Thrombophilia
Authors:
P. Ďulíček
Authors‘ workplace:
Oddělení klinické hematologie II. interní kliniky Lékařské fakulty UK a FN, Hradec Králové, přednosta prof. MUDr. Jaroslav Malý, CSc.
Published in:
Vnitř Lék 2005; 91(7 a 8): 819-825
Category:
128th Internal Medicine Day - 21rd Vanysek's Day Brno 2005
Overview
Venous thromboembolism is still major medicinal problem. In the last couple of years, the significant progress concerning the etiopathogesis of this disease has been made, which could enable us to explain the cause of many cases of venous thrombosis, mainly with the familiar occurrence. The knowledge of criteria of the indication for thrombophilia work–up and especially pragmatic clinical interpretation of results are very important. These results together with perfect knowledge of family and personal history of venous thrombosis can help us to assess thrombophilic potential of every individual and enable us to choose the correct strategy of thromboprophylaxis.
Key words:
venous thromboembolism – thrombophilia – prophylaxis of venous thrombosis
Sources
1. Goldhaber SZ. Epidemiology of pulmonary embolism and deep vein thrombosis. In: Tuddenham EGD, Bloom AL, Forbes CD et al. Hemostasis and Thrombosis. Edinburg: Churchill Livingstone 1994: 1327–1333.
2. Anderson FA, Wheeler HB, Goldberg RJ et al. A population-based perspective of the hospital incidence and case–fatality rates of deep vein thrombosis and pulmonary embolism. Arch Intern Med 1991; 151: 933–938.
3. Nordström M, Lindblad B, Berqvist D et al. A prospective study of the incidence od deep vein thrombosis with a defined urban population. J Intern Med 1992; 232: 155–160.
4. Silverstein MD, Heit JA, Mohr DN et al. Trends in the incidence of deep vein thrombosis and pulmonary embolism. Arch Intern Med 1998; 158: 585–593.
5. Virchow R Thrombose und Embolie. Vol Gesammelte Abhandlungen zur wissenschaftlichen Medizin. Berlin: Verlag Maxirsch 1865: 219.
6. Bertina RM Molecular risk factors for thrombosis. Thromb Haemost 1999; 82: 601–609.
7. Samama MM. An epidemiologic study of risk factors for deep vein thrombosis in medical outpatients – the Sirius Study. Arch Intern Med 2000; 160: 3415–3420.
8. Rosendaal FR. Risk factors for venous thrombotic disease. Thromb Haemost 1999; 82: 610–619.
9. den Heyer M, Koster T, Bloom HJ et al. Hyperhomocysteinemia as a risk factor for deep–vein thrombosis. N Engl J Med 1996; 334: 759–762.
10. Koster T, Blann AD, BriËt E et al. Role of clotting factor VIII in effects of von Willebrand factor on occurrence of deep-vein thrombosis. Lancet 1995; 345: 152–155.
11. van Hylckama Vlieg A, van der Linden IK, Bertina RM et al. High levels of factor IX increase the risk of venous thrombosis. Blood 2000; 95: 3678–3682.
12. Meijers JCM, Tekelenburg WLH, Bouma BN et al. High levels of coagulation factor XI as a risk factor for venous thrombosis. N Engl J Med 2000; 342: 696–701.
13. van Tilburg NH, Rosendaal FR, Bertina RM. Thrombin activatable fibrinolysis inhibitor and the risk for deep vein thrombosis. Blood 2000; 95: 2855–2859.
14. Egeberg O Inherited antithrombin deficiency causing thrombophilia. Thromb Diath Haemorrh 1965; 13: 516–530.
15. Griffin JH, Evatt B, Zimmerman TS et al. Deficinecy of protein C in congenital thrombotic disease. J Clin Invest 1981; 68: 1370–1373.
16. Schwarz HP, Fisher M, Hapmeier P et al. Plasma protein S deficiency in familial thrombotic disease. Blood 1994; 64: 1297–1300.
17. Comp PC, Nixon RR, Cooper MR et al. Familial protein S deficiency is associated with recurrent thrombosis. J Clin Invest 1984; 74: 2082.
18. Comp PC, Esmon CT. Recurrent venous thromboembolism in patients with a partial deficiency of protein S. N Engl J Med 1984; 311: 1525–1528.
19. Dahlbäck 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 Scad Sci USA 1993; 90: 1004–1008.
20. Bertina RM, Koeleman BPC, Koster T et al. Mutation in blood coagulation factor V associtated with resistance to activated protein C. Nature 1994; 369: 64–67.
21. Poort SR, Rosendaal FR, Reitsma PH et al. A common genetic variation in the 3’-untraslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an in venous thrombosis and an increase in venous thrombosis. Blood 1996; 88: 3698–3703.
22. Walker ID, Greaves M, Preston FE. Guideline. Investigation and management of heritable thrombophilia. Br J Haematol 2001; 114: 512–528.
23. Lane DA, Mannucci PM, Bauer KA et al. Inherited thrombophilia. Part I. Thromb Haemost 1996; 76: 651–652.
24. Mateo J, Oliver A, Borrell M et al. Laboratory evaluation and clinical characterisation of 2132 consecutive unselected patients with venous thromboembolism – results of the Spanish multicentre study
on thrombophilia (EMET – Study). Thromb Haemost 1997; 77: 444–451.
25. Heijboer H, Brandjes DPM, Büller HR et al. Deficiencies of coagulation inhibiting and fibrinolytic proteins in outpatients with deep vein thrombosis. N Engl J Med 1990; 332: 1512–1516.
26. Miletich JP, Sherman L, Broze GI. Absence of tbrombosis in subjects with heterozygous protein C deficiency. N Engl J Med 1987; 317: 991–996.
27. Tait RC, Walker ID, Reitsma PH et al. Prevalence of protein C deficiency in the healthy population. Thromb Haemost 1995; 73: 87–93.
28. Koster T, Rosendaal FR, BriËt E 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: 2756–2761.
29. Faioni EM, Valsecchi C, Palla A et al. Free protein S deficiency is a risk factor for venous thrombosis. Thromb Haemost 1997; 78: 1343–1346.
30. Seligsohn U, Berger A, Abend M et al. Homozygous protein C deficiency manifested by massive venous thrombosis i the newborn. N Engl J Med l984; 310: 559–562.
31. McGehee WG, Klotz TA, Epstein DJ et al. Coumarin necrosis associated with hereditary protein C deficiency. Ann Intern Med 1984; 101: 59–60.
32. Malm J, Laurell M, Nilsson IM et al. Thromboembolic disease – critical evaluation of laboratory investigation. Thromb Haemost 1992; 740: 9–15.
33. Svensson Pj, Dahlbäck B Resistance to activated protein C as a basis for thrombosis. N Engl J Med 1994; 330: 517–522.
34. Williamson D, Brown K, Luddigton et al. Factor V Cambridge: a new mutation (Arg 306-Thr) associated with resistance to activated protein C. Blood 1998; 91: 1140–1144.
35. Bernardi F, Faioni EM, Castoldi E et al. A factor V genetic component differing from factor F R506Q contributes to activated protein C phenotype. Blood 1997; 90: 1552–1557.
36. Meinardi JR, Henkens CMA, Heringa MP et al. Acquired APC resistance related to oral contraceptives and pregnancy and its possible implications for clinical practise. Blood Coag Fibrinol 1997; 8: 152–154.
37. Olivieri O, Friso S, Manzato F et al. Resistance to activated protein C in healthy women taking oral contraceptives. Br J Haematol 1995; 91: 465–470.
38. Green D, Maliekel K, Sushko E et al. Activated protein C in cancer patients. Thromb Haemost 1997; Suppl: 316.
39. Mathonnet F, de Mazancourt P, Denninger MM et al. Role of factor VIII on activated protein C resistance ratio in inflammatory diseases. Br J Haematol 1996; 95: 423–425.
40. Dahlbäck B. Resistance to activated protein C caused by the R506Q mutation in the gene for factor V is a common risk factor for venous thrombosis. J Intern Med 1997; 242(Suppl 740): 1–8.
41. Nojima J, Kuratsune H, Suehisa E et al. Acquired activated protein C resistance is associated with the co-existence of anti-prothrombin antibodies and lupus anticoagulant activity in patients with systematic lupus erythematosus. Br J Haematol 2002; 118: 57–83.
42. Svensson PJ, Zöller B, Dahlbäck B. Evaluation of original and modified APC-resistance tests in unselected outpatients with clinically suspected trombosis and in healthy controls. Thromb Haemost 1997; 77: 332.
43. de Visser MCH, Rosendaal FR, Bertina RM. A reduced sensitivity for activated protein C in the absence of factor V Leiden increases the risk of venous thrombosis. Blood 1999; 93: 1271–1276.
44. Rodeghiero F, Tosseto A. Activated protein C resistance and factor V Leiden mutation are independent risk factors for venous thromboembolism. Ann Intern Med 1999; 130: 643–650.
45. Chan WP, Lee CK, Kwong YL et al. A novel mutation of Arg 306 of factor V gene in Hong Kong Chinese. Blood 1998; 91: 1135.
46. Rosendaal FR, Doggen CJM, Zivelin A et al. Geographic distribution of the 20210 G to A prothrombin variant. Thromb Haemost 1998; 79: 706–708.
47. Bertina RM. Genetic approach to thrombophilia. Thromb Haemost 2001; 86: 92–103.
48. Hughes GRV, Harris EN, Gharavi AE. The anticardiolipin syndrome. J Rheumatol 1986; 13: 486–489.
49. Galli M, Comfurius P, Barbui T et al. Anticoagulant activity of β2-glycoprotein I is potentiated by a distinct subgroup of anticardiolipin antibodies. Thromb Haemost 1992; 68: 217.
50. Roubey RAS. Immunology of the antiphospholipid antibody syndrome. Arthritis Rheum 1996; 39: 1444–1454.
51. Levine JS, Branch D, Rauch J. The antiphospholipid syndrome. N Engl J Med 2002; 346: 752–763.
52. Ginsberg JS, Weles PS, Brill–Edwards P et al. Antiphospholipid antibodies and venous thromboembolism. Blood 1995; 86: 3685–3691.
53. Simioni P, Prandoni P, Zanon E ta al. Deep venous thrombosis and lupus anticoagulant. Thromb Haemost 1996; 76: 187–189.
54. O’Donnell J, Tuddenham EGD, Manning R et al. High prevalence of elevated F VIII levels in patients reffered for thrombophilia screening: role of increased synthesis and relationship to the acute phase reaction. Thromb Haemost 1997; 77: 825–828.
55. Kamphuisen PW, Houwing-Duistermaat JJ, van Houwelingen JC et al. Familial clustering of factor VIII and von Willebrand factor levels. Thromb Haemost 1998; 79: 323–327.
56. Mansveld EPG, Laftan M, McVey JH et al. Analysis of the F8 gene in individuals with high plasma factor levels and associated venous thrombosis. Thromb Haemost 1998; 80: 561–565.
57. Kamphuisen PW, Eikenboom JCJ, Vos HL et al. Two highly variable CA repeat polymorphism in the factor VIII gene and the risk of venous thrombosis. Blood 1998; 90: 97a.
58. Falcon CR, Cattaneo M, Panzeri D et al. High prevalence of hyperhomocysteinemia in patients with juvenile venous thrombosis. Arterioscler Thromb 1994; 14: 1080–1083.
59. Simioni P, Prandoni P, Burlina A et al. Hyperhomocysteinemia and deepvein thrombosis: a case control study. Thromb Haemost 1996; 76: 883–886.
60. Den Heijer M, Rosendaal FR, Blom HJ et al. Hyperhomocysteinemia and venous thrombosis: a meta analysis. Thromb Haemost 1998; 80: 874–877.
61. D’Angelo A, Selhub J Homocysteine and thrombotic disease. Blood 1997; 90: 1–11.
62. Kang SS, Wong PWK, Norusis M. Homocysteinemia due to folate deficiency. Metabolism 1987; 36: 458–462.
63. Rees MM, Rodgers GM. Homocysteinemia: association of a metabolic disorder with vascular disease and thrombosis. Thrombosis Research 1993; 71: 337–359.
64. Ubbink JB, Vermaak WJ, van der Merwe et al. Vitamin B12, vitamin B6, and folate nutritional status in men with hyperhomocysteinemia. Am J Clin Nutr 1993; 57: 47–53.
65. Engbertsen AMT, Franken DG, Boers GHJ et al. Thermolabile 5,10–methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia. Am J Hum Genet 1995; 56: 142–150.
66. Frosst P, Blom HJ, Milos R et al. A candidate genetic risk factor for vascular disease a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995; 10: 111–113.
67. Arruda V, von-Zuben P, Chiaparini L et al. The mutation Ala 677 Val in the methylene tetrahydrofolate reductase gene: a risk factor for arterial disease and venous thrombosis. Thromb Haemost 1997; 77: 818–821.
68. Salden A, Keeney S, Hay C et al. The C677T MTHFR variant and the risk of venous thrombosis (Letter). Br J Haematol 1997; 99: 472.
69. Tosseto A, Missiaglia E, Frezzato M et al. The VITA project: C677T mutation in the methylen – tetrahydrofolate reductase gene and the risk of venous thromboembolism. Br J Haematol 1997; 97: 804–806.
70. Brown K, Luddington R, Baglin T. Effect of the MTHFRC677T variant on the risk of venous thromboembolism: interaction with factor F V Leiden and prothrombin (F2G20210A) mutations. Br J Haematol 1998; 103: 42–44.
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