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2007, Número 4

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Gac Med Mex 2007; 143 (4)


Trombofilia primaria en México. Parte VI: Falta de asociación estadística entre las condiciones trombofílicas heredadas

Ruiz-Argüelles GJ, González-Carrillo ML, Estrada-Gómez R, Valdés-Tapia P, Parra-Ortega I, Porras-Juárez A

Idioma: Español
Referencias bibliográficas: 62
Paginas: 317-322
Archivo PDF: 57.42 Kb.


RESUMEN

Objetivo: En un periodo de 70 meses estudiamos de manera prospectiva a 100 pacientes mestizos mexicanos con algún marcador clínico de trombofilia: a) Trombosis antes de los 40 años, b) Historia familiar de trombosis, c) Trombosis recurrente sin la presencia de un factor precipitante aparente, d) Trombosis en sitios anatómicos inusuales, o e) Resistencia a la terapia antitrombótica convencional.
Métodos: En estos pacientes, investigamos el síndrome de las plaquetas pegajosas, la mutación 677 C —›T del gen de la 5,10-metilentetrahidrofolato reductasa (MTHFR), el fenotipo de resistencia a la proteína C activada (RPCa), la presencia de anticuerpos antifosfolípidos, las mutaciones Leiden, Cambridge, Liverpool y Hong Kong del gen del factor V, el haplotipo HR2 del mismo gen del factor V, el polimorfismo G20210A de la región 3´-no traducida del gen de la protrombina y las deficiencias de proteínas C y S y de antitrombina III.
Resultados: En el 94 % de los casos encontramos por lo menos alguna alteración; de estos casos con alteración, la mayoría (81 %) tuvo dos o más condiciones trombofílicas asociadas. El análisis multivariado de todas estas variables sólo mostró asociación estadística entre la mutación tipo Leiden del gen del factor V y el fenotipo de RPCa (r = .495; p ‹ 0.001).
Conclusiones: Se concluye que, realizando este grupo de estudios, es posible identificar alguna alteración trombofílica en la mayoría de los pacientes mestizos mexicanos con algún marcador clínico de trombofilia y que las alteraciones no se asocian entre sí.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Ruiz-Argüelles GJ. Trombofilia. En Ruiz-Argüelles GJ. Editor: Fundamentos de Hematología, 3a. ed. Editorial Médica Panamericana. México City, 2003. pp. 424-436.

  2. Ruiz-Argüelles GJ, González-Estrada S, Garcés-Eisele J, Ruiz-Argüelles A. Primary thrombophilia in México: A prospective study. Am J Hematol 1999;60:1-5.

  3. Ruiz-Argüelles GJ, Garcés-Eisele J, Reyes-Núñez V, Ramírez-Cisneros F. Primary thrombophilia in México II: Factor V G1691A (Leiden), prothrombin G20210A and methylenetetrahydrofolate reductase C677T polymorphism in thrombophilic Mexican mestizos. Am J Hematol 2001, 66:28-31.

  4. Ruiz-Argüelles GJ, López-Martínez B, Cruz-Cruz D, Reyes-Aulis MB. Primary thrombophilia in México III. A prospective study of the sticky platelet syndrome. Clin Appl Thromb Hemost 2002, 8:273-277.

  5. Ruiz-Argüelles GJ, Poblete-Naredo I, Reyes-Núñez V, Garcés-Eisele J, López-Martínez B, Gómez-Rangel D. Primary thrombophilia in México IV: Leiden, Cambridge, Hong Kong, Liverpool and HR2 haplotype polymorphisms in the factor V gene of a group of thrombophilic Mexican Mestizos. Rev Invest Clín Méx 2004;56:600-604.

  6. Ruiz-Argüelles GJ, López-Martínez B, Valdés-Tapia P, Gómez-Rangel JD, Reyes-Núñez V, Garcés-Eisele J. Primary thrombophilia in México V: A comprehensive prospective study indicates that most cases are multifactorial. Am J Hematol 2005;78:21-26.

  7. Mannucci PM. The measurement of multifactorial thrombophilia. Thromb Haemost 2002;88:1-2.

  8. Emmerich J, Aiach M. Genetic risk factors of thrombosis. Ann Cardiol Angeiol (Paris) 2002;51:129-134.

  9. Reitsma PH. Genetic heterogeneity in hereditary thrombophilia. Haemostasis 2002;30 (Suppl 2):1-10.

  10. Cumming AM, Shiach CR. The investigation and management of inherited thrombophilia. Clin Lab Haematol 1999;21:77-92.

  11. Pons-Estel BA, Catoggio LJ, Cardiel MH, Soriano ER, Gentiletti S, Villa AR, et al. The GLADEL multinational Latin American prospective inception cohort of 1214 patients with systemic lupus erythematosus. Ethnic and disease heterogeneity among “Hispanics”. Medicine 2004;83: 1-17.

  12. Mammen EF. Ten years experience with the “Sticky platelet syndrome”. Clin Appl Thromb Hemost 1995;1:66-72.

  13. Born GVR, Cross MJ. The aggregation of blood platelets. J Physiol 1963;168:178-183.

  14. Zöller B, Dahlbäck B. Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis. Lancet 1994;343:1536-1538.

  15. Lunghi B, Castoldi E, Mingozzi F, Bernardi F. 1998. A new factor V gene polymorphism (His 1254 Arg.present in subjects of african origin mimics the R2 polymorphism (His 1299 Arg). Blood 1998;91:364-365.

  16. van Wijk R, Nieuwnhuis K, van der Berg M, Huizinga EG, van der Meijden BB, et al. Five novel mutations in the gene for the human blood coagulation factor V associated with Tipo I factor V deficiency. Blood 2001;98:358-367.

  17. Chan WP, Lee CK, Kwong YL, Lam CK, Liang R. A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. Blood 1998;91: 1135-1139.

  18. Mumford AD, McVey JH, Morse CV, Gómez K, Steen M, Norstrom EA, et al. Factor V I359T: A novel mutation associated with thrombosis and resistance to activated protein C. Br J Haematol 2003;123:496-501.

  19. Kluijtmans LAJ, van den Heuvel LPWJ, Boers GHJ, Frosst P, Stevens EMB, van Oost BA, et al. Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylentetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet 1996;58:35-41.

  20. 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.

  21. Abdi, H. Multivariate analysis. En Lewis-Beck M, Bryman A, Futing T (editores): Encyclopedia for research methods for the social sciences. Thousand Oaks, CA, 2003. SAGE. pp. 699-702.

  22. Ruiz-Argüelles GJ, Ruiz-Delgado GJ. López-Martínez B. El «síndrome de las plaquetas pegajosas»: Una causa frecuente pero ignorada de trombofilia. Rev Invest Clín Méx 2002;54:394-396.

  23. Schafer AI. Inherited and acquired causes of trombosis. In Schafer AI, Levine MN, Konkle BA, Kearon C.: Thrombotic disorders: Diagnosis and treatment. Education Program Book. American Society of Hematology. San Diego CA, 2003. pp. 520-522.

  24. Hernández-Hernández DS, Villa R, Murillo-Bonilla LM, Cantú-Brito C, Arauz-Góngora A, López-Gómez M, et al. Hiperagregabilidad plaquetaria y síndrome de las plaquetas pegajosas en eventos cerebrales vasculares en jóvenes. Rev Hematol 2002;3:19.

  25. Ruiz-Argüelles GJ, Poblete-Naredo I, Reyes-Núñez V, Garcés-Eisele J, López-Martínez B, Gómez-Rangel D. Primary thrombophilia in México IV: Thrombophilic mutations in the factor V gene in Mexican mestizos. Rev Invest Clín Méx 2004;56:600-604.

  26. Buchholz T, Thaler CJ. Inherited thrombophilia: impact on human reproduction. Am J Reprod Immunol 2006;50: 20-32.

  27. Buchanan GS, Rodgers GM, Ware Branch D. The inherited thrombophilias: genetics, epidemiology, and laboratory evaluation. Best Pract Res Clin Obstet Gynaecol 2003;17):397-411.

  28. Perry SL, Ortel TL. Clinical and laboratory evaluation of thrombophilia. Clin Chest Med 2003;24:153-170.

  29. De Stefano V, Rossi E, Paciaroni K, Leone G. Screening for inherited thrombophilia: indications and therapeutic implications. Haematologica 2002;87:1095-1108.

  30. Thomas RH. Hypercoagulability syndromes. Arch Intern Med 2001;161:2433-2439.

  31. Sykes TC, Fegan C, Mosquera D. Thrombophilia, polymorphisms, and vascular disease. Mol Pathol 2000;53:300-306.

  32. Ruiz-Argüelles GJ. Trombofilia. En Ruiz-Argüelles GJ. Editor: Fundamentos de Hematología, 3a. ed. Editorial Médica Panamericana. México City, 2003. pp. 424-436.

  33. Ruiz-Argüelles GJ, González-Estrada S, Garcés-Eisele J, Ruiz-Argüelles A. Primary thrombophilia in México: A prospective study. Am J Hematol 1999;60:1-5.

  34. Ruiz-Argüelles GJ, Garcés-Eisele J, Reyes-Núñez V, Ramírez-Cisneros F. Primary thrombophilia in México II: Factor V G1691A (Leiden), prothrombin G20210A and methylenetetrahydrofolate reductase C677T polymorphism in thrombophilic Mexican mestizos. Am J Hematol 2001, 66:28-31.

  35. Ruiz-Argüelles GJ, López-Martínez B, Cruz-Cruz D, Reyes-Aulis MB. Primary thrombophilia in México III. A prospective study of the sticky platelet syndrome. Clin Appl Thromb Hemost 2002, 8:273-277.

  36. Ruiz-Argüelles GJ, Poblete-Naredo I, Reyes-Núñez V, Garcés-Eisele J, López-Martínez B, Gómez-Rangel D. Primary thrombophilia in México IV: Leiden, Cambridge, Hong Kong, Liverpool and HR2 haplotype polymorphisms in the factor V gene of a group of thrombophilic Mexican Mestizos. Rev Invest Clín Méx 2004;56:600-604.

  37. Ruiz-Argüelles GJ, López-Martínez B, Valdés-Tapia P, Gómez-Rangel JD, Reyes-Núñez V, Garcés-Eisele J. Primary thrombophilia in México V: A comprehensive prospective study indicates that most cases are multifactorial. Am J Hematol 2005;78:21-26.

  38. Mannucci PM. The measurement of multifactorial thrombophilia. Thromb Haemost 2002;88:1-2.

  39. Emmerich J, Aiach M. Genetic risk factors of thrombosis. Ann Cardiol Angeiol (Paris) 2002;51:129-134.

  40. Reitsma PH. Genetic heterogeneity in hereditary thrombophilia. Haemostasis 2002;30 (Suppl 2):1-10.

  41. Cumming AM, Shiach CR. The investigation and management of inherited thrombophilia. Clin Lab Haematol 1999;21:77-92.

  42. Pons-Estel BA, Catoggio LJ, Cardiel MH, Soriano ER, Gentiletti S, Villa AR, et al. The GLADEL multinational Latin American prospective inception cohort of 1214 patients with systemic lupus erythematosus. Ethnic and disease heterogeneity among “Hispanics”. Medicine 2004;83: 1-17.

  43. Mammen EF. Ten years experience with the “Sticky platelet syndrome”. Clin Appl Thromb Hemost 1995;1:66-72.

  44. Born GVR, Cross MJ. The aggregation of blood platelets. J Physiol 1963;168:178-183.

  45. Zöller B, Dahlbäck B. Linkage between inherited resistance to activated protein C and factor V gene mutation in venous thrombosis. Lancet 1994;343:1536-1538.

  46. Lunghi B, Castoldi E, Mingozzi F, Bernardi F. 1998. A new factor V gene polymorphism (His 1254 Arg.present in subjects of african origin mimics the R2 polymorphism (His 1299 Arg). Blood 1998;91:364-365.

  47. van Wijk R, Nieuwnhuis K, van der Berg M, Huizinga EG, van der Meijden BB, et al. Five novel mutations in the gene for the human blood coagulation factor V associated with Tipo I factor V deficiency. Blood 2001;98:358-367.

  48. Chan WP, Lee CK, Kwong YL, Lam CK, Liang R. A novel mutation of Arg306 of factor V gene in Hong Kong Chinese. Blood 1998;91: 1135-1139.

  49. Mumford AD, McVey JH, Morse CV, Gómez K, Steen M, Norstrom EA, et al. Factor V I359T: A novel mutation associated with thrombosis and resistance to activated protein C. Br J Haematol 2003;123:496-501.

  50. Kluijtmans LAJ, van den Heuvel LPWJ, Boers GHJ, Frosst P, Stevens EMB, van Oost BA, et al. Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylentetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet 1996;58:35-41.

  51. 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.

  52. Abdi, H. Multivariate analysis. En Lewis-Beck M, Bryman A, Futing T (editores): Encyclopedia for research methods for the social sciences. Thousand Oaks, CA, 2003. SAGE. pp. 699-702.

  53. Ruiz-Argüelles GJ, Ruiz-Delgado GJ. López-Martínez B. El «síndrome de las plaquetas pegajosas»: Una causa frecuente pero ignorada de trombofilia. Rev Invest Clín Méx 2002;54:394-396.

  54. Schafer AI. Inherited and acquired causes of trombosis. In Schafer AI, Levine MN, Konkle BA, Kearon C.: Thrombotic disorders: Diagnosis and treatment. Education Program Book. American Society of Hematology. San Diego CA, 2003. pp. 520-522.

  55. Hernández-Hernández DS, Villa R, Murillo-Bonilla LM, Cantú-Brito C, Arauz-Góngora A, López-Gómez M, et al. Hiperagregabilidad plaquetaria y síndrome de las plaquetas pegajosas en eventos cerebrales vasculares en jóvenes. Rev Hematol 2002;3:19.

  56. Ruiz-Argüelles GJ, Poblete-Naredo I, Reyes-Núñez V, Garcés-Eisele J, López-Martínez B, Gómez-Rangel D. Primary thrombophilia in México IV: Thrombophilic mutations in the factor V gene in Mexican mestizos. Rev Invest Clín Méx 2004;56:600-604.

  57. Buchholz T, Thaler CJ. Inherited thrombophilia: impact on human reproduction. Am J Reprod Immunol 2006;50: 20-32.

  58. Buchanan GS, Rodgers GM, Ware Branch D. The inherited thrombophilias: genetics, epidemiology, and laboratory evaluation. Best Pract Res Clin Obstet Gynaecol 2003;17):397-411.

  59. Perry SL, Ortel TL. Clinical and laboratory evaluation of thrombophilia. Clin Chest Med 2003;24:153-170.

  60. De Stefano V, Rossi E, Paciaroni K, Leone G. Screening for inherited thrombophilia: indications and therapeutic implications. Haematologica 2002;87:1095-1108.

  61. Thomas RH. Hypercoagulability syndromes. Arch Intern Med 2001;161:2433-2439.

  62. Sykes TC, Fegan C, Mosquera D. Thrombophilia, polymorphisms, and vascular disease. Mol Pathol 2000;53:300-306.




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