medigraphic.com
ISSN 2500-7106 (Digital)
ISSN 0123-2576 (Impreso)
Medicina & Laboratorio

2020, Número 4

<< Anterior Siguiente >>

Medicina & Laboratorio 2020; 24 (4)


Hemofilia B o enfermedad de Christmas

Acosta-Aragón MA, Álvarez-Mina AR, Velásquez-Paz JC, Vizcaíno-Carruyo JC

Idioma: Español
Referencias bibliográficas: 68
Paginas: 273-289
Archivo PDF: 860.30 Kb.


RESUMEN

La hemofilia B o enfermedad de Christmas se diferenció por primera vez de la hemofilia A en 1947. Su forma clásica consiste en un trastorno hereditario de la coagulación causado por mutaciones en el gen F9, que codifica para el factor IX de la coagulación. Su herencia está ligada al cromosoma X; las mujeres son portadoras, pero se manifiesta clínicamente en hombres, aunque se han descrito casos de mujeres portadoras sintomáticas. El factor IX activado es una proteína dependiente de vitamina K, sintetizada en el hígado, que forma parte del complejo tenasa, cuya función es formar la mayor cantidad de trombina en el nuevo modelo de la coagulación basado en células. De acuerdo a la actividad del factor IX, su deficiencia se puede clasificar en leve (5% a 40%), moderada (1% a 5%), o severa (‹1%). Su diagnóstico se realiza con la presencia de un TPT alargado que corrige con plasma normal y con la determinación del nivel funcional del factor IX, y se confirma con el estudio molecular que demuestra la mutación en el gen F9. Su diagnóstico diferencial incluye otras patologías como la hemofilia A. El tratamiento con factor IX recombinante es el más utilizado en la actualidad, pero se vienen desarrollando nuevas terapias con virus adeno-asociados recombinantes que prometen mejorar la calidad de vida para algunos pacientes afectados. La profilaxis juega un papel fundamental, en particular en los casos de enfermedad moderada y severa.


REFERENCIAS (EN ESTE ARTÍCULO)

  1. Shavit JA, Ginsburg D. Chapter 73. Hemophilias and other disorders of hemostasis. In: Rimoin D, Pyeritz R, Korf B, eds. Emery and Rimoin’s Principles and Practice of Medical Genetics. Oxford: Academic Press; 2013. p. 1-33. https://doi.org/https://doi.org/10.1016/B978- 0-12-383834-6.00077-X.

  2. Schulman S. Hemofilia leve. Edición revisada. In: Mahlangu J, ed. Tratamiento de la hemofilia N° 41. Montreal: Federación Mundial de Hemofilia (FMH); 2012. p. 1-13. Disponible en: http:// www1.wfh.org/publication/files/pdf-1193.pdf.

  3. Philip J, Sarkar RS, Kumar S, Prathip BR, Pathak A. Factor IX deficiency (Christmas disease). Med J Armed Forces India 2012;68:379-380. https://doi.org/10.1016/j.mjafi.2011.12.007.

  4. Goodeve AC. Hemophilia B: molecular pathogenesis and mutation analysis. J Thromb Haemost 2015;13:1184-1195. https://doi. org/10.1111/jth.12958.

  5. García-Chávez J, Majluf-Cruz A. Hemofilia. Gac Med Mex 2013;149:308-321.

  6. Kasper CK, Lin JC. Prevalence of sporadic and familial haemophilia. Haemophilia 2007;13:90-92. https://doi.org/10.1111/j.1365- 2516.2006.01397.x.

  7. Franchini M, Castaman G, Coppola A, Santoro C, Zanon E, Di Minno G, et al. Acquired inhibitors of clotting factors: AICE recommendations for diagnosis and management. Blood Transfus 2015;13:498-513. https://doi. org/10.2450/2015.0141-15.

  8. Shetty S, Ghosh K, Mohanty D. Hemophilia B in a female. Acta Haematol 2001;106:115-117. https://doi.org/10.1159/000046599.

  9. Staber J, Croteau SE, Davis J, Grabowski EF, Kouides P, Sidonio RF. The spectrum of bleeding in women and girls with haemophilia B. Haemophilia 2018;24:180-185. https://doi. org/10.1111/hae.13376.

  10. García-Candel F. Estudio descriptivo mutacional de pacientes hemofílicos en la región de Murcia. Thesis. Medicina Interna, PhD. Murcia, España: Universidad de Murcia; 2013. p. 139.

  11. Cugno M, Tedeschi A. Chapter 59. Coagulation factor autoantibodies. In: Shoenfeld Y, Meroni PL, Gershwin ME, eds. Autoantibodies. 3th ed. San Diego: Elsevier; 2014. p. 499-509. https://doi. org/10.1016/B978-0-444-56378-1.00059-9.

  12. Monahan P, Velander W, Bajaj P. Chapter 640. Coagulation factor IXa. In: Barret A, Woessner F, Rawlings N, eds. Handbook of Proteolytic Enzymes. 3th ed. San Diego: Academic Press; 2013. p. 2898-2905. https://doi.org/10.1016/B978-0- 12-382219-2.00640-2.

  13. Brummel-Ziedins KE, Orfeo T, Everse SJ, Mann KG. Blood coagulation and fibrinolysis. In: Greer JP, Arber DA, Glader BE, List AF, Means RM, Rodgers GM, eds. Wintrobe’s Clinical Hematology. 14th ed. Philadelphia: Wolters Kluwer; 2019. p. 1466-1472.

  14. Motlagh H, Pezeshkpoor B, Dorgalaleh A. Hemophilia B. In: Dorgalaleh A, ed. Congenital Bleeding Disorders. Cham, Suiza: Springer; 2018. p. 139-160.

  15. Pruthi RK, Kluge ML, Ashrani AA. Coagulation disorders. In: Leonard DG, ed. Molecular Pathology in Clinical Practice. 2nd ed. Cham, Suiza: Springer; 2016. p. 203-223.

  16. Escobar MA, Key NS. Chapter 123: Hemophilia A and hemophilia B. In: Kaushansky K, Prchal JT, Press OW, Lichtman MA, Levi M, Burns LJ, eds. Williams Hematology. 9th ed. New York: Mc- Graw-Hill Education; 2015. p. 2126-2132.

  17. Versteeg HH, Heemskerk JW, Levi M, Reitsma PH. New fundamentals in hemostasis. Physiol Rev 2013;93:327-358. https://doi.org/10.1152/ physrev.00016.2011.

  18. Winter WE, Flax SD, Harris NS. Coagulation testing in the core laboratory. Lab Med 2017;48:295-313. https://doi.org/10.1093/labmed/ lmx050.

  19. Bermeo SM, Silva CT, Fonseca DJ, Restrepo CM. Hemofilia: diagnóstico molecular y alternativas de tratamiento. Colomb Medica 2007;38:308-315.

  20. Lv X, Li T, Li H, Liu H, Wang Z, Guo ZP. Genetic analysis of a hemophilia B family with a novel F9 gene mutation: A STROBE-compliant article. Medicine 2019;98:e15688. https://doi. org/10.1097/MD.0000000000015688.

  21. Bowen DJ. Haemophilia A and haemophilia B: molecular insights. Mol Pathol 2002;55:1-18. https://doi.org/10.1136/mp.55.1.1.

  22. Gomez K, Chowdary P. Chapter 13. Hemophilia B: molecular basis. In: Lee C BE, Hoots W,, ed. Textbook of Hemophilia. New Jersey: Wiley-Blackwell; 2014. p. 97-102.

  23. Smith SA. The cell-based model of coagulation. J Vet Emerg Crit Care 2009;19:3-10. https:// doi.org/10.1111/j.1476-4431.2009.00389.x.

  24. Palta S, Saroa R, Palta A. Overview of the coagulation system. Indian J Anaesth 2014;58:515-523. https://doi.org/10.4103/0019-5049.144643.

  25. McMichael M. New models of hemostasis. Top Companion Anim Med 2012;27:40-45. https:// doi.org/10.1053/j.tcam.2012.07.005.

  26. Pérez-Gómez F, Bover R. La nueva cascada de la coagulación y su posible influencia en el difícil equilibrio entre trombosis y hemorragia. Rev Esp Cardiol 2007;60:1217-1219. https://doi. org/10.1157/13113924.

  27. Srivastava A, Brewer AK, Mauser-Bunschoten EP, Key NS, Kitchen S, Llinas A, et al. Guidelines for the management of hemophilia. Haemophilia 2013;19:e1-e47. https://doi. org/10.1111/j.1365-2516.2012.02909.x.

  28. Rodgers GM. Chapter 54. Inherited coagulation disorders. In: Greer JP, Arber DA, Glader BE, List AF, Means RM, Rodgers GM, eds. Wintrobe’s Clinical Hematology. 14th ed. Philadelphia: Wolters Kluwer; 2019. p. 3653-3676.

  29. Berges-García A, González-Ávila AI, Martínez- Murillo C, Gacía-Chávez J, Vélez-Ruela MA, Pompa-Garza MT, et al. Diagnóstico y tratamiento de hemofilia pediátrica. México: Secretaría de Salud; 2009. 1-52. 2012. Acceso 17 de noviembre de 2018. Disponible en http:// www.cenetec.salud.gob.mx/descargas/gpc/ CatalogoMaestro/141_GPC_HEMOFILIA_PEDIATRICA/ Imss_ER.pdf.

  30. Fijnvandraat K, Cnossen MH, Leebeek FWG, Peters M. Diagnosis and management of haemophilia. BMJ Brit Med J 2012;344:36-40. https://doi.org/10.1136/bmj.e2707.

  31. Blanchette VS, Key NS, Ljung LR, Manco-Johnson MJ, van den Berg HM, Srivastava A, et al. Definitions in hemophilia: communication from the SSC of the ISTH. J Thromb Haemost 2014;12:1935-1939. https://doi.org/10.1111/ jth.12672.

  32. Clausen N, Petrini P, Claeyssens-Donadel S, Gouw SC, Liesner R, PedNet and Research of Determinants of Inhibitor development Study Group. Similar bleeding phenotype in young children with haemophilia A or B: a cohort study. Haemophilia 2014;20:747-755. https://doi.org/10.1111/hae.12470.

  33. Mazepa MA, Monahan PE, Baker JR, Riske BK, Soucie JM, U. S. Hemophilia Treatment Center Network. Men with severe hemophilia in the United States: birth cohort analysis of a large national database. Blood 2016;127:3073-3081. https:// doi.org/10.1182/blood-2015-10-675140.

  34. Kruse-Jarres R, Kempton CL, Baudo F, Collins PW, Knoebl P, Leissinger CA, et al. Acquired hemophilia A: Updated review of evidence and treatment guidance. Am J Hematol 2017;92:695- 705. https://doi.org/10.1002/ajh.24777.

  35. Jedidi I, Hdiji S, Ajmi N, Makni F, Masmoudi S, Elloumi M, et al. [Acquired haemophilia B: a case report and literature review]. Ann Biol Clin (Paris) 2011;69:685-688. https://doi.org/10.1684/ abc.2011.0638.

  36. Tamagond SB, Hugar SI, Patil A, Huddar S. Christmas disease: diagnosis and management of a haemorrhagic diathesis following dentofacial trauma. BMJ case reports 2015;2015:bcr2014203790. https://doi. org/10.1136/bcr-2014-203790.

  37. Hayward CP. How I investigate for bleeding disorders. Int J Lab Hematol 2018;40 Suppl 1:6-14. https://doi.org/10.1111/ijlh.12822.

  38. van Rossum AP, Vlasveld LT, van den Hoven LJ, de Wit CW, Castel A. False prolongation of the activated partial thromboplastin time (aPTT) in inflammatory patients: interference of C-reactive protein. Br J Haematol 2012;157:394-395. https:// doi.org/10.1111/j.1365-2141.2011.08990.x.

  39. Park CH, Seo JY, Kim HJ, Jang JH, Kim SH. A diagnostic challenge: mild hemophilia B with normal activated partial thromboplastin time. Blood Coagul Fibrinolysis 2010;21:368-371. https://doi. org/10.1097/MBC.0b013e3283367946.

  40. De Loughery TG. Tests of hemostasis and thrombosis. In: De Loughery TG, ed. Hemostasis and Thrombosis. 3rd ed. Cham, Suiza: Springer; 2015. p. 9-14.

  41. van Herrewegen F, Meijers JC, Peters M, van Ommen CH. Clinical practice: the bleeding child. Part II: disorders of secondary hemostasis and fibrinolysis. Eur J Pediatr 2012;171:207-214. https://doi.org/10.1007/s00431-011-1571-x.

  42. Leebeek FWG, Eikenboom JCJ. von Willebrand’s disease. N Engl J Med 2016;375:2067-2080. https://doi.org/10.1056/ NEJMra1601561.

  43. Campuzano-Maya G. PFA-100: una nueva prueba de función plaquetaria sustituta del tiempo de sangría. Med & Lab 2013;19:511-548.

  44. Rivillas-Rigol L, Vizcaíno-Carruyo JC, Tangarife- Castaño VJ, Campuzano-Zuluaga G, Toro- Montoya AI. Pruebas de función plaquetaria por el sistema PFA-200. Med Lab 2020;24:162-164. https://doi.org/10.36384/01232576.215.

  45. van Galen KPM, Mauser-Bunschoten EP, Leebeek FWG. Hemophilic arthropathy in patients with von Willebrand disease. Blood Rev 2012;26:261-266. https://doi.org/https://doi. org/10.1016/j.blre.2012.09.002.

  46. Rodgers GM. von Willebrand disease-clinical manifestations. In: Greer JP, Arber DA, Glader BE, List AF, Means RM, Rodgers GM, eds. Wintrobe’s Clinical Hematology. Philadelphia: Wolters Kluwe; 2019. p. 3676-3688.

  47. Marlar RA, Strandberg K, Shima M, Adcock DM. Clinical utility and impact of the use of the chromogenic vs one-stage factor activity assays in haemophilia A and B. Eur J Haematol 2020;104:3- 14. https://doi.org/10.1111/ejh.13339.

  48. Peyvandi F, Oldenburg J, Friedman KD. A critical appraisal of one-stage and chromogenic assays of factor VIII activity. J Thromb Haemost 2016;14:248-261. https://doi.org/10.1111/ jth.13215.

  49. Liebman HA, Rosenwald-Zuckerman T, Retzios A, Yasmin S, Kasper CK. Kinetics of factor IX activity differ from that of factor IX antigen in patients with haemophilia B receiving high-purity factor IX replacement. Haemophilia 1999;5:174-180. https://doi.org/10.1046/j.1365- 2516.1999.00305.x.

  50. Pal S, Curley A, Stanworth SJ. Interpretation of clotting tests in the neonate. Arch Dis Child Fetal Neonatal Ed 2015;100:F270-274. https:// doi.org/10.1136/archdischild-2014-306196.

  51. Pichler E, Pichler L. The neonatal coagulation system and the vitamin K deficiency bleeding: a mini review. Wien Med Wochenschr 2008;158:385-395. https://doi.org/10.1007/ s10354-008-0538-7.

  52. Nogami K. The utility of thromboelastography in inherited and acquired bleeding disorders. Br J Haematol 2016;174:503-514. https://doi. org/10.1111/bjh.14148.

  53. Peyvandi F, Kunicki T, Lillicrap D. Genetic sequence analysis of inherited bleeding diseases. Blood 2013;122:3423-3431. https://doi. org/10.1182/blood-2013-05-505511.

  54. Morfini M, Coppola A, Franchini M, Di Minno G. Clinical use of factor VIII and factor IX concentrates. Blood Transfus 2013;11(Suppl 4):s55-s63. https://doi.org/10.2450/2013.010s.

  55. Cancio MI, Reiss UM, Nathwani AC, Davidoff AM, Gray JT. Developments in the treatment of hemophilia B: focus on emerging gene therapy. Appl Clin Genet 2013;6:91-101. https://doi. org/10.2147/TACG.S31928.

  56. George LA, Sullivan SK, Giermasz A, Rasko JE, Samelson-Jones BJ, Ducore J, et al. Hemophilia B gene therapy with a high-specificactivity factor IX variant. New Engl J of Med 2017;377:2215-2227. https://doi.org/10.1056/ NEJMoa1708538.

  57. VandenDriessche T, Chuah MK. Hemophilia gene therapy: ready for prime time? Hum Gene Ther 2017;28:1013-1023. https://doi. org/10.1089/hum.2017.116.

  58. Dolan G, Benson G, Duffy A, Hermans C, Jiménez- Yuste V, Lambert T, et al. Haemophilia B: Where are we now and what does the future hold? Blood Rev 2018;32:52-60. https://doi. org/10.1016/j.blre.2017.08.007.

  59. Wu YM, Huang YJ, Chen P, Hsu YC, Lin SW, Lai HS, et al. Hepatocyte-like cells derived from mouse induced pluripotent stem cells produce functional coagulation factor IX in a hemophilia B mouse model. Cell Transplant 2016;25:1237-1246. https://doi. org/10.3727/096368915x689541.

  60. Santoro C, Quintavalle G, Castaman G, Baldacci E, Ferretti A, Riccardi F, et al. Inhibitors in Hemophilia B. Semin Thromb Hemost 2018;44:578- 589. https://doi.org/10.1055/s-0038-1660817.

  61. Kasper CK. Diagnóstico y tratamiento de inhibidores de los factores VIII y IX. Discusión introductoria para médicos. In: Sam S, ed. Montreal, Canadá: Federación Mundial de Hemofilia; 2004. p. 1-13. Disponible en: http://www1.wfh.org/publications/ files/pdf-1179.pdf.

  62. Tandra A, Shapiro AD. Treatment of inhibitors in hemophilia B. In: Lee CA, Berntorp EE, Hoots WK, eds. Textbook of Hemophilia. 3rd ed. New Jersey: Wiley-Blackwell; 2014. p. 107-113. https://doi.org/10.1002/9781118398258.ch15.

  63. Chitlur MB, Lusher JM. Chapter 14. Factor IX inhibitors in hemophilia B. In: Lee C, Berntorp E, Hoots W, eds. Textbook of Hemophilia. 3rd ed. New Jersey: Wiley-Blackwell; 2014. p. 103-106.

  64. Moreno MM, Cuesta-Barriuso R. A history of prophylaxis in haemophilia. Blood Coagul Fibrinolysis 2019;30:55-57. https://doi.org/10.1097/ MBC.0000000000000783.

  65. Makris M. Prophylaxis in haemophilia should be life-long. Blood Transfus 2012;10:165-168. https://doi.org/10.2450/2012.0147-11.

  66. Thornburg CD, Duncan NA. Treatment adherence in hemophilia. Patient Prefer Adherence 2017;11:1677-1686. https://doi.org/10.2147/ PPA.S139851.

  67. Darby SC, Kan SW, Spooner RJ, Giangrande PLF, Hill FGH, Hay CRM, et al. Mortality rates, life expectancy, and causes of death in people with hemophilia A or B in the United Kingdom who were not infected with HIV. Blood 2007;110:815-825. https://doi.org/10.1182/ blood-2006-10-050435.

  68. Benson G, Auerswald G, Dolan G, Duffy A, Hermans C, Ljung R, et al. Diagnosis and care of patients with mild haemophilia: practical recommendations for clinical management. Blood Transfus 2018;16:535-544. https://doi. org/10.2450/2017.0150-17.




2020     |     www.medigraphic.com