Hemophilia in the emergency department
Hemofilia en urgencias
Show authors biography
Introduction: hemophilia is an inherited bleeding disorder in which the blood does not clot properly due to low levels of clotting factors VIII or IX, which can cause spontaneous bleeding. The severity of hemophilia is determined by the amount of factor in the blood. Objective: to identify the main sites of spontaneous bleeding and its complications, which is fundamental for care, prevention, and prognosis in these patients. Methods: a literature search performed in the Pubmed, Access Medina, ClinicalKey and Science Direct databases, between August 23, 2021, and January 2023. Discussion: we describe the complications and main characteristics of hemophilia affected individuals, the clinical manifestations related to hemorrhagic events, and that severity correlates with the blood level of clotting factors, as reported in the literature. Conclusions: both hemophilia A and B are associated with spontaneous bleeding or bleeding following injuries or surgery. Clinical presentations vary depending on the involved systems. Adequate factor replacement therapy helps prevent bleeding episodes and the development of complications.
Article visits 498 | PDF visits 389
Downloads
- 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 DOI: https://doi.org/10.1055/a-1665-6232
- 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
- 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 DOI: https://doi.org/10.1016/j.blre.2021.100907
- 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 DOI: https://doi.org/10.21037/atm-21-747
- Mannucci PM. Hemophilia therapy: the future has begun. Haematologica. 2020;105(3):545-53. doi: 10.3324/haematol.2019.232132. DOI: https://doi.org/10.3324/haematol.2019.232132
- 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 DOI: https://doi.org/10.1111/jth.15397
- Kloosterman F, Zwagemaker AF, Abdi A, Gouw S, Castaman G, Fijnvandraat K. Hemophilia management: Huge impact of a tiny difference. Res Pract Thromb Haemost. 2020;4(3):377-385. http://dx.doi.org/10.1002/rth2.12314 DOI: https://doi.org/10.1002/rth2.12314
- 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
- European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation. Factor IX (F9) Variant Database [Internet]. EAHAD; 2022 [citado 16 enero de 2022]. Disponible: https://f9-db.eahad.org/
- 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
- 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
- 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):87-94. http://dx.doi.org/10.1111/hae.13506 DOI: https://doi.org/10.1111/hae.13506
- 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. DOI: https://doi.org/10.7326/M19-1208
- 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 DOI: https://doi.org/10.1016/j.hoc.2022.03.009
- 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 DOI: https://doi.org/10.1016/j.hoc.2021.07.008
- 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 DOI: https://doi.org/10.1016/j.xocr.2021.100278
- 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 DOI: https://doi.org/10.1016/j.jfma.2021.07.017
- 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 DOI: https://doi.org/10.1111/hae.14186
- 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 DOI: https://doi.org/10.1016/j.hoc.2021.07.008
- 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 DOI: https://doi.org/10.1016/j.hoc.2021.07.006
- 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 DOI: https://doi.org/10.1016/j.blre.2020.100737
- 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 DOI: https://doi.org/10.1016/j.blre.2021.100912
- 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 DOI: https://doi.org/10.1016/j.emc.2021.04.007
- 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 DOI: https://doi.org/10.1016/j.thromres.2022.11.015
- 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. DOI: https://doi.org/10.1111/j.1365-2257.1988.tb01174.x
- 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
- 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 DOI: https://doi.org/10.1016/j.rpth.2022.100007
- 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 DOI: https://doi.org/10.1016/j.ajem.2022.02.045
- 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 DOI: https://doi.org/10.15381/anales.v79i1.14598
- Martínez-Sánchez L, Álvarez-Hernández L, Ruiz-Mejía C, Jaramillo-Jaramillo 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 DOI: https://doi.org/10.17533/udea.rfnsp.v36n2a11
- 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 DOI: https://doi.org/10.1016/j.blre.2022.101011
- De la Corte-Rodriguez H, Rodriguez-Merchan EC, Alvarez-Roman 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 DOI: https://doi.org/10.1016/j.thromres.2022.01.010
- 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 DOI: https://doi.org/10.1016/j.blre.2021.100890
- Aquino LM, Ranche FK. Hemophilia presenting as recurrent ocular hemorrhage. GMS Ophthalmol Cases. 2020;18;10:Doc15. http://dx.doi.org/ 10.3205/oc000142
- 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
- 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/
- 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 DOI: https://doi.org/10.1016/j.crad.2022.06.022
- Batsuli G, Kouides P. Rare Coagulation Factor Deficiencies (Factors VII, X, V, and II). Hematol Oncol Clin North Am. 2021;35(6):1181-1196. http://dx.doi.org/10.1016/j.hoc.2021.07.010 DOI: https://doi.org/10.1016/j.hoc.2021.07.010
- 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 DOI: https://doi.org/10.1016/j.htct.2020.02.003
- 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 DOI: https://doi.org/10.1016/j.yapd.2022.03.009
- 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-management-in-hemophilia-a-and-b?search=tratamiento%20de%20la%20hemofilia&source=search_result&selectedTitle=1~150&usage_type=default&display_rank=1#H2996978111
- 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 DOI: https://doi.org/10.1111/hae.13331