Hereditary angioedema: first report of the Brazilian registry and challenges

Detalhes bibliográficos
Autor(a) principal: Grumach, A. S.
Data de Publicação: 2013
Outros Autores: Valle, S. O. R., Toledo, E., Vasconcelos, D. de Moraes, Villela, M. M. S., Mansour, E., Pinto, J. A., Campos, Régis de Albuquerque, França, A. T.
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UFBA
Texto Completo: http://repositorio.ufba.br/ri/handle/ri/13842
Resumo: Texto completo. Acesso restrito. p. 338-344
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spelling Grumach, A. S.Valle, S. O. R.Toledo, E.Vasconcelos, D. de MoraesVillela, M. M. S.Mansour, E.Pinto, J. A.Campos, Régis de AlbuquerqueFrança, A. T.Grumach, A. S.Valle, S. O. R.Toledo, E.Vasconcelos, D. de MoraesVillela, M. M. S.Mansour, E.Pinto, J. A.Campos, Régis de AlbuquerqueFrança, A. T.2013-11-22T12:07:15Z20130926-9959http://repositorio.ufba.br/ri/handle/ri/13842v. 27, n. 3Texto completo. Acesso restrito. p. 338-344Background Hereditary Angio-oedema (HAE) is a serious medical condition caused by a rare autosomal dominant genetic disorder, in which C1 inhibitor (C1-INH) function is reduced. There is no organized information on the HAE patient population in Brazil. Objective The Brazilian Registry was established to disseminate diagnostic access, and to better understand the main features of the disease in our country and its clinical impact. Methods A questionnaire was prepared and sent to specialists. The completed questionnaires were forwarded to the coordinating site and then entered into the Registry. Samples from patients with an unconfirmed diagnosis were tested for C1 inhibitor and C4 levels. Results From 2006 to 2010, 210 patients (133 females; mean age, 30 ±17 years) were included. The median age of onset of symptoms and age at diagnosis were 6.5 and 21 years, respectively; 80.9% of the patients had subcutaneous oedema, 54% gastrointestinal and 35.7% respiratory symptoms (21% had laryngeal oedema). Laparotomy due to the disease was performed in 6.2% of the patients. The majority of patients had Type I HAE of moderate severity. Twenty-seven per cent did not receive treatment; 53% were treated with danazol alone. Conclusion A paucity of patients with Type II HAE and a high frequency of laparotomy were observed, highlighting the need for better diagnosis in Brazil. HAE related educational activities, improved diagnosis and access to available therapy are needed in Brazil.Submitted by Santiago Fabio (fabio.ssantiago@hotmail.com) on 2013-06-27T19:05:22Z No. of bitstreams: 1 33333333.pdf: 304566 bytes, checksum: be9f50a1e3dc80b6033ebffc76212f59 (MD5)Approved for entry into archive by Rodrigo Meirelles (rodrigomei@ufba.br) on 2013-11-22T12:07:15Z (GMT) No. of bitstreams: 1 33333333.pdf: 304566 bytes, checksum: be9f50a1e3dc80b6033ebffc76212f59 (MD5)Made available in DSpace on 2013-11-22T12:07:15Z (GMT). No. of bitstreams: 1 33333333.pdf: 304566 bytes, checksum: be9f50a1e3dc80b6033ebffc76212f59 (MD5) Previous issue date: 2013SalvadorJournal of the European Academy of Dermatology and Venereology10.1111/j.1468-3083.2012.04670.xreponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBAHereditary angioedema: first report of the Brazilian registry and challengesJournal of the European Academy of Dermatology and Venereologyinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10000-01-01info:eu-repo/semantics/openAccessengORIGINAL33333333.pdf33333333.pdfapplication/pdf304566https://repositorio.ufba.br/bitstream/ri/13842/1/33333333.pdfbe9f50a1e3dc80b6033ebffc76212f59MD51LICENSElicense.txtlicense.txttext/plain1762https://repositorio.ufba.br/bitstream/ri/13842/2/license.txt1b89a9a0548218172d7c829f87a0eab9MD52TEXT33333333.pdf.txt33333333.pdf.txtExtracted texttext/plain28541https://repositorio.ufba.br/bitstream/ri/13842/3/33333333.pdf.txt8a148885a83cbcc18465970b4403d4acMD53ri/138422022-07-05 14:03:03.057oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-07-05T17:03:03Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
dc.title.pt_BR.fl_str_mv Hereditary angioedema: first report of the Brazilian registry and challenges
dc.title.alternative.pt_BR.fl_str_mv Journal of the European Academy of Dermatology and Venereology
title Hereditary angioedema: first report of the Brazilian registry and challenges
spellingShingle Hereditary angioedema: first report of the Brazilian registry and challenges
Grumach, A. S.
title_short Hereditary angioedema: first report of the Brazilian registry and challenges
title_full Hereditary angioedema: first report of the Brazilian registry and challenges
title_fullStr Hereditary angioedema: first report of the Brazilian registry and challenges
title_full_unstemmed Hereditary angioedema: first report of the Brazilian registry and challenges
title_sort Hereditary angioedema: first report of the Brazilian registry and challenges
author Grumach, A. S.
author_facet Grumach, A. S.
Valle, S. O. R.
Toledo, E.
Vasconcelos, D. de Moraes
Villela, M. M. S.
Mansour, E.
Pinto, J. A.
Campos, Régis de Albuquerque
França, A. T.
author_role author
author2 Valle, S. O. R.
Toledo, E.
Vasconcelos, D. de Moraes
Villela, M. M. S.
Mansour, E.
Pinto, J. A.
Campos, Régis de Albuquerque
França, A. T.
author2_role author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Grumach, A. S.
Valle, S. O. R.
Toledo, E.
Vasconcelos, D. de Moraes
Villela, M. M. S.
Mansour, E.
Pinto, J. A.
Campos, Régis de Albuquerque
França, A. T.
Grumach, A. S.
Valle, S. O. R.
Toledo, E.
Vasconcelos, D. de Moraes
Villela, M. M. S.
Mansour, E.
Pinto, J. A.
Campos, Régis de Albuquerque
França, A. T.
description Texto completo. Acesso restrito. p. 338-344
publishDate 2013
dc.date.accessioned.fl_str_mv 2013-11-22T12:07:15Z
dc.date.issued.fl_str_mv 2013
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dc.identifier.uri.fl_str_mv http://repositorio.ufba.br/ri/handle/ri/13842
dc.identifier.issn.none.fl_str_mv 0926-9959
dc.identifier.number.pt_BR.fl_str_mv v. 27, n. 3
identifier_str_mv 0926-9959
v. 27, n. 3
url http://repositorio.ufba.br/ri/handle/ri/13842
dc.language.iso.fl_str_mv eng
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dc.publisher.none.fl_str_mv Journal of the European Academy of Dermatology and Venereology
publisher.none.fl_str_mv Journal of the European Academy of Dermatology and Venereology
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