Thrombophilia: When, which test and whom?;Trombofilia, ¿cuándo, que pruebas y a quién?

Seminarios de la Fundacion Espanola de Reumatologia

Volumn 6, Issue 4, 2005, Pages 133-143

  Gutiérrez Tous, María Reyes ^a  

^a HOSPITAL UNIVERSITARIO DE VALME   (Spain)

Author keywords

Screening of thrombophilia; Thrombophilia; Thrombophilic risk

Indexed keywords

ACTIVATED PROTEIN C; ACTIVATED PROTEIN C RECEPTOR; ANTITHROMBIN III; BLOOD CLOTTING FACTOR 10; BLOOD CLOTTING FACTOR 11; BLOOD CLOTTING FACTOR 12; BLOOD CLOTTING FACTOR 5 LEIDEN; BLOOD CLOTTING FACTOR 8; BLOOD CLOTTING FACTOR 9; HOMOCYSTEINE; PROTEIN C; PROTEIN S; PROTHROMBIN; RECEPTOR; THROMBIN ACTIVATABLE FIBRINOLYSIS INHIBITOR; UNCLASSIFIED DRUG;

ANTITHROMBIN III DEFICIENCY; BLOOD CLOTTING FACTOR 5 DEFICIENCY; FAMILY STUDY; FETUS WASTAGE; GENETIC DISORDER; GENETIC RISK; HETEROZYGOTE; HUMAN; HYPERHOMOCYSTEINEMIA; PREGNANCY COMPLICATION; PROTEIN C DEFICIENCY; PROTEIN S DEFICIENCY; PROTHROMBIN DEFICIENCY; REVIEW; RISK FACTOR; SCREENING TEST; SUDDEN DEATH; SYMPTOM; THROMBOPHILIA; THROMBOSIS PREVENTION; VENOUS THROMBOEMBOLISM;

EID: 31044456127     PISSN: 15773566     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1577-3566(05)74496-1     Document Type: Review

References (102)

1. Lane DA, Mannucci PM, Bauer KA, Bertina RM, Bochokov NP, Boulyjenkov V, et al. Inherited thrombophilia. Part I Thromb Haemost. 1996;76:651-2.
2. Lane DA, Olds R, Boisclair M. Antithrombin III mutation database: first update. Thromb Haemost. 1993;70:361-9.
3. Lane DA, Bayston T, Olds R. Antithrombin mutation database: 2nd (1997) update. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost. 1997;77:197-211.
4. Bayston TA, Lane DA. Antithrombin: molecular basis of deficiency. Thromb Haemost. 1997;78:339-343.
5. Takenaga M, Horinouchi K, Shirieda K, Fukudome T, Fujimoto T. A novel nonsense mutation in the AntiTrombina III gene (Ser365to Stop) causing Deep and Mesenteric Venous Thromboses. Thromb Haemost. 2001;85:570-1.
6. Koster T, Rosendaal FR, Briet 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;85:2756-61.
7. Reitsma PH, Bernardi F, Doig RG, et al. Protein C deficiency: a database of mutation, 1995 update. On behalf of the Subcommittee On Plasma coagulation Inhibir of the Scientific and Standardization Committee of the ISTH. Thromb Haemost. 1995;73:876-889.
8. Koleman BP, Reitsma PH, Bertina RM. Familial thrombophilia: a complex genetic disorder. Seminar in Haematology. 1997;34:256-64.
9. Scott TB, Bovill EG, Callas PW, et al. Genetic screening of candidates genes for a prothrombotic interaction with type I Protein C. Thromb Haemostas. 2001;85:82-7.
10. Gutiérrez Tous MR, Couto Caro C, Simón Pilo I, Urdanbidelus Aza C. Déficit de proteina C, polimorfismos de la protrombina G20210A y de la metilenetetrahidrofolatoreductasa C677T: Estudio familiar. Jornadas de la AAHH 2004. Libro de las Jornadas.
11. Van der Meer JLM, Koster T, Brandenbroucke JP, Briet E, Rosendaal FR. The Leiden Thrombophilia Study (LETS). Thromb Haemost. 1997;78:631-5
12. Grandville S, Borgel D, Ireland H, et al. Protein S deficiency: a database of mutation. For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis. Thromb Haemost. 1997;77:1201-14.
13. Simioni P. The molecular genetics of familial venous thrombosis. Bailliere's Clinical Haematology. 1999;12:479-503.
14. Makris M, Leach M, Beauchamp NJ, et al. Genetic analysis, phenotypic diagnosis and risk of venous thrombosis in families with inherited deficiencies of Protein S. Blood. 2000;95:1935-41.
15. Martinelli I, Mannucci PM, De Stefano V, et al. Different risk of thrombosis in four coagulation defects associated with inherited thrombophilia: a study of 150 families. Blood. 1998;92:2353-8.
16. Bertina RM, Koeleman BP, Koster T, et al. Mutation in blood coagulation Factor V associated with resistance to activated protein C. Nature. 1994;369:64-7.
17. Rees DC. The population genetics of Factor V Leiden (Arg506Gln). Br J Haematol. 1996;95:579-86.
18. De Stefano V, Chiusolo P, Paciaroni K, Leone G. Epidemiology of factor V Leiden: clinical implications. Sem Thromb Haemost. 1998;24:367-79.
19. Taher A, Khalil I, Shamseddine A, El-Ahdab F, Bazarbachi A. High prevalence of Factor V Leiden Mutation among healthy individuals and patients with deep venous thrombosis in Lebanon: in the Eastern Mediterranean region the area of origin of this mutation? Thromb Haemost. 2001;86:723-4.
20. Bennett JA, Palmer LJ, Musk AW, Erber WN. Prevalence of Factor V Leiden and Prothrombin 20210 Mutations in indigenous Australians. Tromb Haemost. 2001;86:1592-3.
21. Gutiérrez Tous MR, Couto Caro MC, García-Donas G, Simón Pilo I. Prevalencia de los polimorfismos genéticos asociados a trombofilia en población sana del sur de España. Med Clin. 2004;122:556-7.
22. Gutiérrez MR, García-Donas G, Couto C, Simón I, Urdanbidelus C. Factor de riesgo trombofílico en polimorfismos. Haematologica. 2004;89:161.
23. Koster T, Rosendaal FR, Reitsma PH, Bertina RM. Venous Thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study. Lancet. 1993;342:1503-6.
24. Simioni P, Sanson BJ, Prandoni P, et al. Incidence of venous thromboembolism in families with inherited thrombophilia. Thromb Haemost. 1999;81:198-202.
25. Emmerich J, Rosendaal FR, Castanet M, et al. Combined effect of Factor V Leiden and Prothrombin 20210 on the risk of venous thromboembolism. Thromb Haemost. 2001;86:809-16.
26. 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.
27. Simioni P, Tormene D, Prandoni P, et al. Incidence of venous thromboembolism in asyntomatic family members who are carriers of factor V Leiden: a prospective cohort study. Blood. 2002;99:1938-42.
28. Rosendaal FR, Koster T, Vandenbrouke JP, Reitsma PH. High risk of thrombosis in patients homozygous for factors V Leiden. Blood. 1995;85:1504-8.
29. Ekhoff EM, Rosendaal FR, Vandenbrouke JP. Minor evens and the risk of deep venous thrombosis. Thromb Haemost. 2000;83:408-11.
30. Manten B, Westendorp RG, Koster T, Reitsma PH, Rosendaal FR. Risk factor profiles in patients with different clinical manifestation of venous thromboembolism: a focus on the factor V Leiden mutation. Thromb Haemost. 1996;76:510-3.
31. Hoekema L, Castoldi E, Tans G, et al. Functional properties of Factor V and Factor Va encoded by the R2 gene. Thromb Haemost. 2001;85:75-81.
32. Benson JM, Ellingsen D, El-Jamil M, et al. Factor V Leiden and Factor V R2 allele: High-throughput analysis and association with venous thromboembolism. Thromb Haemost. 2001;86:1188-92.
33. Williamson D, Brown K, Ludington R, Baglin C, Baglin T. Factor V Cambridge: a new mutation (Arg306Thr) associated with resistance to activated protein C. Blood. 1998;91:1140-4.
34. Ten Cate AJ, Van de Hock YT, Reitsma PH, Ten Cate H, Smits P. Mutation screening for thrombophilia: two cases with Factor V Cambridge without activated Protein C resistance. Thromb Haemost. 2002;87:919-20.
35. Lunghi B, Scanavbini D, Castoldi E, et al. The factor V Glu 1608 Lys mutation is recurrent in familial thrombophilia. J Thromb Haemost. En prensa 2005.
36. Faioni EM, Castaman G, Asti D, Lussana F, Rodeghiero F. Association of factor V deficiency with factor V HR2. Haematologica. 2004;89:195-200.
37. 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 increase in venous thrombosis. Blood. 1996;88:3698-703.
38. Zivelin A, Rosenberg N, Faier S, et al. A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene. Blood. 1998;92:1119-24.
39. Ceelie H, Bertina RM, Van Hylckama Vlieg A, Rosendaal FR, Vos HL. Polymorphism in the prothrombin gene and their association with plasma prothrombin levels. Thromb Haemost. 2001;85:1066-70.
40. Wylenzek M, Geinsen C, Stapenhorst L, Wielckens K, Klingler KR. A novel point mutation in the 3 region of the Prothrombin gene at position 20221 in a Lebanese/Syrian family. Thromb Haemost. 2001;85:943-4.
41. Rosendaal FR, Doggen CJ, Zivelin A, et al. Geographic distribution of the 20210 G to A prothrombin variant. Thromb Haemost. 1998;79:706-8.
42. Martinelli I, Bucciarelli P, Margaglione M, De Stefano V, Castaman G, Mannucci PM. The risk of venous thromboembolism in family members with mutation in the gene of Factor V or Prothrombin or both. Br J Haematol. 2000;111:1223-9.
43. Mannucci PM. Aspects of the clinical management of hereditary thrombophilia: a personal perspective. Haemostasis. 2000;30:11-5.
44. Kluijtmans LL, Den Heijer M, Reitsma PH, et al. Thermolabile methylenetetrahydrofolate reductase and factor V Leiden in the risk of deep-vein thrombosis. Thromb Haemost. 1998;79:254-8.
45. Rees MM, Rodgers GM. Homocysteinemia: association of a metabolic disorder with vascular disease and thrombosis. Thromb Reseach. 1993;71:337-59.
46. Cattaneo M. Hyperhomocysteinemia, atherosclerosis and thrombosis. Thromb Haemost. 1999;81:165-79.
47. Guba SC, Fonseca V, Fink LM. Hyperhomocisteinemia and thrombosis. Sem Thromb Haemost. 1999;25:291-309.
48. Froot P, Blom H, Milos R, et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nature Genetics. 1995;10:111-3.
49. De Stefano V, Casorelli I, Rossi E, Zappacosta B, Leone G. Interaction between hyperhomocysteinemia and inherited thrombophilic factors in venous thromboembolism. Sem Thromb Haemost. 2000;26:305-11.
50. Mandel H, Brenner B, Berant M, et al. Coexistence of hereditary homocystinuria and factor V Leiden- effect of thrombosis. N England J Med. 1996;334:763-8.
51. De Stefano V, Zap Acosta B, Persichilli S, et al. Prevalence of mild hyperhomocysteinaemia and association with thrombophilic genotypes (factor V Leiden and prothrombin G20210A) in Italian patients with venous thromboembolic disease. Br J Haematol. 1999;106:564-8.
52. 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;345:152-5.
53. O'Donnell J, Tuddenham EG, Manning R. Higt prevalence of elevated factor levels in patients referred for thrombophilia screening. Thromb Haemost. 1997;77:825-8.
54. Kamphuisen PW, Eikenboom JC, Vos HL, et al. Incresed levels of Factor VIII and Fibrinogen in patients with venous thrombosis are not caused by acute phase reactions. Thromb Haemost. 1999;81:680-3.
55. Tripodi A. Levels of coagulation factors and venous thromboembolism. Haematologica. 2003;88:705-11.
56. Kamphuisen PW, Eikenboom JC, Rosendaal FR, et al. High Factor VIII antigen levels increase the risk of venous thrombosis but are nor associated with polymorphism in the von Willebrand factor and factor VIII gene. Br J Haematol. 2001;115:156-8.
57. Kyrle PA, Minar E, Hirschl M, et al. High plasma levels of factor VIII and the risk of recurrent venous thromboembolism. N Engl J Med. 2000;343:457-62.
58. Van Hylckama Vlieg A, Van der Linden IK, Bertina RM, Rosendaal FR. High levels of Factor IX increase the risk of venous thrombosis. Blood. 2000;95:3678-82.
59. Meijers JC, Tekelenburg WL, Bouma BN, Bertina RM, Rosendaal FR. High levels of coagulation factor XI as a risk factor for venous thrombosis. N Engl J Med. 2000;324:696-701.
60. De Viser MCH, Poort SR, Vos HL, Rosendaal FR, Bertina RM. Factor X levels, Polymorphism in the promoter region of factor X, and the risk of venous thrombosis. Thromb Haemost. 2001;85:1011-7.
61. Rodeghiero F, Tosetto A. Activated Protein C Resistance and Factor V Leiden mutation are independent risk factor for venous thromboembolism. Ann Intern Med. 1999;130:643-50.
62. De Viser MCH, Rosendaal FR, Bertina RM. A reduced sensitivity for activated Protein C in the absense of Factor V Leiden increases the risk of venous thrombosis. Blood. 1999;93:1271-6.
63. De Viser MCH, Guash JF, Kamphuisen PW, Vos HL, Rosendaal FR, Bertina RM. The HR2 haplotype of factor V: effects on Factor V levels, normalizad activated protein C sensitivity ratios and the risk of venous thrombosis. Thromb Haemost. 2000;83:577-82.
64. Greer IA. Thrombosis in Pregnancy: maternal and fetal issues. Lancet. 1999;353:1258-65.
65. Greaves M, Preston FE. Rebuttal to: oral contraceptives and venous thromboembolism. Thromb Haemost. 2001;85:932-4.
66. Van Tilburg NH, Rosendaal FR, Bertina RM. Thrombin activalable fibrinolysis inhibitor and the risk for deep vein thrombosis. Blood. 2000;95:2855-9.
67. Henry M, Aubert H, Morange PE, et al. Identification of Polymorphism in the promoter and the 3 region of the TAFI gene: evidence the plasma TAFI antigen levels are strongly genetically controlled. Blood. 2001;977:2053-8.
68. Tregouet DA, Aubrt H, Henry M, et al. Combined segregation-linkage analysis of plasma thrombin activatable fibrinolysis inhibitor (TAFI) antigen levels with TAFI gen polymorphism. Him Genet. 2001;109:191-7.
69. Simmonds RE, Lane DA. The endothelial cell protein C receptor: a candidate genetic risk factor for thrombosis. Thromb Haemost. 2001;86:939-41.
70. Von Depka M, Czwalinna A, Roswith E, et al. Prevalence of a 23bp insertion in exon of the endothelial cell Protein C Receptor gene in venous thrombophilia. Thromb Haemost. 2001;86:1360-2.
71. Kanaji T, Okamura T, Osaki K, Kuroiwa M, Shimoda K, Hamasaki N, et al. A common genetic polymorphism (46 C to T substitution) in the 5'-Untranslated region of the coagulation factor XII gene is associated with low translation efficiency and decrease in plasma factor XII level. Blood. 1998;91:2010-14.
72. Bertina RM, Poort SR, Vos HL, Rosendaal FR. The 46 C-T polymorphism in the factor XII gene (F 12) and the risk of venous thrombosis. J Thromb Haemost. 2005;3:597.
73. Soria. A quantitative trait locus in the human factor XII gene influences both plasma factor XII levels and susceptibility to thrombosis disease. Am J Human Genet. 2002;70:567-74.
74. Farquharson RG, Siobhan Q, Greves M. Antiphospholipid Syndrom in pregnancy: a randomized, controlled trial of treatment. Obstet Gynecol. 2002;100:408-13.
75. Field SL, Brighton TA, McNeil HP, Chesterman CN. Recent insight into antiphospholipid antibody-mediated thrombosis. Baillier's Clinical Haematology. 1999;12:407-22.
76. Brandt JT, Triplett DA, Alving B, Scharren I. Criteria for the Diagnosis of Lupus Anticoagulants: An Update On behalf of the Subcommittee on Lupus Anticoagulant/Antiphospholipid Antibody of the Scientific and Standardisation Committee of the ISTH. Thromb Haemost. 1995;74:1885-90.
77. Wilson WA, Gharavi AE, Koike T, Lockshin MD, Branch DW, Piette JC, et al. International consensus statement on preliminary classification criteria for definitive Antiphospholipid syndrome. Arthritis Rheum. 1999;42:1309-11.
78. Martinelli I, De Stefano V, Taioli E, Paciaroni K, Rossi E, Mannucci PM. Inherited thrombophilia and first venous thromboembolism during pregnancy and puerperium. Thromb Haemost. 2002;87:791-5.
79. Martinelli I, Legnani C, Bucciarelli P, Grandone E, De Stefano V, Mannucci PM. Risk of Pregnancy- related venous Thrombosis in carriers of severe inherited thrombophilia. Thromb Haemost. 2001;86:800-3.
80. Zuazu-Jausoro, Pérez-Ceballos E, Candela-García MJ, Lozano ML. Tratamiento de la enfermedad tromboembolica durante la gestación y en pediatría. Angiologia. 2003;55:94-9.
81. Gerhadt A, Scharf RE, Beckman MW. Phrotrombin and Factor V Mutation in women with a history of thrombosis during pregnancy and the puerperium. N Engl J Med. 2000;342:374-80.
82. Rand JH, Wu XX, Andree HAM, Lockwood CJ, Culler S, Scher J, et al. Pregnancy loss in the Antiphospholipid antibody syndrome a possible thrombogenic mechanism. N Engl J Med. 1997;337:154-60.
83. Polzin WJ, Kopelman JN, Robinson RD, Read JA, Brady K. The association of Antiphospholipid Antibodies with pregnancies complicated by fetal growth restriction. Ostet Gynecol. 1991;78:1108-11.
84. Kupfermine MJ, Fait G, Many A, Gordon D, Eldor A, Lessing JB. Severe preeclampsia and high frequency of genetic thrombophilic mutations. Obstet Gynecol. 2000;96:45-9.
85. Graandone E, Margaglione M, Colaizzo D, Pavone G, Paladini D, Martinelli P, et al. Lower birth weight in neonates of mothers carrying factor V G1691A and factor IIA20210 mutations. Haematologica. 2002;87:177-81.
86. Von Kries R, Junker R, Oberle D, Kosch A, Nowak-Gottl U. Foetal Growth Restriction in children with prothrombotic risk factors. Thromb Haemost. 2001;86:1012-6.
87. Wiener-Megnagi Z, Ben-Shlomo I, Golberg Y, Shalev E. Resistence to activated protein C and the Leiden mutation: high prevalence in patients with abhruptio placentae. Am J Obstet Gynecol. 1998;179:1565-7.
88. Infante-Rivard C, Rivard GE, Yotov WV, Genin E, Guiguet M, Weinberg C, et al. Absence of association of thrombophilia polymorphisms with intrauterine growth restriction. N Engl J Med. 2002;347:19-25.
89. Kujovich JL. Thrombophilia and pregnancy complications. Am J Obstet Gynecol. 2004;191:412-24.
90. Gutiérrez Tous MR, Simón I, Couto MC, et al. Genetic polymorphism Factor XII 46C-T and obstetric complications. Haematologica. 2005;90 Supp 2:35.
91. Hoibraaten E, Quigstad E, Andersen TO, Mowinckel MC, Sandsef PM. The effect of hormone replacement therapy (HRT) on haemostatic variables in women with previous venous thromboembolism- results from a randomized, double-blind, clinical trial. Thromb Haemost. 2001;85:775-81.
92. Vehkavaara S, Silveira A, Hakala-Ala-Pietila T, et al. Effect of oral and transdermal estrogen replacement therapy on markers of coagulation, fibrinolysis, inflamation and serun lipid and lipoproteins in postmenopausal women. Thromb Haemost. 2001;85:619-25.
93. Marque V, Alhenc-Gelas M, Plu-Bureau G, Oger E, Scarabin PY. The effects of transdermal and oral estrogen/progesterone regimens on Free and Total Protein S in postmenopausal women. Thromb- Haemost. 2001;86:713-4.
94. Pabinger I, Schneider B. Thrombotic risk in hereditary Antithrombin III, Protein C, or Protein S deficiency. Arterioscler Thromb Vasc Biol. 1996;16:742-8.
95. 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;362:523-6.
96. Anderson FA, Spencer FA. Risk factor for venous thromboembolism. Circulation. 2003;107:9-16.
97. Stefano V, Rossi E, Paciaroni K, Leone G. Screening for inherited thrombophilia: indications and therapeutic implications. Haematologica. 2002;87:1095-108.
98. Lecumberri R, Gutiérrez R, Rocha E. Trombofilia: resultados en los pacientes del registro RIETE. Haematologica. 2004;89:229-32.
99. Vossen CY, Conard J, Fontcuberta J, et al. Risk of first venous thrombotic event in carriers of a familial thrombophilic defect. The European Prospective Cohort on Thrombophilia (EPCOT). J Thromb Haemost. 2005;3:459.
100. Pabinger I, Vormittag R. Thrombophilia and complications of pregnancy. Hematology. 2005;1:231-4.
101. Rosendaal FR. Venous thrombosis: a multicausal disease. Lancet. 1999;353:1167-73
102. Heit JA. Risk factors for venous thromboembolism. Clin Chest Med. 2003;24:1-12.