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Volumn 106, Issue 4, 2011, Pages 646-654

In families with inherited thrombophilia the risk of venous thromboembolism is dependent on the clinical phenotype of the proband

Author keywords

Deep venous thrombosis; Familial screening; Inherited thrombophilia; Risk factors

Indexed keywords

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

EID: 80053213805     PISSN: 03406245     EISSN: None     Source Type: Journal    
DOI: 10.1160/TH11-02-0080     Document Type: Article
Times cited : (33)

References (47)
  • 1
    • 0036799252 scopus 로고    scopus 로고
    • Screening for inherited thrombophilia: Indications and therapeutic implications
    • De Stefano V, Rossi E, Paciaroni K, et al. Screening for inherited thrombophilia: indications and therapeutic implications. Haematologica 2002; 87: 1095-108.
    • (2002) Haematologica , vol.87 , pp. 1095-1108
    • de Stefano, V.1    Rossi, E.2    Paciaroni, K.3
  • 2
    • 13244292326 scopus 로고    scopus 로고
    • Inherited thrombophilia and life-time risk of venous thromboembolism: Is the burden reducible?
    • De Stefano V. Inherited thrombophilia and life-time risk of venous thromboembolism: is the burden reducible? J Thromb Haemost 2004; 2: 1522-1525.
    • (2004) J Thromb Haemost , vol.2 , pp. 1522-1525
    • de Stefano, V.1
  • 3
    • 19944433631 scopus 로고    scopus 로고
    • Familial thrombophilia and life-time risk of venous thrombosis
    • Vossen CY, Conard J, Fontcuberta J, et al. Familial thrombophilia and life-time risk of venous thrombosis. J Thromb Haemost 2004; 2: 1526-1532.
    • (2004) J Thromb Haemost , vol.2 , pp. 1526-1532
    • Vossen, C.Y.1    Conard, J.2    Fontcuberta, J.3
  • 4
    • 23944444384 scopus 로고    scopus 로고
    • Risk of a first venous thrombotic event in carriers of a familial thrombophilic defect. The European Prospective Cohort on Thrombophilia (EPCOT)
    • Vossen CY, Conard J, Fontcuberta J, et al. Risk of a first venous thrombotic event in carriers of a familial thrombophilic defect. The European Prospective Cohort on Thrombophilia (EPCOT). J Thromb Haemost 2005; 3: 459-464.
    • (2005) J Thromb Haemost , vol.3 , pp. 459-464
    • Vossen, C.Y.1    Conard, J.2    Fontcuberta, J.3
  • 5
    • 54049096018 scopus 로고    scopus 로고
    • Does thrombophilia testing help in the clinical management of patients?
    • Middeldorp S, van Hylckama Vlieg A. Does thrombophilia testing help in the clinical management of patients? Br J Haematol 2008; 143: 321-335.
    • (2008) Br J Haematol , vol.143 , pp. 321-335
    • Middeldorp, S.1    van Hylckama Vlieg, A.2
  • 6
    • 70449339552 scopus 로고    scopus 로고
    • Thrombophilia: Grading the risk
    • Makris M. Thrombophilia: grading the risk. Blood 2009; 113: 5038-5039.
    • (2009) Blood , vol.113 , pp. 5038-5039
    • Makris, M.1
  • 7
    • 67149089651 scopus 로고    scopus 로고
    • 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
    • Lijfering WM, 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: 5314-5322.
    • (2009) Blood , vol.113 , pp. 5314-5322
    • Lijfering, W.M.1    Brouwer, J.L.2    Veeger, N.J.3
  • 8
    • 45949100970 scopus 로고    scopus 로고
    • Antithrombotic therapy for venous thromboembolic disease: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines (8th Edition)
    • Kearon C, Kahn SR, Agnelli G, et al. Antithrombotic therapy for venous thromboembolic disease: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines (8th Edition). Chest 2008; 133 (6 Suppl): 454S-545S.
    • (2008) Chest , vol.133 , Issue.6 SUPPL.
    • Kearon, C.1    Kahn, S.R.2    Agnelli, G.3
  • 9
    • 77949821581 scopus 로고    scopus 로고
    • Clinical guidelines for testing for heritable thrombophilia
    • Baglin T, Gray E, Greaves M, et al. Clinical guidelines for testing for heritable thrombophilia. Br J Haematol 2010; 149: 209-220.
    • (2010) Br J Haematol , vol.149 , pp. 209-220
    • Baglin, T.1    Gray, E.2    Greaves, M.3
  • 10
    • 34047249951 scopus 로고    scopus 로고
    • Inherited thrombophilia in arterial disease: A selective review
    • de Moerloose P, Boehlen F. Inherited thrombophilia in arterial disease: a selective review. Semin Hematol 2007; 44: 106-113.
    • (2007) Semin Hematol , vol.44 , pp. 106-113
    • de Moerloose, P.1    Boehlen, F.2
  • 11
    • 70349866121 scopus 로고    scopus 로고
    • Screening for thrombophilia and antithrombotic prophylaxis in pregnancy: Guidelines of the Italian Society for Haemostasis and Thrombosis (SISET)
    • Lussana F, Dentali F, Abbate R, et al. Screening for thrombophilia and antithrombotic prophylaxis in pregnancy: Guidelines of the Italian Society for Haemostasis and Thrombosis (SISET). Thromb Res 2009; 124: e19-25.
    • (2009) Thromb Res , vol.124
    • Lussana, F.1    Dentali, F.2    Abbate, R.3
  • 13
    • 84867023897 scopus 로고    scopus 로고
    • Royal College of Pathologists of Australasia, Available at
    • Suthers, G. Report of the Australian Genetic Testing Survey 2006. Royal College of Pathologists of Australasia, 2009. Available at http://www.rcpa.edu.au/static/File/Assetlibrary/publicdocuments/Mediaeleases/AustralianGeneSurvey2006.pdf.
    • (2009) Report of the Australian Genetic Testing Survey 2006
    • Suthers, G.1
  • 14
    • 34548060279 scopus 로고    scopus 로고
    • Current practise of testing for inherited thrombophilia
    • Coppens M, van Mourik JA, Eckmann CM, et al. Current practise of testing for inherited thrombophilia. J Thromb Haemost 2007; 5: 1979-1981.
    • (2007) J Thromb Haemost , vol.5 , pp. 1979-1981
    • Coppens, M.1    van Mourik, J.A.2    Eckmann, C.M.3
  • 15
    • 70350221025 scopus 로고    scopus 로고
    • Use of Factor V Leiden genetic testing in practice and impact on management
    • Laberge AM, Psaty BM, Hindorff LA, et al. Use of Factor V Leiden genetic testing in practice and impact on management. Genet Med 2009; 11: 750-756.
    • (2009) Genet Med , vol.11 , pp. 750-756
    • Laberge, A.M.1    Psaty, B.M.2    Hindorff, L.A.3
  • 16
    • 53249107191 scopus 로고    scopus 로고
    • The emotional impact of genetic testing and aspects of counseling prior to prescription of oral contraceptives
    • Gartner V, Weber M, Eichinger S. The emotional impact of genetic testing and aspects of counseling prior to prescription of oral contraceptives. Contraception 2008; 78: 392-398.
    • (2008) Contraception , vol.78 , pp. 392-398
    • Gartner, V.1    Weber, M.2    Eichinger, S.3
  • 17
    • 0035412353 scopus 로고    scopus 로고
    • Genetic hypercoagulability: Screening should be an informed choice
    • Green D. Genetic hypercoagulability: screening should be an informed choice. Blood 2001; 98: 20.
    • (2001) Blood , vol.98 , pp. 20
    • Green, D.1
  • 18
    • 0035412379 scopus 로고    scopus 로고
    • Genetic hypercoagulability: Prevention suggests testing family members
    • Mannucci PM. Genetic hypercoagulability: prevention suggests testing family members. Blood 2001; 98: 21-22.
    • (2001) Blood , vol.98 , pp. 21-22
    • Mannucci, P.M.1
  • 19
    • 0642311194 scopus 로고    scopus 로고
    • Pros and cons of thrombophilia testing: Pros
    • Martinelli I. Pros and cons of thrombophilia testing: pros. J Thromb Haemost 2003; 1: 410-411.
    • (2003) J Thromb Haemost , vol.1 , pp. 410-411
    • Martinelli, I.1
  • 20
    • 0642372646 scopus 로고    scopus 로고
    • Pros and cons of thrombophilia testing: Cons
    • Machin SJ. Pros and cons of thrombophilia testing: cons. J Thromb Haemost 2003; 1: 412-413.
    • (2003) J Thromb Haemost , vol.1 , pp. 412-413
    • Machin, S.J.1
  • 21
    • 0027971225 scopus 로고
    • Clinical manifestations and management of inherited thrombophilia: Retrospective analysis and follow-up after diagnosis of 238 patients with congenital deficiency of antithrombin III, protein C, protein S
    • De Stefano V, Leone G, Mastrangelo S, et al. Clinical manifestations and management of inherited thrombophilia: retrospective analysis and follow-up after diagnosis of 238 patients with congenital deficiency of antithrombin III, protein C, protein S. Thromb Haemost 1994; 72: 352-358.
    • (1994) Thromb Haemost , vol.72 , pp. 352-358
    • de Stefano, V.1    Leone, G.2    Mastrangelo, S.3
  • 22
    • 0033485887 scopus 로고    scopus 로고
    • The incidence of venous thromboembolism in asymptomatic carriers of a deficiency of antithrombin, protein C, or protein S: A prospective cohort study
    • 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: 3702-3706.
    • (1999) Blood , vol.94 , pp. 3702-3706
    • Sanson, B.J.1    Simioni, P.2    Tormene, D.3
  • 23
    • 0037085791 scopus 로고    scopus 로고
    • Incidence of venous thromboembolism in asymptomatic family members who are carriers of factor V Leiden: A prospective cohort study
    • Simioni P, Tormene D, Prandoni P, et al. Incidence of venous thromboembolism in asymptomatic family members who are carriers of factor V Leiden: a prospective cohort study. Blood 2002; 99: 1938-1942.
    • (2002) Blood , vol.99 , pp. 1938-1942
    • Simioni, P.1    Tormene, D.2    Prandoni, P.3
  • 24
    • 77954510728 scopus 로고    scopus 로고
    • 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
    • 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: 1193-1200.
    • (2010) J Thromb Haemost , vol.8 , pp. 1193-1200
    • Mahmoodi, B.K.1    Brouwer, J.L.2    ten Kate, M.K.3
  • 25
    • 1842788215 scopus 로고    scopus 로고
    • Social aspects of genetic testing for factor V Leiden mutation in healthy individuals and their importance for daily practice
    • Bank I, Scavenius MP, Büller HR, et al. Social aspects of genetic testing for factor V Leiden mutation in healthy individuals and their importance for daily practice. Thromb Res 2004; 113: 7-12.
    • (2004) Thromb Res , vol.113 , pp. 7-12
    • Bank, I.1    Scavenius, M.P.2    Büller, H.R.3
  • 26
    • 2142646371 scopus 로고    scopus 로고
    • Prevalence and risk factors of non-fatal venous thromboembolism in the active population of the VITA Project
    • Tosetto A, Frezzato M, Rodeghiero F. Prevalence and risk factors of non-fatal venous thromboembolism in the active population of the VITA Project. J Thromb Haemost 2003; 1: 1724-1729.
    • (2003) J Thromb Haemost , vol.1 , pp. 1724-1729
    • Tosetto, A.1    Frezzato, M.2    Rodeghiero, F.3
  • 27
    • 49549085017 scopus 로고    scopus 로고
    • Family history as a risk factor for venous thromboembolism
    • Noboa S, Le Gal G, Lacut K, et al. Family history as a risk factor for venous thromboembolism. Thromb Res 2008; 122: 624-629.
    • (2008) Thromb Res , vol.122 , pp. 624-629
    • Noboa, S.1    le Gal, G.2    Lacut, K.3
  • 28
    • 63849314208 scopus 로고    scopus 로고
    • The value of family history as a risk indicator for venous thrombosis
    • 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: 610-615.
    • (2009) Arch Intern Med , vol.169 , pp. 610-615
    • Bezemer, I.D.1    van der Meer, F.J.2    Eikenboom, J.C.3
  • 29
    • 78650951814 scopus 로고    scopus 로고
    • Parental history and venous thromboembolism: A nationwide study of age-specific and sex-specific familial risks in Sweden
    • Zöller B, Li X, Sundquist J, et al. Parental history and venous thromboembolism: a nationwide study of age-specific and sex-specific familial risks in Sweden. J Thromb Haemost 2011; 9: 64-70.
    • (2011) J Thromb Haemost , vol.9 , pp. 64-70
    • Zöller, B.1    Li, X.2    Sundquist, J.3
  • 30
    • 79251558446 scopus 로고    scopus 로고
    • Familial risk of venous thromboembolism: A nationwide cohort study
    • Sørensen HT, Riis AH, Diaz LJ, et al. Familial risk of venous thromboembolism: a nationwide cohort study. J Thromb Haemost 2011; 9: 320-324.
    • (2011) J Thromb Haemost , vol.9 , pp. 320-324
    • Sørensen, H.T.1    Riis, A.H.2    Diaz, L.J.3
  • 31
    • 0034126578 scopus 로고    scopus 로고
    • Venous thrombotic risk in family members of unselected individuals with factor V Leiden
    • Lensen RP, Bertina RM, de Ronde H, et al. Venous thrombotic risk in family members of unselected individuals with factor V Leiden. Thromb Haemost 2000; 83: 817-821.
    • (2000) Thromb Haemost , vol.83 , pp. 817-821
    • Lensen, R.P.1    Bertina, R.M.2    de Ronde, H.3
  • 32
    • 79955745537 scopus 로고    scopus 로고
    • Diagnosis and management of preeclampsia and eclampsia
    • American College of Obstetricians and Gynecologists. ACOG Committee on Practice Bulletins - Obstetrics. ACOG Practice Bulletin No. 33, January 2002
    • American College of Obstetricians and Gynecologists. ACOG Committee on Practice Bulletins - Obstetrics. ACOG Practice Bulletin No. 33, January 2002. Diagnosis and management of preeclampsia and eclampsia. Obstet Gynecol 2002; 99: 159-167.
    • (2002) Obstet Gynecol , vol.99 , pp. 159-167
  • 33
    • 0029804440 scopus 로고    scopus 로고
    • Clinical utility of strict diagnostic criteria for the HELLP (hemolysis, elevated liver enzymes, and low platelets) syndrome
    • Audibert F, Friedman SA, Frangieh AY, et al. Clinical utility of strict diagnostic criteria for the HELLP (hemolysis, elevated liver enzymes, and low platelets) syndrome. Am J Obstet Gynecol 1996; 175: 460-464.
    • (1996) Am J Obstet Gynecol , vol.175 , pp. 460-464
    • Audibert, F.1    Friedman, S.A.2    Frangieh, A.Y.3
  • 34
    • 33845382806 scopus 로고
    • Nonparametric estimation from incomplete observations
    • Kaplan EL, Meier P. Nonparametric estimation from incomplete observations. J Am Stat Assoc 1958; 53: 457-481.
    • (1958) J Am Stat Assoc , vol.53 , pp. 457-481
    • Kaplan, E.L.1    Meier, P.2
  • 35
    • 0028272987 scopus 로고
    • The risk of thromboembolism in asymptomatic patients with protein C and protein S deficiency: A prospective cohort study
    • Pabinger I, Kyrle PA, Heistinger M, et al. The risk of thromboembolism in asymptomatic patients with protein C and protein S deficiency: a prospective cohort study. Thromb Haemost 1994; 71: 441-445.
    • (1994) Thromb Haemost , vol.71 , pp. 441-445
    • Pabinger, I.1    Kyrle, P.A.2    Heistinger, M.3
  • 36
    • 0035806996 scopus 로고    scopus 로고
    • A prospective study of asymptomatic carriers of the factor V Leiden mutation to determine the incidence of venous thromboembolism
    • Middeldorp S, Meinardi JR, Koopman MM, et al. A prospective study of asymptomatic carriers of the factor V Leiden mutation to determine the incidence of venous thromboembolism. Ann Intern Med 2001; 135: 322-327.
    • (2001) Ann Intern Med , vol.135 , pp. 322-327
    • Middeldorp, S.1    Meinardi, J.R.2    Koopman, M.M.3
  • 37
    • 33750626078 scopus 로고    scopus 로고
    • A prospective cohort study on the absolute incidence of venous thromboembolism and arterial cardiovascular disease in asymptomatic carriers of the prothrombin 20210A mutation
    • Coppens M, van de Poel MH, Bank I, et al. A prospective cohort study on the absolute incidence of venous thromboembolism and arterial cardiovascular disease in asymptomatic carriers of the prothrombin 20210A mutation. Blood 2006; 108: 2604-2607.
    • (2006) Blood , vol.108 , pp. 2604-2607
    • Coppens, M.1    van de Poel, M.H.2    Bank, I.3
  • 38
    • 0032190251 scopus 로고    scopus 로고
    • Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: A study of 150 families
    • Martinelli I, Mannucci PM, De Stefano V, et al. Different risks of thrombosis in four coagulation defects associated with inherited thrombophilia: a study of 150 families. Blood 1998; 92: 2353-2358.
    • (1998) Blood , vol.92 , pp. 2353-2358
    • Martinelli, I.1    Mannucci, P.M.2    de Stefano, V.3
  • 39
    • 0031985328 scopus 로고    scopus 로고
    • The incidence of venous thromboembolism in family members of patients with factor V Leiden mutation and venous thrombosis
    • Middeldorp S, Henkens CM, Koopman MM, et al. The incidence of venous thromboembolism in family members of patients with factor V Leiden mutation and venous thrombosis. Ann Intern Med 1998; 128: 15-20.
    • (1998) Ann Intern Med , vol.128 , pp. 15-20
    • Middeldorp, S.1    Henkens, C.M.2    Koopman, M.M.3
  • 40
    • 0032892955 scopus 로고    scopus 로고
    • 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
    • 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: 1026-1033.
    • (1999) Arterioscler Thromb Vasc Biol , vol.19 , pp. 1026-1033
    • Bucciarelli, P.1    Rosendaal, F.R.2    Tripodi, A.3
  • 41
    • 0000662461 scopus 로고    scopus 로고
    • Incidence of venous thromboembolism in families with inherited thrombophilia
    • Simioni P, Sanson BJ, Prandoni P, et al. Incidence of venous thromboembolism in families with inherited thrombophilia. Thromb Haemost 1999; 81: 198-202.
    • (1999) Thromb Haemost , vol.81 , pp. 198-202
    • Simioni, P.1    Sanson, B.J.2    Prandoni, P.3
  • 42
    • 0034487766 scopus 로고    scopus 로고
    • The risk of venous thromboembolism in family members with mutations in the genes of factor V or prothrombin or both
    • Martinelli I, Bucciarelli P, Margaglione M, et al. The risk of venous thromboembolism in family members with mutations in the genes of factor V or prothrombin or both. Br J Haematol 2000; 111: 1223-1229.
    • (2000) Br J Haematol , vol.111 , pp. 1223-1229
    • Martinelli, I.1    Bucciarelli, P.2    Margaglione, M.3
  • 43
    • 0035162185 scopus 로고    scopus 로고
    • Contribution of prothrombin 20210A allele and factor V Leiden mutation to thrombosis risk in thrombophilic families with other hemostatic deficiencies
    • Tirado I, Mateo J, Soria JM, et al. Contribution of prothrombin 20210A allele and factor V Leiden mutation to thrombosis risk in thrombophilic families with other hemostatic deficiencies. Haematologica 2001; 86: 1200-1208.
    • (2001) Haematologica , vol.86 , pp. 1200-1208
    • Tirado, I.1    Mateo, J.2    Soria, J.M.3
  • 44
    • 13244253694 scopus 로고    scopus 로고
    • The G20210A prothrombin gene mutation: Is there room for screening families?
    • Tormene D, Simioni P, Pagnan A, et al. The G20210A prothrombin gene mutation: is there room for screening families? J Thromb Haemost 2004; 2: 1487-1488.
    • (2004) J Thromb Haemost , vol.2 , pp. 1487-1488
    • Tormene, D.1    Simioni, P.2    Pagnan, A.3
  • 45
    • 4644268361 scopus 로고    scopus 로고
    • Prothrombin 20210A mutation: A mild risk factor for venous thromboembolism but not for arterial thrombotic disease and pregnancy-related complications in a family study
    • Bank I, Libourel EJ, Middeldorp S, et al. Prothrombin 20210A mutation: a mild risk factor for venous thromboembolism but not for arterial thrombotic disease and pregnancy-related complications in a family study. Arch Intern Med 2004; 164: 1932-1937.
    • (2004) Arch Intern Med , vol.164 , pp. 1932-1937
    • Bank, I.1    Libourel, E.J.2    Middeldorp, S.3
  • 46
    • 33846432107 scopus 로고    scopus 로고
    • The pathogenesis of venous thromboembolism: Evidence for multiple interrelated causes
    • Brouwer JL, Veeger NJ, Kluin-Nelemans HC, et al. The pathogenesis of venous thromboembolism: evidence for multiple interrelated causes. Ann Intern Med 2006; 145: 807-815.
    • (2006) Ann Intern Med , vol.145 , pp. 807-815
    • Brouwer, J.L.1    Veeger, N.J.2    Kluin-Nelemans, H.C.3
  • 47
    • 33845369571 scopus 로고    scopus 로고
    • Incidence of venous thromboembolism in first-degree relatives of patients with venous thromboembolism who have factor V Leiden
    • Couturaud F, Kearon C, Leroyer C, et al. Incidence of venous thromboembolism in first-degree relatives of patients with venous thromboembolism who have factor V Leiden. Thromb Haemost 2006; 96: 744-749.
    • (2006) Thromb Haemost , vol.96 , pp. 744-749
    • Couturaud, F.1    Kearon, C.2    Leroyer, C.3


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