Genetic investigation on the pathophysiology and clinical symptoms of Hereditary Angioedema
DOI:
https://doi.org/10.33448/rsd-v9i10.7858Keywords:
Hereditary Angioedema; Bradykinin; Mutation; Genetics; Pathophysiology.Abstract
Hereditary Angioedema (HAE) is a disorder unknown by many health professionals, thus being underdiagnosed. The objective of the study was to analyze the articles related to the topic addressed in the last 5 years. HAE is a rare and severe genetic disease of the immune system, caused by a deficiency of the C1 esterase inhibitor (C1-INH), presenting an autosomal dominant inheritance. It is classified into 3 phenotypes: quantitative deficiency of the C1-INH inhibitor, dysfunction of the C1-INH and normal C1-INH. Mutations in several genes are associated with the HAE phenotype; patients with deficiency and dysfunction of the C1-INH protein have mutations in the SERPING1 gene, and patients with normal C1-INH may present mutations in the following genes: F12, angiopoietin (ANGPT1), plasminogen (PLG) or kininogen (KNG1). The symptoms of HAE include recurrent edema in several body parts, both on the skin and on internal organs. For the preparation of this study an integrative literature review was carried out, the articles were searched in three electronic databases (Google Scholar, PubMed and Scielo) using the descriptors “hereditary angioedema”, “mutations”, “bradykinin”, “C1-INH”, “SERPING1”, “plasminogen”, “angiopoietin”, “F12” and “kininogen”, connected by Boolean operators AND and OR. We found a a total of 874 articles, and after the screening, 32 articles were evaluated. This research enabled the understanding not only of the precursor mechanisms that leads to the development of this disease, but also of the genetic mutations responsible for the variety of HAE’s clinical manifestations, corroborating the building of knowledge of professionals involved in the diagnosis and treatment of this disorder.
References
Aygore-Pursun, E., & Bork K. (2019). Hereditary Angioedema. Der Internist (Berl), 60(9), 897-995. Doi: 10.1007/s00108-019-0644-1.
Bafunno, V., Firinu, D., D’apolito, M., Cordisco, G., Loffredo, S., Leccese, A., . . . Margaglione, M. (2018). Mutation of the Angiopoietin-1 Gene (ANGPT1) Associates with a New Type of Hereditary Angioedema. The Journal of Allergy and Clinical Immunology, 141(3), 1009-1017. Doi: 10.1016/j.jaci.2017.05.020.
Banday, A. Z., Kaur, A., Jindal, A. K., Rawat, A., & Singh, S. (2020). An Update On The Genetics And Pathogenesis Of Hereditary Angioedema. Science Direct, 7(1), 75-83. Doi: 10.1016/J.Gendis.2019.07.002.
Belbézier, A., Hardy, G., Marlu, R., Defendi, F., Perard, C. D., Boccon-Gibod, I., & Launay, D. (2018). Plasminogen Gene Mutation with Normal C1 Inhibitor Hereditary Angioedema: Three Addition Al French Families. Allergy European Journal of Allergy and Clinical Immunology, 73(11), 2237-2239. Doi: 10.1111/all.13543.
Bernstein, J. A., Tyson, C., Relan, A., Adams, P., & Magar, R. (2020). Modeling Cost-Effectiveness of On-Demand Treatment for Hereditary Angioedema Attacks. J Manag Care Spec Pharm, 26(2), 203-210. Doi: 10.18553/jmcp.2019.19217.
Bork, K., Wulff, K., Steinmeuller-Magin, L., Braenne, I., Staubach-Renz, P., Witzke, G., & Hardt, J. (2017). Hereditary Angioedema with a Mutation in the Plasminogen Gene. Allergy European Journal of Allergy and Clinical Immunology,73(2), 442-450. Doi: 10.1111/all.13270.
Bork, K., Wulff, K., Rossmann, H., Steinmuller-Magin, L., Braenne, I., Witzke, G., & Hardt, J. (2019). Hereditary Angioedema Cosegregating with a Novel Kininogen 1 Gene Mutation Changing the N‐Terminal Cleavage Site Of Bradykinin. Allergy, 74(12), 2479-2481. Doi: 10.1111/all.13869.
Bova, M., Suffritti, C., Baffuno, V., Loffredo, S., Cordisco, G., Del Giacco, S., . . . Cicardi, M. (2020). Impaired control of the contact system in Hereditary Angioedema with normal C1-inhibitor. Allergy, 75(6), 1394-1403. Doi: 10.1111/all.14160.
Branco, C. T. G. (2020) Estudo do Angioedema Hereditário em uma Grande Família da Região Sul do Brasil. (Dissertação de Mestrado) – Pós Graduação em Ciências Médicas da Universidade de Brasília, Brasília, Distrito Federal, Brasil.
Cagini, N., Veronez, C. L., Constantino-Silva, R. N., Buzolin, M., Martins, R. P., Grumach, A. S., . . . Pesquero, J. B. (2016). New mutations in SERPING1 gene of Brazilian patients with Hereditary Angioedema. Biol Chem., 397(4), 337-44. Doi: 101515/hsz-2015-0222.
Dias, M. M., Moreno, A. S., Maia, L. S. M., Nunes, F. L., Campos, W. N., Ferriani, M. P. L., Silva, W. A., & Arruda, K. L. A. (2019). A Cost-Effective Algorithm for Diagnosis of Hereditary Angioedema with Normal C1 Inhibitor: Applying Molecular Approach to Clinical Practice. The Journal of Allergy and Clinical Immunology In Pratice, 2198(19), 30615-30626. Doi: 10.1016/j.jaip.2019.06.041.
Forrest, A., Milne, N., & Soon, A. (2017). Hereditary Angioedema: Death After a Dental Extraction. Australian Dental Journal, 62(1), 107-110. Doi: 10.1111/adj.12447.
Germenis, A. E., Margaglione, M., Pesqueiro, J. B., Farkas, H., Cichon, S., Csuka, D., . . . Zamanakou, M. (2020) International Consensus On The Use Of Genetics In The Management Of Hereditary Angioedema. J Allergy Clin Immunol Pract, 8(3), 901-911. Doi: 10.1016/J.Jaip.2019.10.004.
Giavina-Bianchi, P., Arruda, L. K., Aun, M. V., Campos, R. A., Chong-Neto, H. J., Constantino-Silva, R. N., . . . Grumach, A. S. (2017). Diretrizes Brasileiras para o Diagnóstico e Tratamento do Angioedema Hereditário. Brazilian Guidelines for the Diagnosis and Treatmento Hereditary Angioedema. ASBAI - Revista De Asma, Alergia E Imunologia, 1(1), 23-28. Doi: org/10.5935/2526‑5393.20170005.
Grumach, A. S., Ferraroni, N., Olivares, M. M., Lopez-Serrano, M. C., & Bygum, A. (2017). An Abc Of The Warning Signs Of Hereditary Angioedema. International Archives Of Allergy And Immunology, 174(1),1-6. Doi: 10.1159/000479839.
Hakl, R., Kuklínek, P., Kadlecová, P., & Litzman, J. (2016). Hereditary Angio-Oedema with C1 Inhibitor Deficiency: Characteristics and Diagnostic Delay of Czech Patients From One Centre. Allergologia et Immunopathologia (MADRI), 44(3), 241-245. Doi: 10.1016/j.aller.2015.09.003.
Kaplan, A. P., & Joseph, K. (2017). Pathogenesis of Hereditary Angioedema: The Role of the Bradykinin-Forming Cascade. Immunol Allergy Clin North Am., 37(3), 513-525. Doi: 10.1016/j.iac.2017.04.001.
Kruk, T., Chong-Neto, H. J., Dias, M. M., Campos, W. N., Moreno, A. S., Mikami, L. R., . . . Filho, N. R. (2020) Study of Angiopoietin and Plasminogen genes in Hereditary Angioedema. Rev Assoc Med Bras., 66(4), 502-506. Doi: 10.1590/1806-9282.66.4.502.
Larrauri, B., Hester, C. G., Jiang, H., Miletic, V. D., Malbran, A., Bork, K., Kaplan, A., & Frank, M. (2020) Sgp120 And The Contact System In Hereditary Angioedema: A Diagnostic Tool In Hae With Normal C1 Inhibitor. Mol Immunol., 119, 27-34. Doi: 10.1016/J.Molimm.2020.01.003.
Machado, M. S. R. (2018) Avaliação da concentração Plasmática de Angiopoietina 1 e 2 na predição de pré-eclâmpsia. (Tese de Doutorado) – Pós Graduação em Ginecologia e Obstetrícia da Faculdade de Medicina de Ribeirão Preto da Universidade de São Paulo, Ribeirão Preto, São Paulo, Brasil.
Maurer, M., Mager, M., Ansotegui, I., Aygoren-Pursun, E., Betschel, S., Bork, K., . . . Craig, T. (2018). The international WAO/EAACI guideline for the management of Hereditary Angioedema-the 2017 revision and update. Allergy, 73(8), 1575-1596. Doi: 10.1111/all.13384.
Marceau, F., Riverd, G. E., Gauthier, J. M., Binkley, K. E., Bonnefoy, A., Boccon-Gibod, I., . . . Bork, K. (2020). Measurement Of Bradykinin Formation And Degradation In Blood Plasma: Relevance For Acquired Angioedema Associated With Angiotensin Converting Enzyme Inhibition And For Hereditary Angioedema Due To Factor Xii Or Plasminogen Gene Variants. Front Med (Lausane), 17(7), 358. Doi: 10.3389/Fmed.2020.00358.
Moldovan, D., Bara, N., Nadasan, V., Gabos, G., & Mihaly, E. (2018). Consequences of Misdiagnosed and Mismanaged Hereditary Angioedema Laryngeal Attacks: an Overview of Cases From the Romanian Registry. Hindawi Case Reports in Emergency Medicine, 2018, 6. Doi: 10.1155/2018/6363787
Moreno, A. S., Valle, S. O. R., Levy, S., Franca, A. T., Serpa, F. S., Arcuri, H. A., . . . Arruda, L. K. (2015). Coagulation Factor XII Gene Mutation in Brazilian Families with Hereditary Angioedema with Normal C1 Inhibitor. International Archives Allergy And Immunology, 166(2), 114-120. Doi: 10.1159/000376547
Obtulowicz, K. (2016). Bradykinin-mediated Angioedema. Pol Arch Med Wewn, 126(1-2), 76-85. Doi: 10.20452/pamw.3273
Pereira, A. S., Shitsuka, D. M., Parreira, F. J., & Shitsuka, R. (2018). Metodologia de pesquisa cientifica [E-book]. Santa Maria: Universidade Federal de Santa Maria. Recuperado de https://repositorio.ufsm.br/bitstream/handle/1/15824/Lic_Computacao_Metodologia-Pesquisa-Cientifica.pdf?sequence=1.
Reshef, A., Kidon, M., & Leibovich, I. (2016). The Story Of Angioedema: From Quincke To Bradykinin. Clin Rev Allergy Immunol., 51(2), 121-39. Doi: 10.1007/S12016-016-8553-8.
Silva, F. S., Silva, G. S., Costa, A. C. M., Carvalho Filha, F. S. S., Medeiros Júnior, F. C., & Câmara, J. T. (2019). Cuidados de enfermagem a pacientes oncológicos: revisão integrativa. Research, Society and Development, 8(6), e 35861037. Doi: https://doi.org/10.33448/rsd-v8i6.1037.
Sim, D. W., Park, K. H., Lee, J. H., & Park, J. W. (2017). A Case of Tipe 2 Hereditary Angiodema with SERPING1 Mutation. Allergy Asthma Immunol Research, 9(1), 96-98. Doi: 10.4168/aair.2017.9.1.96.
Souza, M. T., Silva, M. D., & Carvalho, R. (2010). Revisão integrativa: o que é e como fazer. Einetein (São Paulo), 8(1). Doi: https://doi.org/10.1590/s1679-45082010rw1134
Veronez, C. L., Campos, R. A., Constantino-Silva, R. N., Nicolicht, P., Pesqueiro, J. B., & Grumach, A. S. (2019). Hereditary Angioedema-Associated Acute Pancreatitis in C1-Inhibitor Deficient and Normal C1-Inhibitor Patients: Case Reports and Literature Review. Frontiers and Medicine, 17(6), 80. Doi: 10.3389/fmed.2019.00080.
Valle S, Grumach A, Serpa, F. S., & Emerson F. (2019). Doutor Eu tenho Angioedema Hereditário. Brasil. Recuperado de: http://asbai.org.br/doutor-eu-tenho-angioedema-hereditario/
Van Del Elzen, M., Go, M. F. C. L., Knulst, A. C., Blankestijin, M. A., Os-Medendorp, H. V., & Otten, H. G. (2018). Efficacy of Treatment of Non-Hereditary Angioedema. Clin Rev Allergy Immunol., 54(3), 412-431. Doi: 10.1007/s12016-016-8585-0.
Zuraw, B. L. (2018) Hereditary Angioedema with Normal C1 Inhibitor: Four Types and Counting. The Journal of Allergy And Clinical Immunology, 141(3), 884-885. Doi: 10.1016/j.jaci.2018.01.015.
Yakushiji, H., Hashimura, C., Fukuoka, K., Kaji, A., Miyahara, H., Kaname, S., & Horiuchi, T. (2018). A Missense Mutation of the Plasminogen Gene in Hereditary Angioedema with Normal C1 Inhibitor in Japan. Allergy European Journal of Allergy and Clinical Immunology, 73(11), 442-450. Doi: 10.1111/all.13550.
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Copyright (c) 2020 Tatielly Kruk; Lucas Marques Fortunato; Caroline Guth de freitas Batista de Moraes; Herberto José Chong-Neto; Liya Regina Mikami; Lilian Pereira Ferrari; Nelson Rosário Filho
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