The real value of thrombophilia markers in identifying patients at high risk of venous thromboembolism

References

• Martinelli I, Bucciarelli P, Mannucci PM. Thrombotic risk factors: basic pathophysiology. Crit Care Med 2010;38(Suppl 2):S3-9
   Google Scholar
• Previtali E, Bucciarelli P, Passamonti SM, Martinelli I. Risk factors for venous and arterial thrombosis. Blood Transfus 2011;9(2):120-38
   PubMed Web of Science ®Google Scholar
• Martinelli I, De Stefano V, Mannucci PM. Inherited risk factors for venous thromboembolism. Nat Rev Cardiol 2014;11(3):140-56
   PubMed Web of Science ®Google Scholar
• Virchow R. Phlogose und Thrombose im Gefäßsystem; Gesammelte Abhandlungen zur Wissenschaftlichen Medizin. Staatsdruckerei; Frankfurt: 1856
   Google Scholar
• Lippi G, Franchini M, Targher G. Arterial thrombus formation in cardiovascular disease. Nat Rev Cardiol 2011;8(9):502-12
   PubMed Web of Science ®Google Scholar
• Spencer F, Becker RC. Diagnosis and management of inherited and acquired thrombophilias. J Thromb Thrombolysis 1999;7(2):91-104
   PubMedGoogle Scholar
• Mammen EF. Antithrombin: its physiological importance and role in DIC. Semin Thromb Hemost 1998;24(1):19-25
   PubMedGoogle Scholar
• Roemisch J, Gray E, Hoffmann JN, Wiedermann CJ. Antithrombin: a new look at the actions of a serine protease inhibitor. Blood Coagul Fibrinolysis 2002;13(8):657-70
   PubMed Web of Science ®Google Scholar
• Mammen EF. Clinical relevance of antithrombin deficiencies. Semin Hematol 1995;32(4 Suppl 2):2-6
   PubMedGoogle Scholar
• Buchanan GS, Rodgers GM, Branch DW. The inherited thrombophilias: genetics, epidemiology, and laboratory evaluation. Best Pract Res Clin Obst Gynecol 2003;17(3):397-411
   PubMedGoogle Scholar
• Franchini M, Veneri D, Salvagno GL, et al. Inherited thrombophilia. Crit Rev Clin Lab Sci 2006;43(3):249-90
   PubMed Web of Science ®Google Scholar
• Wells PS, Blajchman MA, Henderson P, et al. Prevalence of antithrombin deficiency in healthy blood donors: a cross-sectional study. Am J Hematol 1994;45(4):321-4
   PubMedGoogle Scholar
• Tait RC, Walker ID, Perry DJ, et al. Prevalence of antithrombin deficiency in the healthy population. Br J Haematol 1994;87(1):106-12
   PubMed Web of Science ®Google Scholar
• De Stefano V, Finazzi G, Mannucci PM. Inherited thrombophilia: pathogenesis, clinical syndromes and management. Blood 1996;87(9):3531-44
   PubMed Web of Science ®Google Scholar
• Lane DA, Kunz G, Olds RJ, Thein SL. Molecular genetics of antithrombin deficiency. Blood Rev 1996;10(2):59-74
   PubMed Web of Science ®Google Scholar
• Finazzi G, Caccia R, Barbui T. Different prevalence of thromboembolism in the subtypes of congenital antithrombin III deficiency: review of 404 cases. Thromb Haemost 1987;58(4):1094
   PubMed Web of Science ®Google Scholar
• Kisiel W. Human plasma protein C. Isolation, characterization and mechanism of activation by alpha-thrombin. J Clin Invest 1979;64(3):761-9
   PubMedGoogle Scholar
• Simioni P. The molecular genetics of familial venous thrombosis. Bailliere’s Clin Haematol 1999;12(3):479-503
   PubMedGoogle Scholar
• Griffin JH, Evatt B, Zimmerman TS, et al. Deficiency of protein C in congenital thrombotic disease. J Clin Invest 1981;68(5):1370-3
   PubMed Web of Science ®Google Scholar
• Reitsma PH, Bernardi F, Doig RG, et al. Protein C deficiency: a database of mutations, 1995 update. On behalf of the Subcommittee on Plasma Coagulation Inhibitors of the Scientific and Standardization Committee of the ISTH. Thromb Haemost 1995 73(5):876-89
   PubMedGoogle Scholar
• Franco RF, Reitsma PH. Genetic risk factors of venous thrombosis. Hum Gen 2001;109(4):369-84
   PubMedGoogle Scholar
• Borgel D, Gandrille S, Aiach M. Protein S deficiency. Thromb Haemost 1997;78(1):351-6
   PubMedGoogle Scholar
• Comp PC, Esmon CT. Recurrent venous thromboembolism in patients with a partial deficiency of protein S. N Engl J Med 1984;311(24):1525-8
   PubMed Web of Science ®Google Scholar
• García de Frutos P, Fuentes-Prior P, Hurtado B, Sala N. Molecular basis of protein S deficiency. Thromb Haemost 2007;98(3):543-56
   PubMedGoogle Scholar
• Dahlback B, Carlsson M, Svesson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C. Proc Natl Acad Sci USA 1993;90(3):1004-8
   PubMed Web of Science ®Google Scholar
• Koster T, Rosendaal FR, Bertina RM. Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet 1993;342(8886-8887):1503-6
   PubMedGoogle Scholar
• 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):64-7
   PubMed Web of Science ®Google Scholar
• Voorberg J, Roelse J, Koopman R, et al. Association of idiopathic venous thromboembolism with single point-mutation at Arg506 of factor V. Lancet 1994;343(8912):1535-6
   PubMedGoogle Scholar
• Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet 1995;346(8983):1133-4
   PubMed Web of Science ®Google Scholar
• Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden. Blood 1995;85(6):1504-8
   PubMed Web of Science ®Google Scholar
• Cushman M, Tsai AW, White RH, et al. Deep vein thrombosis and pulmonary embolism in two cohorts: the longitudinal investigation of thromboembolism etiology. Am J Med 2004;117(1):19-25
   PubMed Web of Science ®Google Scholar
• 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):3698-703
   PubMed Web of Science ®Google Scholar
• Rosendaal FR, Doggen CJ, Zivelin A, et al. Geographic distribution of the 20210 G to A prothrombin variant. Thromb Haemost 1998;79(4):706-8
   PubMed Web of Science ®Google Scholar
• De Groot PG, Lutters B, Derksen RH, et al. Lupus anticoagulants and the risk of a first episode deep vein thrombosis. J Thromb Haemost 2005;3(9):1993-7
   PubMed Web of Science ®Google Scholar
• Naess IA, Christiansen SC, Cannegieter SC, et al. A prospective study of anticardiolipin antibodies as a risk factor for venous thrombosis in a general population (the HUNT study). J Thromb Haemost 2006;4(1):44-9
   PubMedGoogle Scholar
• 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
   PubMed Web of Science ®Google Scholar
• Galli M, Barbui T. Antiphospholipid antibodies and thrombosis: strength of association. Hematol J 2003;4(3):180-6
   PubMedGoogle Scholar
• Wahl DG, Guillemin F, de Maistre E, et al. Meta-analysis of the risk of venous thrombosis in individuals with antiphospholipid antibodies without underlying autoimmune disease or previous thrombosis. Lupus 1998;7(1):15-22
   PubMedGoogle Scholar
• Harris EN, Gharavi AE, Hughes GRV. Antiphospholipid antibodies. Clin Rheum Dis 1985;11(3):591-609
   PubMedGoogle Scholar
• Girón-González JA, García del Río E, Rodríguez C, et al. Antiphospholipid syndrome and asymptomatic carriers of antiphospholipid antibody: prospective analysis of 404 individuals. J Rheumatol 2004;31(8):1560-7
   PubMed Web of Science ®Google Scholar
• Cattaneo M. Hyperhomocysteinemia, atherosclerosis and thrombosis. Thromb Haemost 1999;81(2):165-76
   PubMedGoogle Scholar
• Kyrle PA, Minar E, Hirschl M, et al. High plasma levels of factor VIII end the risk of recurrent venous thrombembolism. N Engl J Med 2000;343(7):457-62
   PubMed Web of Science ®Google Scholar
• Koster T, Blann AD, Briet E, et al. Role of clotting factor VIII in effect of von Willebrand factor on occurrence of deep-vein thrombosis. Lancet 1995;345(8943):152-5
   PubMed Web of Science ®Google Scholar
• Kamphuisen PW, Houwing-Duistermaat JJ, van Houwelingen HC, et al. Familial clustering of factor VIII and von Willebrand factor levels. Thromb Haemost 1998;79(2):323-7
   PubMedGoogle Scholar
• Vossen CY, Hasstedt SJ, Rosendaal FR, et al. Heritability of plasma concentrations of clotting factors and measures of a prethrombotic state in a protein C-deficient family. J Thromb Haemost 2004;2(2):242-7
   PubMedGoogle Scholar
• Bank I, Libourel EJ, Middeldorp S, et al. Elevated levels of FVIII:C within families are associated with an increased risk for venous and arterial thrombosis. J Thromb Haemost 2005;3(1):79-84
   PubMedGoogle Scholar
• Lijfering W M, Brouwer JL, Veeger NJ, 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(21):5314-22
   PubMedGoogle Scholar
• 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):1026-33
   PubMedGoogle Scholar
• Simioni P, Sanson BJ, Prandoni P, et al. Incidence of venous thromboembolism in families with inherited thrombophilia. Thromb Haemost 1999;81(2):198-202
   PubMedGoogle Scholar
• 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(1):807-15
   PubMedGoogle Scholar
• Sanson BJ, Simioni P, Tormene D, et al. 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(11):3702-6
   PubMedGoogle Scholar
• Bucciarelli P, Passamonti SM, Biguzzi E, et al. Low borderline plasma levels of antithrombin, protein C and protein S are risk factors for venous thromboembolism. J Thromb Haemost 2012;10(9):1783-91
   PubMed Web of Science ®Google Scholar
• Kenet G, Nowak-Göttl U. Venous thromboembolism in neonates and children. Best Pract Res Clin Haematol 2012;25(3):333-44
   PubMedGoogle Scholar
• Limperger V, Franke A, Kenet G, et al. Clinical and laboratory characteristics of paediatric and adolescent index cases with venous thromboembolism and antithrombin deficiency. An observational multicenter cohort study. Thromb Haemost 2014. [Epub ahead of print]
   Google Scholar
• Young G, Albisetti M, Bonduel M, et al. Impact of inherited thrombophilia on venous thromboembolism in children: a systematic review and meta-analysis of observational studies. Circulation 2008;118(13):1373-82
   PubMed Web of Science ®Google Scholar
• Kenet G, Lütkhoff LK, Albisetti M, et al. Impact of thrombophilia on risk of arterial ischemic stroke or cerebral sinovenous thrombosis in neonates and children: a systematic review and meta-analysis of observational studies. Circulation 2010;121(16):1838-47
   PubMed Web of Science ®Google Scholar
• Coppola A, Tufano A, Cerbone AM, Di Minno G. Inherited thrombophilia: implications for prevention and treatment of venous thromboembolism. Semin Thromb Hemost 2009;35(7):683-94
   PubMed Web of Science ®Google Scholar
• Wu O, Robertson L, Twaddle S, et al. Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) Study. Screening for thrombophilia in high-risk situations: a meta-analysis and cost-effectiveness analysis. Br J Haematol 2005;131(1):80-90
   PubMedGoogle Scholar
• Whitlatch NL, Ortel TL. Thrombophilias: when should we test and how does it help? Semin Respir Crit Care Med 2008;29(1):25-39
   PubMed Web of Science ®Google Scholar
• Kyrle PA, Rosendaal FR, Eichinger S. Risk assessment for recurrent venous thrombosis. Lancet 2010;376(9757):2032-9
   PubMed Web of Science ®Google Scholar
• 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):523-6
   PubMedGoogle Scholar
• Christiansen SC, Cannegieter SC, Koster T, et al. Thrombophilia, clinical factors, and recurrent venous thrombotic events. J Am Med Assoc 2005;293(19):2352-61
   Google Scholar
• Lijfering WM, Middeldorp S, Veeger NJ, et al. Risk of recurrent venous thrombosis in homozygous carriers, and double heterozygous carriers of factor V Leiden and prothrombin G20210A. Circulation 2010;121(15):1706-12
   PubMedGoogle Scholar
• 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):729-36
   PubMedGoogle Scholar
• Marchiori A, Mosena L, Prins MH, et al. 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
   PubMedGoogle Scholar
• Segal JB, Brotman DJ, Necochea AJ, 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. J Am Med Assoc 2009;301(23):2472-85
   Google Scholar
• 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):1992-7
   PubMedGoogle Scholar
• Brouwer JL, Lijfering LM, Ten Kate MI, et al. 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(1):93-9
   PubMedGoogle Scholar
• Rossi E, Ciminello A, Za T, et al. In families with inherited thrombophilia the risk of venous thromboembolism is dependent on the clinical phenotype of the proband. Thromb Haemost 2011;106(4):646-54
   PubMedGoogle Scholar
• Holzhauer S, Goldenberg NA, Junker R, et al. Inherited thrombophilia in children with venous thromboembolism and the familial risk of thromboembolism: an observational study. Blood 2012;120(7):1510-15
   PubMedGoogle Scholar
• Bezemer ID, van der Meer FJ, Eikenboom JC, et al. The value of family history as a risk indicator for venous thrombosis. Arch Intern Med 2009;169(6):610-15
   PubMedGoogle Scholar
• Bucciarelli P, De Stefano V, Passamonti SM, et al. Influence of proband’s characteristics on the risk of venous thromboembolism in relatives with factor V Leiden or prothrombin G20210A polymorphisms. Blood 2013;122(15):2555-61
   PubMedGoogle Scholar
• Wu O, Robertson L, Twaddle S, et al. Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) Study. Screening for thrombophilia in high-risk situations: a meta-analysis and cost-effectiveness analysis. Br J Haematol 2005;131(1):80-90
   PubMedGoogle Scholar
• Vandenbroucke JP, van der Meer FJM, Helmerhorst FM, et al. Factor V. Leiden: should we screen oral contraceptive users and pregnant women? Br Med J 1996;313(7065):1127-30
   PubMedGoogle Scholar
• Clark P, Twaddle S, Walker ID, et al. Cost-effectiveness of screening for the factor V Leiden mutation in pregnant women. Lancet 2002;359(9321):1919-20
   PubMedGoogle Scholar
• Battaglioli T, Martinelli I. Hormone therapy and thromboembolic disease. Curr Opin Hematol 2007;14(5):488-93
   PubMed Web of Science ®Google Scholar
• 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
   PubMedGoogle Scholar
• Mahmoodi BK, Brouwer JL, Ten Kate MK, 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(6):1193-200
   PubMed Web of Science ®Google Scholar
• Middeldorp S. Evidence-based approach to thrombophilic testing. J Thromb Thrombolysis 2011;31(3):275-81
   PubMed Web of Science ®Google Scholar
• Lussana F, Dentali F, Abbate R, et al. Italian Society for Haemostasis and Thrombosis. Screening for thrombophilia and antithrombotic prophylaxis in pregnancy: guidelines of the Italian Society for Haemostasis and Thrombosis (SISET). Thromb Res 2009;124(5):e19-25
   PubMedGoogle Scholar
• Lockwood C, Wendel G; for the Committee on Practice Bulletins–Obstetrics. Practice bulletin no. 124: inherited thrombophilias in pregnancy. Obstet Gynecol 2011;118(3):730-40
   PubMedGoogle Scholar