Impacto del desarrollo de inhibidores en el tratamiento y la calidad de vida de los pacientes con hemofilia: una revisión de la literatura

Autores/as

DOI:

https://doi.org/10.33448/rsd-v11i13.35638

Palabras clave:

Hemofilia; Terapia; Comorbilidades; Inhibidores.

Resumen

La hemofilia es una enfermedad hemorrágica hereditaria y uno de los principales retos de su tratamiento es el desarrollo de inhibidores. El objetivo de este trabajo fue discutir la literatura que trata de la presencia de inhibidores frente al enfoque diagnóstico, la terapia y el impacto en la calidad de vida. Se trata de un estudio de revisión compuesto por 81 artículos, en el que se utilizaron los términos "Hemofilia" e "Inhibidores del factor de coagulación". Se concluye que el desarrollo de inhibidoras refleja la interacción entre varios factores como la mutación genética, la respuesta inmune, los moduladores, además de las alteraciones adquiridas. Implicado en un reto importante en el ámbito terapéutico e impacto en la calidad de vida de los pacientes hemofílicos.

Citas

Astermark, J. (2015). FVIII inhibitors: pathogenesis and avoidance. Blood, The Journal of the American Society of Hematology, 125(13), 2045-2051.

Aznar, J., Moret, A., Ibanez, F., Vila, C., Cabrera, N., Mesa, E., et al. (2014). Inhibitor development after switching of FVIII concentrate in multitransfused patients with severe haemophilia A. Haemophilia, 20(5), 624-629.

Batorova, A., Jankovicova, D., Morongova, A., Bubanska, E., Prigancova, T., Horakova, J., et al. (2016). Inhibitors in severe hemophilia A: 25-year experience in Slovakia. Paper presented at the Seminars in Thrombosis and Hemostasis.

Batsuli, G., Deng, W., Healey, J. F., Parker, E. T., Baldwin, W. H., Cox, C., et al. (2016). High-affinity, noninhibitory pathogenic C1 domain antibodies are present in patients with hemophilia A and inhibitors. Blood, The Journal of the American Society of Hematology, 128(16), 2055-2067.

Brackmann, H., White 2nd, G., Berntorp, E., Andersen, T., & Escuriola-Ettingshausen, C. (2018). Immune tolerance induction: what have we learned over time? Haemophilia: the Official Journal of the World Federation of Hemophilia, 24, 3-14.

Brasil. (2008). Manual de diagnóstico e tratamento de eventos hemorrágicos. Hemofilia congênita e inibidor. Brasília. Ministério da Saúde. 2008. https://bvsms.saude.gov.br/bvs/publicacoes/hemofilia_congenita_inibidor_diagnostico_tratamento.pdf.

Brasil. (2021). Protocolo de uso de Emicizumabe por pacientes com Hemofilia A e Inibidores do Fator VIII refratários ao tratamento de imunotolerância. Brasília: Ministério da saúde, 2021. https://www.gov.br/saude/pt-br/assuntos/pcdt/arquivos/2021/portal-portaria-conjuntano-15-pu-emicizumabe_hemofilia.pdf.“

Bravo, M., Da Rocha‐Souto, B., Grancha, S., & Jorquera, J. (2014). Native plasma‐derived FVIII/VWF complex has lower sensitivity to FVIII inhibitors than the combination of isolated FVIII and VWF proteins. Impact on Bethesda assay titration of FVIII inhibitors. Haemophilia, 20(6), 905-911.

de Oliveira, A. B. T., de Magalhães, E. Q., da Silva, E. C., da Silva, G. L., Ladislau, R. S., da Silva, F. G. C., & Júnior, O. M. R. (2022). Hemofilia: Fisiopatologia e Diagnóstico. Research, Society and Development, 11(12), e564111234935-e564111234935.

DeKoven, M., Karkare, S., Lee, W., Kelley, L., Cooper, D., Pham, H., et al. (2014). Impact of haemophilia with inhibitors on caregiver burden in the United States. Haemophilia, 20(6), 822-830.

Ewing, N., Escuriola‐Ettingshausen, C., & Kreuz, W. (2015). Prophylaxis with FEIBA in paediatric patients with haemophilia A and inhibitors. Haemophilia, 21(3), 358-364.

Franchini, M., Castaman, G., Coppola, A., Santoro, C., Zanon, E., Di Minno, G., et al. (2015). Acquired inhibitors of clotting factors: AICE recommendations for diagnosis and management. Blood Transfusion, 13(3), 498.

Franchini, M., Marano, G., Pati, I., Candura, F., Profili, S., Veropalumbo, E., et al. (2019). Emicizumab for the treatment of haemophilia A: a narrative review. Blood Transfusion, 17(3), 223.

Gorski, M. M., Blighe, K., Lotta, L. A., Pappalardo, E., Garagiola, I., Mancini, I., et al. (2016). Whole-exome sequencing to identify genetic risk variants underlying inhibitor development in severe hemophilia A patients. Blood, 127(23), 2924-2933.

Gorski, M. M., Blighe, K., Lotta, L. A., Pappalardo, E., Garagiola, I., Mancini, I., et al. (2016). Whole-exome sequencing to identify genetic risk variants underlying inhibitor development in severe hemophilia A patients. Blood, The Journal of the American Society of Hematology, 127(23), 2924-2933.

Kempton, C. L., & Payne, A. B. (2018). HLA-DRB1–factor VIII binding is a risk factor for inhibitor development in nonsevere hemophilia: a case-control study. Blood Advances, 2(14), 1750-1755.

Kim, H.-Y., Cho, J.-H., Kim, H.-J., Chung, H.-S., Kim, S.-H., Lee, K.-O., et al. (2018). Ethnicity-specific impact of HLA I/II genotypes on the risk of inhibitor development: data from Korean patients with severe hemophilia A. Annals of Hematology, 97(9), 1695-1700.

Lai, J. D., Moorehead, P. C., Sponagle, K., Steinitz, K. N., Reipert, B. M., Hough, C., et al. (2016). Concurrent influenza vaccination reduces anti-FVIII antibody responses in murine hemophilia A. Blood, The Journal of the American Society of Hematology, 127(26), 3439-3449.

Ljung, R., Auerswald, G., Benson, G., Dolan, G., Duffy, A., Hermans, C., et al. (2019). Inhibitors in haemophilia A and B: Management of bleeds, inhibitor eradication and strategies for difficult‐to‐treat patients. European journal of haematology, 102(2), 111-122.

Ljung, R. C. (2018). How I manage patients with inherited haemophilia A and B and factor inhibitors. British Journal of Haematology, 180(4), 501-510.

Ljung, R. C. R. (2018). How I manage patients with inherited haemophilia A and B and factor inhibitors. Br J Haematol, 180(4), 501-510.

Lochan, A., Macaulay, S., Chen, W., Mahlangu, J., & Krause, A. (2014). Genetic factors influencing inhibitor development in a cohort of South African haemophilia A patients. Haemophilia, 20(5), 687-692.

Miller, C. H., Rice, A. S., Boylan, B., Payne, A. B., Kelly, F. M., Escobar, M. A., et al. (2015). Characteristics of hemophilia patients with factor VIII inhibitors detected by prospective screening. American journal of hematology, 90(10), 871-876.

Naderi, N., Ebrahimzadeh, F., Jazebi, M., Namvar, A., Hashemi, M., & Bolhassani, A. (2018). Polymorphisms in the TGF-β1 (rs1982037) and IL-2 (rs2069762, rs4833248) genes are not associated with inhibitor development in Iranian patients with hemophilia A. Hematology, 23(10), 839-843.

Naderi, N., Yousefi, H., Mollazadeh, S., Seyed Mikaeili, A., Keshavarz Norouzpour, M., Jazebi, M., et al. (2019). Inflammatory and immune response genes: a genetic analysis of inhibitor development in Iranian hemophilia A patients. Pediatric Hematology and Oncology, 36(1), 28-39.

Nakar, C., Manco-Johnson, M. J., Lail, A., Donfield, S., Maahs, J., Chong, Y., et al. (2015). Prompt immune tolerance induction at inhibitor diagnosis regardless of titre may increase overall success in haemophilia A complicated by inhibitors: experience of two U.S. centres. Haemophilia, 21(3), 365-373.

Oldenburg, J., Young, G., Santagostino, E., & Escuriola Ettingshausen, C. (2018). The importance of inhibitor eradication in clinically complicated hemophilia A patients. Expert Review of Hematology, 11(11), 857-862.

Sousa, C. I. F. de. (2010). Tratamento e profilaxia da Hemofilia na criança.29.

Wyatt, K. D., Coon, L. M., Rusk, D. N., Rodriguez, V., & Warad, D. M. (2019). Case Report: Development of Factor VIII Inhibitor in a Patient with an Uncommon de novo Mutation in the Factor VIII Gene. Acta Haematologica, 141(3), 129-134.

Zhao, M., Zhang, Y., Liu, Y., Sun, G., Tian, H., & Hong, L. (2019). Polymorphisms in MAPK9 (rs4147385) and CSF1R (rs17725712) are associated with the development of inhibitors in patients with haemophilia A in North China. International journal of laboratory hematology, 41(4), 572-577.

Publicado

09/10/2022

Cómo citar

SILVÉRIO , A. A. G. .; SILVA, A. M. G. .; TELES , L. de F. .; GONZAGA , L. C. .; MOTA , R. A. .; MENDONÇA JÚNIOR, R. U.; RAMOS, A. C. A. B. .; URIAS, E. V. R. . Impacto del desarrollo de inhibidores en el tratamiento y la calidad de vida de los pacientes con hemofilia: una revisión de la literatura . Research, Society and Development, [S. l.], v. 11, n. 13, p. e359111335638, 2022. DOI: 10.33448/rsd-v11i13.35638. Disponível em: https://rsdjournal.org/index.php/rsd/article/view/35638. Acesso em: 3 oct. 2024.

Número

Sección

Ciencias de la salud