Hemofilia en urgencias

Hemophilia in the emergency department

Introducción: la hemofilia es un trastorno hemorrágico hereditario en el cual la sangre no coagula de manera adecuada debido a niveles bajos de los factores de la coagulación VIII o IX, que pueden causar sangrados espontáneos, cuya gravedad está determinada por la cantidad del factor en la sangre. Objetivo: identificar los principales sitios de hemorragia espontánea y sus complicaciones, lo cual es clave para el cuidado, prevención y pronóstico de estos pacientes. Métodos: la búsqueda de la literatura se realizó en las bases de datos de Pubmed, Access Medina, ClinicalKey y Science Direct entre el 23 agosto 2021 y enero 2023. Discusión: se describen las complicaciones y características principales del paciente con hemofilia, las manifestaciones clínicas que se relacionan con eventos hemorrágicos, observando según la literatura la gravedad de acuerdo con la concentración de los factores. Conclusiones: tanto la hemofilia A como la B cursan con hemorragias espontáneas o causadas por lesiones o intervenciones quirúrgicas. Las presentaciones clínicas varían dependiendo de los sistemas que se vean afectados. Una adecuada terapia de reemplazo ayuda a prevenir los episodios de sangrado y el desarrollo de sus diferentes complicaciones.

1. Müller J, Miesbach W, Prüller F, Siegemund T, Scholz U, Sachs UJ; Standing Commission Labor (STAEKOLA) of the Society of Thrombosis and Haemostasis Research (GTH). An Update on Laboratory Diagnostics in Haemophilia A and B. Hamostaseologie. 2022;42(4):248-260. http://dx.doi.org/10.1055/a-1665-6232
2. 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(6):535-44. http://dx.doi.org/10.2450/2017.0150-17
3. Constantinescu C, Jitaru C, Pasca S, Dima D, Dirzu N, Coriu D, Zdziarska J, Ghiaur G, Mahlangu J, Tomuleasa C. Unexplained hemorrhagic syndrome? Consider acquired hemophilia A or B. Blood Rev. 2022;53:100907. http://dx.doi.org/10.1016/j.blre.2021.100907
4. Hotea I, Brinza M, Blag C, Zimta AA, Dirzu N, Burzo C, et al. Current therapeutic approaches in the management of hemophilia-a consensus view by the Romanian Society of Hematology. Ann Transl Med. 2021;9(13):1091. http://dx.doi.org/10.21037/atm-21-747
5. Mannucci PM. Hemophilia therapy: the future has begun. Haematologica. 2020;105(3):545-53. doi: 10.3324/haematol.2019.232132.
6. van Galen KPM, d'Oiron R, James P, Abdul-Kadir R, Kouides PA,Kulkarni R, et al. A new hemophilia carrier nomenclature to define hemophilia in women and girls: Communication from the SSC of the ISTH. J Thromb Haemost. 2021;19(8):1883-87. http://dx.doi.org/10.1111/jth.15397
7. Kloosterman F, Zwagemaker AF, Abdi A, Gouw S, Castaman G, Fijnvandraat K. Hemophilia management: Huge impact of a tinydifference. Res Pract Thromb Haemost. 2020;4(3):377-385. http://dx.doi.org/10.1002/rth2.12314
8. European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation. Factor VIII (F8) Variant Database [Internet]. Structural Immunology Group, University College London; 2013 [citado 16 enero de 2022]. Disponible en: www.factorviii-db.org
9. European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation. Factor IX (F9) Variant Database [Internet].EAHAD; 2022 [citado 16 enero de 2022]. Disponible: https://f9db.eahad.org/
10. Centers for Disease Control and Prevention. (CDC) Hemophilia A Mutation Project (CHAMP) [Internet]. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention; 2023. Disponible: http://www.cdc.gov/ncbddd/hemophilia/champs.html
11. Centers for Disease Control and Prevention (CDC) Hemophilia B Mutation Project (CHBMP) [Internet]. National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention; 2023. Disponible: http://www.cdc.gov/ncbddd/hemophilia/champs.html
12. Konkle BA, Johnsen JM, Wheeler M, Watson C, Skinner M, Pierce GF; My Life Our Future programme. Genotypes, phenotypes and whole genome sequence: Approaches from the My Life Our Future haemophilia project. Haemophilia. 2018;24 Suppl 6(Suppl 6):8794.http://dx.doi.org/10.1111/hae.13506
13. Iorio A, Stonebraker JS, Chambost H, Makris M, Coffin D, Herr C, et al; Data and Demographics Committee of the World Federation of Hemophilia. Establishing the Prevalence and Prevalence at Birth of Hemophilia in Males: A Meta-analytic Approach Using National Registries. Ann Intern Med. 2019;171(8):540-46. http://dx.doi.org/10.7326/M19-1208.
14. Croteau SE. Hemophilia A/B. Hematol Oncol Clin North Am.2022;36(4):797-812. http://dx.doi.org/10.1016/j.hoc.2022.03.009
15. Sidonio RF Jr, Malec L. Hemophilia B (Factor IX Deficiency). Hematol Oncol Clin North Am. 2021;35(6):1143-1155. http://dx.doi.org/10.1016/j.hoc.2021.07.008
16. Forrest BP, de Klerk R, Baghaie H, Perry CF. Diagnosis of previously unidentified haemophilia A in a patient following routine endoscopic sinus surgery, Otolaryngology Case Reports. 2021;19:100278. http://dx.doi.org/10.1016/j.xocr.2021.100278
17. Chen YC, Chang CY, Cheng SN, Pan RY, Shih YL, Li TY, Wang SH. Evolution of congenital haemophilia care in Taiwan. J Formos Med Assoc. 2021;3:S0929-6646(21)00348-X. http://dx.doi.org/10.1016/j.jfma.2021.07.017
18. Miller CH, Bean CJ. Genetic causes of haemophilia in women and girls. Haemophilia. 2021;27(2):e164-e179. http://dx.doi.org/10.1111/hae.14186
19. Sidonio RF Jr, Malec L. Hemophilia B (Factor IX Deficiency).Hematol Oncol Clin North Am. 2021;35(6):1143-1155. http://dx.doi.org/10.1016/j.hoc.2021.07.008
20. Seaman CD, Xavier F, Ragni MV. Hemophilia A (Factor VIII Deficiency). Hematol Oncol Clin North Am. 2021;35(6):1117-1129. http://dx.doi.org/10.1016/j.hoc.2021.07.006
21. Spadarella G, Di Minno A, Brunetti-Pierri N, Mahlangu J, Di Minno G. The evolving landscape of gene therapy for congenital haemophilia:An unprecedented, problematic but promising opportunity for worldwide clinical studies. Blood Rev. 2021;46:100737. http://dx.doi.org/10.1016/j.blre.2020.100737
22. Hodroj MH, El Hasbani G, Al-Shamsi HO, Samaha H, Musallam KM, Taher AT. Clinical burden of hemophilia in older adults:Beyond bleeding risk. Blood Rev. 2022;53:100912. http://dx.doi.org/10.1016/j.blre.2021.100912
23. Stephanos K, Dubbs SB. Pediatric Hematologic and Oncologic Emergencies. Emerg Med Clin North Am. 2021;39(3):555-571. http://dx.doi.org/10.1016/j.emc.2021.04.007
24. Pasca S, Linari S, Tagliaferri A, Santoro C, Zanon E; EMO.REC study group. Very high risk of intracranial hemorrhage and severe outcomes in adult patients with mild hemophilia: Sub-analysis of the EMO.REC Registry. Thromb Res. 2023;221:35-36. http://dx.doi.org/10.1016/j.thromres.2022.11.015
25. Roderick PJ, Robinson AC, Life-threatening oro- pharyngeal bleeding in a haemophiliac with factor VIII inhibitors. Clin Lab Haemat, 1988;10(2): 217-19. http://dx.doi.org/10.1111/j.1365-2257.1988.tb01174.x.
26. Hoots KW. Manejo de emergencia de la hemofilia. In: Textbook of Hemophilia, 3a ed, Lee CA, Berntorp EE, Hoots WK (Eds), John Wiley & Sons, Ltd; 2014. p1-11
27. Shapiro AD, Hardesty BM, Peyvandi F, Iorio A. Prevalence of selected bleeding and thrombotic events in persons with hemophilia versus the general population: A scoping review. Res Pract Thromb Haemost. 20229;7(1):100007. http://dx.doi.org/10.1016/j.rpth.2022.100007
28. Alblaihed L, Dubbs SB, Koyfman A, Long B. High risk and low prevalence diseases: Hemophilia emergencies. Am J Emerg Med.2022;56:21-27. http://dx.doi.org/10.1016/j.ajem.2022.02.045
29. Mendoza O, Loayza N, Trujillo M, Herrera C, Yanac R, Ormeño W, et al. Guía de práctica clínica para el diagnóstico y tratamiento de hemofilia en el Seguro Social de Salud del Perú (EsSalud). An Fac med. 2018;79(1):83-93.http://dx.doi.org/10.15381/anales.v79i1.14598
30. Martínez-Sánchez L, Álvarez-Hernández L, Ruiz-Mejía C, JaramilloJaramillo L, Builes-Restrepo L, Villegas-Álzate J. Hemofilia: abordaje diagnóstico y terapéutico. Revisión bibliográfica. Revista Facultad Nacional De Salud Pública. 2018;36(2):85-93. http://dx.doi.org/10.17533/udea.rfnsp.v36n2a11
31. Di Minno G, Castaman G, De Cristofaro R, Brunetti-Pierri N, Pastore L, Castaldo G, Trama U, Di Minno M. Progress, and prospects in the therapeutic armamentarium of persons with congenital hemophilia. Defining the place for liver-directed gene therapy. Blood Rev.2023;58:101011. http://dx.doi.org/10.1016/j.blre.2022.101011
32. De la Corte-Rodriguez H, Rodriguez-Merchan EC, AlvarezRoman MT, Martin-Salces M, Rivas-Pollmar I, Jimenez-Yuste V.Arthropathy in people with mild haemophilia: Exploring risk factors. Thromb Res. 2022;211:19-26. http://dx.doi.org/10.1016/j.thromres.2022.01.010
33. Hermans C, Noone D, Benson G, Dolan G, et al. Hemophilia treatment in 2021: Choosing the"optimal" treatment using an integrative, patient-oriented approach to shared decision-making between patients and clinicians. Blood Rev. 2022 Mar;52:100890.http://dx.doi.org/10.1016/j.blre.2021.100890
34. Aquino LM, Ranche FK. Hemophilia presenting as recurrent ocular hemorrhage. GMS Ophthalmol Cases. 2020;18;10:Doc15. http://dx.doi.org/ 10.3205/oc000142
35. Aquino LM, Rancher FK. Hemophilia presenting as recurrent ocular hemorrhage. GMS Ophthalmol Cases. 2020;10(15):1-5 http://dx.doi.org/10.3205/oc000142
36. Mehta P, Reddivari AKR. Hemophilia. 2022;30. In: StatPearls [Internet]. reasure Island (FL): StatPearls Publishing; 2024 Jan-.Available from: https://www.ncbi.nlm.nih.gov/books/NBK551607/
37. Ray A, Colville JG, Hartley R, Rowbotham E. The musculoskeletal manifestations of haemophilia: a review of the imaging findings. Clin Radiol. 2022;77(10):730-737. http://dx.doi.org/10.1016/j.crad.2022.06.022
38. Batsuli G, Kouides P. Rare Coagulation Factor Deficiencies (Factors VII, X, V, and II). Hematol Oncol Clin North Am. 2021;35(6):11811196. http://dx.doi.org/10.1016/j.hoc.2021.07.010
39. Santo AH. Causes of death and mortality trends related to hemophilia in Brazil, 1999 to 2016. Hematol Transfus Cell Ther. 2021;43(2):171-178. http://dx.doi.org/10.1016/j.htct.2020.02.003
40. Cho S, Perry AM, Cheng AM, Wang C, Rico JF. Advances in Hemophilia A Management. Adv Pediatr. 2022;69(1):133-147.http://dx.doi.org/10.1016/j.yapd.2022.03.009
41. W Keith Hoots A, Shapiro D, Leung L, Tirnauer J. Treatment of bleeding and perioperative management in hemophilia A and B. [Internet]. UpToDate. 2021 [citado 16 enero de 2022]. Disponible en: https://www-uptodate-com.consultaremota.upb.edu.co/contents/treatment-of-bleeding-and-perioperative-managementin-hemophilia-a-and-b?search=tratamiento%20de%20la%20hemofilia&source=search_result&selectedTitle=1~150&usage_type=default&display_rank=1#H2996978111
42. Holme PA, Tjønnfjord GE, Batorova A. Continuous infusion of coagulation factor concentrates during intensive treatment. Haemophilia 2018;24(1):24-32.http://dx.doi.org/10.1111/hae.13331