al. VTE, thrombophilia, antithrombotic therapy, and pregnancy: Antithrombotic therapy and prevention of thrombosis, 9th ed. American College of Chest Physicians Evidence-Based Clinical Practice Guidelines. Chest 2012; 141(2 Suppl):e691S-736S.
60 Royal College of Obstetricians and Gynaecologists. Reducing the risk of thrombosis and embolism during pregnancy and the puerperium. RCOG, 2009.
61 Medicines and Healthcare products Regulatory Agency. Drug safety update 2014; 7. www. mhra.gov.uk/Safetyinformation/DrugSafetyUpdate/CON377645.
62 Sweetland S, Beral V, Balkwill A, Liu B, Benson VS, Canonico M, et al. Venous thromboembolism risk in relation to use of different types of postmenopausal hormone therapy in a large prospective study. J Thromb Haemost 2012; 10:2277-86.
63 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; 336:1227-31.
64 Roach RE, Lijfering WM, Helmerhorst FM, Cannegieter SC, Rosendaal FR, van Hylckama Vlieg A. The risk of venous thrombosis in women over 50 years old using oral contraception or postmenopausal hormone therapy. J Thromb Haemost 2013; 11:124-31.
65 Ye Z, Liu EH, Higgins JP, Keavney BD, Lowe GD, Collins R, et al. Seven haemostatic gene polymorphisms in coronary disease: meta-analysis of 66,155 cases and 91,307 controls. Lancet 2006; 367:651-8.
66 Lind C, Flinterman LE, Enga KF, Severinsen MT, Kristensen SR, Braekkan SK, et al. Impact of incident venous thromboembolism on risk of arterial thrombotic diseases. Circulation 2014; 129:855-63.
67 Morris JG, Singh S, Fisher M. Testing for inherited thrombophilias in arterial stroke: can it cause more harm than good? Stroke 2010; 41:2985-90.
68 Rodger MA, Betancourt MT, Clark P, Martinelli I, Perna A, Rey E, et al. The association of factor V Leiden and prothrombin gene mutation and placenta-mediated pregnancy complications: a systematic review and meta-analysis of prospective cohort studies. PLoS Med 2010;7:e1000292.
69 Clark P, Walker ID, Langhorne P, Crichton L, Thomson A, Greaves M, et al. SPIN (Scottish Pregnancy Intervention) study: a multicenter, randomized controlled trial of low-molecular-weight heparin and low-dose aspirin in women with recurrent miscarriage. Blood 2010; 115:4162-7.
70 Kaandorp SP, Goddijn M, van der Post JA, Hutton BA , Verhoveve HR, Hamulyak K, et al. Aspirin plus heparin or aspirin alone in women with recurrent miscarriage. N Engl J Med 2010; 362:1586-96.
71 Bouvier S, Cochery-Nouvellon E, Lavigne-Lissalde G, Mercier E, Fabbro-Peray P, Balducchi JP, et al. Comparative incidence of pregnancy outcomes in thrombophilia-positive women from the NOH-APS observational study. Blood 2014;123:414-21.
72 Rodger MA, Carrier M, Le Gal G, Martinelli I, Perna A, Rey E, et al. Meta-analysis of low-molecular-weight heparin to prevent recurrent placenta-mediated pregnancy complications.Blood 2014;123:822-8.