Indicati on for examinati on of risk factors for veno us thrombosis
Authors:
M. Matýšková; M. Šlechtová; J. Zavřelová; M. Penka
Authors‘ workplace:
Oddělení klinické hematologie FN Brno, pracoviště Bohunice, přednosta prof. MUDr. Miroslav Penka, CSc.
Published in:
Vnitř Lék 2009; 55(Suppl 1)(Supplementum 1): 41-47
Overview
Pathogenesis of thrombosis includes many interacting factors, both inherited and environmental. We are able to detect a lot of thrombotic risk factors. Surveying these sho uld be indicated only in cases where knowledge of the defect can influence pati ent’s tre atment. Wide range screening of defects in which there is no definite proven relati on to clinical picture is not recommended.
Key words:
thrombophili a – veno us thrombosis – laboratory examinati on
Sources
1. Naess IA, Christi ansen SC, Romundstad P. Incidence and mortality of veno us thrombosis: a populati on‑based study. J Thromb Haemost 2007; 5: 692– 699.
2. Rosendaal FR. Risk factors for veno us thrombotic dise ase. Thromb Haemost 1999; 82: 610– 619.
3. Lane DA, Mannucci PM, Ba uer KA et al. Inherited thrombophili a: Part 1. Thromb Haemost 1996; 76: 651– 662.
4. Walker ID, Gre aves M, Preston FE, on behalf of the Haemostasis and Thrombosis Task Force British Committee for Standards in Hematology. Investigati on and management of heritable thrombophili a. Br J Haematol 2001; 114: 512– 528.
5. Rosendaal FR. Veno us thrombosis: the role of genes, environment, and behavi or. Hematology Am Soc Hematol Educ Program 2005; 47: 1– 12.
6. Dulíček P. Trombofilní stavy. Vnitř Lék 2005; 51: 819– 824.
7. Gre aves M, Baglin T. Laboratory testing for heritable thrombophili a: impact on clinical management of thrombotic dise ase annotati on. Br J Haematol 2000; 109: 699– 703.
8. Jick H, Slone D, Westerholm B et al. Veno us thromboembolic dise ase and ABO blo od type. A co operative study. Lancet 1969; 1: 539– 542.
9. Wa utrecht JC, Galle C, Motte S et al. The role of ABO Blo od gro ups in the incidence of deep vein thrombosis. Thromb Haemost 1998; 79: 688– 689.
10. González Ordóñez AJ, Medina Rodriguez JM, Martín L et al. The 0 blo od gro up protects against veno us thromboembolism in individu als with the factor V Leiden but not the prothrombin (factor II G20210A) mutati on. Blo od Co agul Fibrinolysis 1999; 10: 303– 307.
11. Matýšková M, Zavřelová J, Pejchalová A et al. Krevní skupiny AB0/ H a faktor V Leiden. Čas lék čes 2002; 141: 146– 151.
12. Martinelli I, Mannucci PM, De Stefano V et al. Different risks of thrombosis in fo ur co agulati on defects associ ated with inherited thrombophili a: A study of 150 famili es. Blo od 1998; 92: 2353– 2358.
13. Kraaijenhagen RA, in’t Anker PS, Ko opman MM et al. High plasma concentrati on of factor VIIIc is a major risk factor for veno us thromboembolism. Thromb Haemost 2000; 83: 5– 9.
14. Verstraete M. Hyperhomocysteinemi a as a risk factor for arteri al and veno us thrombosis. Hämostase ol 1998; 18: S14– S18.
15. Vorlová Z, Hrachovinová I, Matýšková M. APC- Resistance in Pati ents with a Thromboembolism. In: Hermann FH (ed). Molekulargenetik hereditärer Hämostasedefekte. Greifswalder Hämophili e- Tagung: Pabst Sci ence Publishers 1996: 113– 116.
16. Matýšková M, Paseka J, Vorlová Z et al. Prevalence of factor V Leiden mutati on in he althy women. In: Scharrer I, Schramm W (eds). 29. Hämophili e – Symposi on Hamburg 1998.Berlin Heidelberg: Springer 1999: 309– 311.
17. Dahlbäck B, Carlsson M, Svensson PJ. Famili al thrombophili a due to a previ o usly unrecognized mechanism characterized by po or antico agulant response to activated protein C: Predicti on of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90: 1004– 1008.
18. Bertina RM, Koeleman BP, Koster T et al. Mutati on in blo od co agulati on factor V associ ated with resistance to activated protein C. Nature 1994; 369: 64– 67.
19. Bo uname a ux H. Factor V Leiden paradox: risk of deep- vein thrombosis but not of pulmonary embolism. Lancet 2000; 356: 182– 183.
20. Rosendaal FR, Koster T, Vandenbro ucke JP et al. High risk of thrombosis in pati ents homozygo us for factor V Leiden (activated protein C resistance). Blo od 1995; 85: 1504– 1508.
21. Matýšková M, Vorlová Z, Hrachovinová I et al. Klinické nálezy u jedinců s Leidensko u mutací faktoru V. Vnitř Lék 1997; 43: 298– 301.
22. Dulícek P, Malý J, Safárová M. Risk of thrombosis in pati ents homozygo us and heterozygo us for factor V Leiden in the East Bohemi an regi on. Clin Appl Thromb Hemost 2000; 6: 87– 89.
23. Matýšková M, Šlechtová M, Čech Z et al. Factor V Leiden homozygosity in women. Thromb Res 2009; 123 (Suppl 2): S155. Abstract P54.
24. Gerhardt A, Scharf RE, Zotz RB. Effect of hemostatic risk factors on the individu al probability of thrombosis during pregnancy and the puerperi um. Thromb Haemost 2003; 90: 77– 85.
25. Dulíček P, Malý J, Kalo usek I et al. Výskyt venózního tromboembolizmu u žen s Leidensko u mutací v so uvislosti s gravidito u a šestinedělím. Čes Gynekol 2005; 70: 133– 138.
26. Pomp ER, Lenselink AM, Rosendaal FR et al. Pregnancy, the postpartum peri od and prothrombotic defects: risk of veno us thrombosis in the MEGA study. J Thromb Haemost 2008; 6: 632– 637.
27. Kist WJ, Janssen NG, Kalk JJ et al. Thrombophili as and adverse pregnancy o utcome – A confo und problem! Thromb Haemost 2008; 99: 77– 85.
28. van Dunné FM, Doggen CJ, Heemskerk M. Factor V Leiden mutati on in relati on to fecundity and miscarri age in women with veno us thrombosis. Hum Reprod 2005; 20: 802– 806.
29. Simur A, Özdemir S, Acar H et al. Repe ated in vitro fertilizati on failure and its relati on with thrombophili a. Gynecol Obstet Invest 2009; 67: 109– 112.
30. Eichinger S, Weltermann A, Mannhalter C et al. The risk of recurrent veno us thromboembolism in heterozygo us carri ers of factor V Leiden and a first spontane o us veno us thromboembolism. Arch Intern Med 2002; 162: 2357– 2360.
31. Marchi ori A, Mosena L, Prins MH et al. The risk of recurrent veno us thromboembolism among heterozygo us carri ers of factor V Leiden or prothrombin G20210A mutati on. A systematic revi ew of prospective studi es. Haematologica 2007; 47: 1107– 1114.
32. Ho WK, Hankey GJ, Quinlan DJ et al. Risk of recurrent veno us thromboembolism in pati ents with common thrombophili a: a systematic revi ew. Arch Intern Med 2006; 166: 729– 736.
33. De Stefano V, Martinelli I, Mannucci PM et al. The risk of recurrent veno us thromboembolism among heterozygo us carri ers of the G20210A prothrombin gene mutati on. Br J Hame atol 2001; 113: 630– 635.
34. Lindqvist PG, Svensson PJ, Dahlbäck B et al. Factor V Q506 mutati on (activated protein C resistance) associ ated with reduced intrapartum blo od loss- a possible evoluti onary selecti on mechanism. Thromb Haemost 1998; 79: 69– 73.
35. Zivelin A, Griffin JH, Xu X et al. A single genetic origin for a common ca ucasi an risk factor for veno us thrombosis. Blo od 1997; 89: 397– 402.
36. Zivelin A, Rosenberg N, Fai er S et al. A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene. Blo od 1998; 92: 1119– 1124.
37. Hrachovinová I, Vorlová Z, Matýšková M et al. Thrombotic risk of the prothrombin gene G20210A mutati on and clinical fe atures of thrombophili a in 50 carri ers of the mutati on. Thromb Haemost 1999; Suppl. Abstracts XVII. Congress of the ISTH, Washington: 652, No 2060.
38. Coppens M, van de Poel MH, Bank I et al. A prospective cohort study on the absolute incidence of veno us thromboembolism and arteri al cardi ovascular dise ase in asymptomatic carri ers of the prothrombin 20210A mutati on. Blo od 2006; 108: 2604– 2607.
39. Rossi E, Za T, Ciminello A et al. The risk of symptomatic pulmonary embolism due to proximal deep veno us thrombosis differs in pati ents with different types of inherited thrombophili a. Thromb Haemost 2008; 99: 1030– 1034.
40. Ridker PM, Hennekens CH, Miletich JP. G20210A stati on in prothrombin gene and risk of myocardi al infarcti on, stroke, and veno us thrombosis in a large kohort of US men. Circulati on 1999; 99: 999– 1004.
41. Egeberg O. Inherited antithrombin defici ency ca using thrombophili a. Thromb Di ath Haemorrh 1965; 13: 516– 530.
42. Hule V. Vrozené rodinné snížení antitrombinu III. Vnitř Lék 1977; 23: 887– 892.
43. Hrachovinová I, Habart D, Salaj P et al. Molekulární podstata vrozeného defektu antitrombinu u deseti českých rodin. Čas Lék Čes 2000; 139: 595– 597.
44. van Boven HH, Lane DA. Antithrombin and its inherited defici ency state. Semin Hematol 1997; 34: 188– 204.
45. van Boven HH, Vandenbro ucke JP, Briët E et al. Gene- gene and gene- enviromental interacti ons determine risk of thrombosis in famili es with inherited antithrombin defici ency. Blo od 1999; 94: 2590– 2594.
46. Ra u JC, Be a uli e u LM, Huntington JA et al. Serpins in thrombosis, hemostasis and fibrinolysis. J Thromb Haemost 2007; 5 (Suppl 1): 102– 115.
47. Koster T, Rosendaal FR, Briët E et al. Protein C defici ency in a controlled seri es of unselected o utpati ents: an infrequent but cle ar risk factor for veno us thrombosis (Leiden Thrombophili a Study). Blo od 1995; 85: 2756– 2761.
48. Dykes AC, Walker ID, McMahon AD et al. A study of Protein S antigen levels in 3788 he althy volunteers: influence of age, sex and hormone use, and estimate for prevalence of defici ency state. Br J Haematol 2001; 113: 636– 641.
49. Bro uwer JLP, Veeger NJGM, van der Schaaf W et al. Difference in absolute risk of veno us and arteri al thrombosis between famili al protein S defici ency type I and type III. Results from a family cohort study to assess the clinical impact of a laboratory test‑based classificati on. Br J Haematol 2005; 128: 703– 710.
50. Meijers JCM, Tekelenburg W, Marqu art JA et al. Factor XI levels: A new risk factor for thrombosis. Thromb Haemost 1999; Suppl. Abstracts XVII. Congress ISTH Washington, 496.
51. Cristina L, Benilde C, Michela C et al. High plasma levels of factor VIII and risk of recurrence of veno us thromboembolism. Br J Hame atol 2004; 124: 504– 510.
52. van Hylckama Vli eg A, van der Linden IK, Bertina RM et al. High levels of factor IX incre ase the risk of veno us thrombosis. Blo od 2000; 95: 3678– 3682.
53. Lavigne G, Merci er E, Queré I et al. Thrombophilic famili es with inheritably associ ated high levels of co agulati on factors VIII, IX and XI. J Thromb Haemost 2003; 1: 2134– 2139.
54. Vossen CY, Conard J, Fontcuberta J et al. Famili al thrombophili a and lifetime risk of veno us thrombosis. J Thromb Haemost 2004; 2: 1526– 1532.
55. Matýšková M, Šlechtová M, Zavřelová J et al. Combined FV Leiden and antithrombin defici ency in women. Thrombosis Res 2009; 123 (Suppl 2): S155. Abstract P55.
56. Martinelli I, Legnani C, Bucci arelli P et al. Risk of pregnancy‑related veno us thrombosis in carri ers of severe inherited thrombophili a. Thromb Haemost 2001; 86: 800– 803.
57. Martinelli I, De Stefano V, Tai olo E et al. Inherited thrombophili a and first veno us thromboembolism during pregnancy and puerperi um. Thromb Haemost 2002; 87: 791– 795.
58. van Vlijmen EF, Bro uwer JL, Veeger NJ et al. Oral contraceptives and the absolute risk of veno us thromboembolism in women with single or multiple thrombophilic defects: results from a retrospective family cohort study. Arch Intern Med 2007; 167: 282– 289.
59. Dulíček P, Malý J, Pecka M et al. Veno us thromboembolism in associ ati on with oral contraceptive use: high frequency of inherited thrombophili a and analysis of thrombotic events in 500 Czech women. Thrombosis Res 2009; 123 (Suppl 2): S135. Abstract O13.
60. Green D. Genetic hyperco agulability: screening sho uld be an informed cho ice. Blo od 2001; 98: 20.
61. Mannucci PM. Genetic hyperco agulability: preventi on suggests testing family members. Blo od 2001; 98: 21– 22.
62. Martinelli I. Pros and cons of thrombophili a testing: pros. J Tromb Haemost 2003; 1: 410– 411.
63. Machin SJ. Pros and cons of thrombophili a testing: cons. J Tromb Haemost 2003; 3: 412– 413.
64. Dalen JE. Sho uld pati ents with veno us thromboembolism be screened for thrombophili a? Am J Med 2008; 121: 458– 463.
65. Lane DA, Mannucci PM, Ba uer KA et al. Inherited thrombophili a: Part 2. Thromb Haemost 1996; 76: 824– 834.
66. Hirsh J, Lee AY. How we di agnose and tre at deep vein thrombosis. Blo od 2002; 99: 3102– 3110.
67. Tali ani MR, Becattini C, Agnelli G et al. Durati on of antico agulant tre atment and recurrence of veno us thromboembolism in pati ents with and witho ut thrombophilic abnormaliti es. Thromb Haemost 2009; 101: 596– 598.
68. Grand’Maison A, Bates SM, Johnston M et al. “ProC Global”: A functi onal screening test that predicts recurrent veno us thromboembolism. Thromb Haemost 2005; 93: 600– 604.
69. Eichinger S, Hron G, Hirschl M et al. Predicti on of recurrent veno us thromboembolism by me asuring ProC Global. Thromb Haemost 2007; 98: 1232– 1236.
70. Sanson BJ, Simi oni P, Tormene D et al. The incidence of veno us thromboembolism in asymptomatic carri ers of a defici ency of antithrombin, protein C, protein S: A prospective cohort study. Blo od 1999; 94: 3702– 3706.
71. Ke aron C, Juli an JA, Kovacs MJ et al. Influence of thrombophili a on risk of recurrent veno us thromboembolism while on warfarin: results from a randomized tri al. Blo od 2008; 112: 4432– 4436.
72. Tormene D, Simi oni P, Prandoni P et al. The incidence of veno us thromboembolism in thrombophilic children: a prospective cohort study. Blo od 2002; 100: 2403– 2405.
73. Yo ung G, Albisetti M, Bonduel M et al. Impact of inherited thrombophili a on veno us thromboembolism in children: A systematic revi ew and meta‑analysis of observati onal studi es. Circulati on 2008; 118: 1373– 1382.
74. De Stefano V, Rossi E, Paci aroni K et al. Screening for inherited thrombophili a: indicati ons and therape utic implicati ons. Haematologica 2002; 87: 1095– 1108.
75. Vandenbro ucke JP, van der Meer FJ, Helmerhorst FM et al. Factor V Leiden: Sho uld we screen oral contraceptive users and pregnant women? BMJ 1996; 313: 1127– 1130.
76. Clark P, Twaddle S, Walker ID et al. Cost‑effectiveness of screening for the factor V Leiden mutati on in pregnant women. Lancet 2002; 359: 1919– 1920.
77. Blanco- Molina Á, Trujillo- Santos J, Tirado R et al. Veno us thromboembolism in women using hormonal contraceptives. Findings from the RIETE Registry. Thromb Haemost 2009; 101: 478– 482.
78. Procházka M, Krčová V, Prášilová J et al. Tromboembolická nemoc v těhotenství. Gynekolog 1999; 2: 79– 81.
79. Wu O, Robertson L, Twaddle S et al. Screening for thrombophili a in high‑risk situ ati ons: a meta‑analysis and cost‑effectiveness analysis. Br J Haematol 2005; 131: 80– 90.
80. Atherosclerosis, Thrombosis, and Vascular Bi ology Itali an Study Gro up: No evidence of associ ati on between prothrombotic gene polymorphisms and the development of acute myocardi al infarcti on at a yo ung age. Circulati on 2003; 107: 1117– 1122.
81. De Stefano V, Fi orini A, Rossi E et al. Incidence of the JAK2 V617F mutati on among pati ents with splanchnic or cerebral veno us thrombosis and witho ut overt chronic myeloproliferative disorders. J Thromb Haemost 2007; 5: 708– 714.
82. Tonde ur S, Bo utruche S, Biron- Andréani C et al. Prevalence of the JAK2 V617F mutati on associ ated with splanchnic vein thrombosis. A 10- ye ar retrospective study. Thromb Haemost 2009; 101: 787–789.
83. Bauer KA. The Thrombophilias: Well‑Defined Risk Factors with Uncertain Therapeutic Implications. Arch Intern Med 2001; 135: 367–373.
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