Impact of inhibitor development on treatment and quality of life of patients with hemophilia: a literature review
DOI:
https://doi.org/10.33448/rsd-v11i13.35638Keywords:
Hemophilia; Therapy; Comorbidities; Inhibitors.Abstract
Hemophilia is an inherited bleeding disease and one of the main challenges of its treatment is the development of inhibitors. This work aimed to discuss the literature dealing with the presence of inhibitors given the diagnostic approach, therapy, and impact on quality of life. This is a review study consisting of 81 articles, the descriptors "Hemophilia" and "Coagulation Factor Inhibitors" were used. It is concluded that the development of inhibitors reflects the interaction between several factors such as genetic mutation, immune response, modulators, as well as acquired alterations. It implies an important challenge in the therapeutic scenario and impacts the quality of life of hemophilia patients.
References
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.
Downloads
Published
How to Cite
Issue
Section
License
Copyright (c) 2022 Alessa Assis Guimarães Silvério ; Arthur Macedo Goulart Silva; Leandro de Freitas Teles ; Larissa Caires Gonzaga ; Rosimere Afonso Mota ; Ronaldo Urias Mendonça Júnior; Anne Carolline Amaral Batista Ramos; Elaine Veloso Rocha Urias
This work is licensed under a Creative Commons Attribution 4.0 International License.
Authors who publish with this journal agree to the following terms:
1) Authors retain copyright and grant the journal right of first publication with the work simultaneously licensed under a Creative Commons Attribution License that allows others to share the work with an acknowledgement of the work's authorship and initial publication in this journal.
2) Authors are able to enter into separate, additional contractual arrangements for the non-exclusive distribution of the journal's published version of the work (e.g., post it to an institutional repository or publish it in a book), with an acknowledgement of its initial publication in this journal.
3) Authors are permitted and encouraged to post their work online (e.g., in institutional repositories or on their website) prior to and during the submission process, as it can lead to productive exchanges, as well as earlier and greater citation of published work.
