Seminars in Hematology
Volume 44, Issue 2 , Pages 126-129 , April 2007

The Essential Role of Genetic Counseling in Inherited Thrombophilia

  • Paul Lochhead

      Affiliations

    • North of Scotland Regional Genetics Service, Clinical Genetics Centre, Aberdeen, UK.
    • ,
  • Zosia Miedzybrodzka

      Affiliations

    • Department of Medicine and Therapeutics, University of Aberdeen, School of Medicine, Aberdeen, UK.
    • Corresponding Author InformationAddress correspondence to Zosia Miedzybrodzka, MBChB, PhD, MRCOG, Medical Genetics, Department of Medicine and Therapeutics, University of Aberdeen, School of Medicine, Polwarth Building, Aberdeen AB25 2ZD, UK.

References 

  1. Egeberg O. Thrombophilia caused by inheritable deficiency of blood antithrombin. Scand J Clin Lab Invest. 1965;17:92
  2. Heijboer H, Brandjes DP, Buller HR, Sturk A, ten Cate JW. Deficiencies of coagulation-inhibiting and fibrinolytic proteins in outpatients with deep-vein thrombosis. N Engl J Med. 1990;323:1512–1516
  3. 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;369:64–67
  4. Dahlback B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci U S A. 1993;90:1004–1008
  5. Rees DC, Cox M, Clegg JB. World distribution of factor V Leiden. Lancet. 1995;346:1133–1134
  6. 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;88:3698–3703
  7. Harper PS. Practical Genetic Counseling. London: Arnold; 2004;
  8. Human Genetics Commission. Inside Information: Balancing Interests in the Use of Personal Genetic Data. London: Crown; 2002;
  9. Joint Committee on Medical Genetics. Consent and Confidentiality in Genetic Practice: Guidance on Genetic Testing and Sharing Genetic Information. London: Royal College of Physicians; 2006;
  10. General Medical Council. Good Medical Practice. London: General Medical Council; 2006;
  11. General Medical Council. Seeking Patients’ Consent: The Ethical Considerations. London: General Medical Council; 1998;
  12. Haemostasis and Thrombosis Task Force, British Committee for Standards in Haematology. Investigation and management of heritable thrombophilia. Br J Haematol. 2001;114:512–528
  13. College of American Pathologists Consensus Conference XXXVI. Diagnostic issues in thrombophilia. Arch Pathol Lab Med. 2002;126:1277–1433
  14. Sarasin FP, Bounameaux H. Decision analysis model of prolonged oral anticoagulant treatment in factor V Leiden carriers with first episode of deep vein thrombosis. BMJ. 1998;316:95–99
  15. van den Belt AG, Hutten BA, Prins MH, Bossuy PM. Duration of oral anticoagulant treatment in patients with venous thromboembolism and a deficiency of antithrombin, protein C or protein S—A decision analysis. Thromb Haemost. 2000;84:758–763
  16. Marchetti M, Pistorio A, Barosi G. Extended anticoagulation for prevention of recurrent venous thromboembolism in carriers of factor V Leiden—Cost-effectiveness analysis. Thromb Haemost. 2000;84:752–757
  17. Rosendaal FR, Koster T, Vandenbroucke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factor V Leiden (activated protein C resistance). Blood. 1995;85:1504–1508
  18. De Stefano V, Martinelli I, Mannucci PM, Paciaroni K, Chiusolo P, Casorelli , et al. The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. N Engl J Med. 1999;341:801–806
  19. Koeleman BP, Reitsma PH, Bertina RM. Familial thrombophilia: A complex genetic disorder. Semin Hematol. 1997;34:256–264
  20. van Boven HH, Reitsma PH, Rosendaal FR, Bayston TA, Chowdhury V, Bauer KA, et al. Factor V Leiden (FV R506Q) in families with inherited antithrombin deficiency. Thromb Haemost. 1996;75:417–421
  21. van Boven HH, Vandenbroucke JP, Briet E, Rosendaal FR. Gene-gene and gene-environment interactions determine risk of thrombosis in families with inherited antithrombin deficiency. Blood. 1999;94:2590–2594
  22. Middeldorp S, Henkens CM, Koopman MM, van Pampus EC, Hamulyak K, van der Meer J, 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
  23. Bounameaux H. Factor V Leiden paradox: risk of deep-vein thrombosis but not of pulmonary embolism. Lancet. 2000;356:182–183
  24. Hille ET, Westendorp RG, Vandenbroucke JP, Rosendaal FR. Mortality and causes of death in families with the factor V Leiden mutation (resistance to activated protein C). Blood. 1997;89:1963–1967
  25. Clinical Genetics Society. The genetic testing of children: Report of a Working Party of the Clinical Genetics Society (UK). J Med Genet. 1994;31:785–797
  26. 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;344:1453–1457
  27. Vandenbroucke JP, van der Meer FJM, Helmerhorst FM, Rosendaal FR: Factor V Leiden: Should we screen oral contraceptive users and pregnant women? BMJ 313:1127-1130
  28. British National Formulary 52. London: BMJ Publishing Ltd and RPS Publishing; 2006;
  29. Wu O, Robertson L, Twaddle S, Lowe GDO, Clark P, Greaves M, 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) study). Health Technol Assess. 2006;10:1–110
  30. Lensen R, Rosendaal F, Vandenbroucke J, Bertina R. Factor V Leiden: The venous thrombotic risk in thrombophilic families. Br J Haematol. 2000;110:939–945

PII: S0037-1963(07)00004-2

doi: 10.1053/j.seminhematol.2007.01.003

Seminars in Hematology
Volume 44, Issue 2 , Pages 126-129 , April 2007

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