Angioedema Hereditário: da manifestação precoce ao diagnóstico e tratamento

Detalhes bibliográficos
Autor(a) principal: Martignoni, Luciane
Data de Publicação: 2022
Tipo de documento: Dissertação
Idioma: por
Título da fonte: Biblioteca Digital de Teses e Dissertações do UNIOESTE
Texto Completo: https://tede.unioeste.br/handle/tede/6496
Resumo: Hereditary angioedema (HAE) is an autosomal dominant genetic disorder with immunological repercussions, characterized by subcutaneous and submucosal edema, mainly affecting the extremities, face and abdomen. A condition still underdiagnosed, causing recurrent consultations. The main problems faced by patients and their families are delayed diagnosis and the risk of laryngeal obstruction and event with mortality estimated at 25 to 40%. On average, the diagnosis of HAE occurs around four to seven years after the onset of symptoms. Its pathophysiology based on the quantitative or qualitative alteration of the complement system C1, causing an increase in bradykinin, which, when binding to the B2 receptor, increases the capillary permeability of blood vessels, resulting in angioedema. The objective of this work was to describe the clinical case of an infant who started HAE symptoms at the age of 18 months and to evaluate the peculiarities inherent to the diagnoses in this age group, as well as the evolution and impact on the quality of life. Study of the “case report” type. The review was based on the following outcomes: epidemiology, signs and symptoms/diagnosis and pharmacological treatment. Despite being a non-systematic review, search strategies based on MESH and the use of Boolean operators were employed. The database was Medline/PubMed, using original studies and guidelines, selected according to the convenience of the topic and evaluated by peers. The assertive diagnosis of HAE brought adequate guidance and therapy to the patient who suffered from recurring breaks of edema on the face, lips and abdominal pain since the age of eighteen months. Regarding the review, there is a scarcity of epidemiological studies on HAE, showing that signs and symptoms begin even before the age of ten, with limiting and recurrent abdominal pain being a common clinical finding. The topographic distribution of the disease follows an order of prevalence, being hands(74%), feet (59%), gastrointestinal tract (58%) and face (50%). The severity of the disease accompanies advancing age and the earlier the manifestations, the greater the severity. Child pharmacological treatment has two therapeutic lines, prophylactic (short and long term) and in the acute crisis. First-line prophylactic treatment consists of human plasma-derived C1-INH concentrates and kallikrein inhibitors. Above 12 years old, adult medication are adopted. In the acute crisis conditions, only two drug classes are approved in Brazil: pdC1-INH and icatibant. Few studies were observed in the pediatric population, especially in the therapeutic question, there are minimal clinical trials directed to this population. From the review realized, it was possible to understand the natural history of the disease, as well as the main difficulties faced: diagnosis and early treatment. This study may contribute to the inclusion of HAE in the diagnosis hypotheses of pediatric practice and thus increase the diagnostic and therapeutic probability, in addition to adequate genetic guidance for the family, of this important morbidity still neglected by health professionals.
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spelling Pascotto, Claudicéia Rissohttp://lattes.cnpq.br/9474794343913304Pascotto, Claudicéia Rissohttp://lattes.cnpq.br/9474794343913304Wendt, Guilherme Welterhttp://lattes.cnpq.br/3121742068507086Treco, Fernando Rodrigohttp://lattes.cnpq.br/0633607976550229http://lattes.cnpq.br/1595297950843355Martignoni, Luciane2023-03-13T19:35:31Z2022-11-16MARTIGNONI, Luciane. Angioedema Hereditário: da manifestação precoce ao diagnóstico e tratamento. 2022. 49 f. Dissertação (Mestrado em Ciências Aplicadas à Saúde) - Universidade Estadual do Oeste do Paraná, Francisco Beltrão, 2022.https://tede.unioeste.br/handle/tede/6496Hereditary angioedema (HAE) is an autosomal dominant genetic disorder with immunological repercussions, characterized by subcutaneous and submucosal edema, mainly affecting the extremities, face and abdomen. A condition still underdiagnosed, causing recurrent consultations. The main problems faced by patients and their families are delayed diagnosis and the risk of laryngeal obstruction and event with mortality estimated at 25 to 40%. On average, the diagnosis of HAE occurs around four to seven years after the onset of symptoms. Its pathophysiology based on the quantitative or qualitative alteration of the complement system C1, causing an increase in bradykinin, which, when binding to the B2 receptor, increases the capillary permeability of blood vessels, resulting in angioedema. The objective of this work was to describe the clinical case of an infant who started HAE symptoms at the age of 18 months and to evaluate the peculiarities inherent to the diagnoses in this age group, as well as the evolution and impact on the quality of life. Study of the “case report” type. The review was based on the following outcomes: epidemiology, signs and symptoms/diagnosis and pharmacological treatment. Despite being a non-systematic review, search strategies based on MESH and the use of Boolean operators were employed. The database was Medline/PubMed, using original studies and guidelines, selected according to the convenience of the topic and evaluated by peers. The assertive diagnosis of HAE brought adequate guidance and therapy to the patient who suffered from recurring breaks of edema on the face, lips and abdominal pain since the age of eighteen months. Regarding the review, there is a scarcity of epidemiological studies on HAE, showing that signs and symptoms begin even before the age of ten, with limiting and recurrent abdominal pain being a common clinical finding. The topographic distribution of the disease follows an order of prevalence, being hands(74%), feet (59%), gastrointestinal tract (58%) and face (50%). The severity of the disease accompanies advancing age and the earlier the manifestations, the greater the severity. Child pharmacological treatment has two therapeutic lines, prophylactic (short and long term) and in the acute crisis. First-line prophylactic treatment consists of human plasma-derived C1-INH concentrates and kallikrein inhibitors. Above 12 years old, adult medication are adopted. In the acute crisis conditions, only two drug classes are approved in Brazil: pdC1-INH and icatibant. Few studies were observed in the pediatric population, especially in the therapeutic question, there are minimal clinical trials directed to this population. From the review realized, it was possible to understand the natural history of the disease, as well as the main difficulties faced: diagnosis and early treatment. This study may contribute to the inclusion of HAE in the diagnosis hypotheses of pediatric practice and thus increase the diagnostic and therapeutic probability, in addition to adequate genetic guidance for the family, of this important morbidity still neglected by health professionals.O angioedema hereditário (AEH) é uma afecção genética autossômica dominante com repercussões imunológicas, caracterizada por quadro de edema subcutâneo e submucoso. O AEH acomete principalmente as extremidades, face e abdome, sendo uma afecção ainda subdiagnosticada, causando consultas recorrentes. Dentre os principais problemas enfrentados pelos pacientes e familiares, destacam-se o retardo do diagnóstico e o risco de obstrução laríngea, evento com mortalidade estimada em 25 a 40%. O diagnóstico do AEH ocorre em torno de quatro a sete anos após o início dos sintomas. Sua fisiopatologia se baseia na alteração quantitativa ou qualitativa do sistema complemento C1, acarretando um aumento da bradicinina, a qual ao se ligar ao receptor B2 aumenta a permeabilidade capilar dos vasos sanguíneos resultando no quadro de angioedema. O objetivo deste trabalho foi descrever um caso clínico que iniciou os sintomas de AEH, ainda lactente, aos 18 meses de vida e fazer uma avaliação das particularidades inerentes aos diagnósticos nesta faixa etária, assim como a evolução e repercussão na qualidade de vida. Trata-se de um estudo do tipo “case report”. A revisão se pautou nos seguintes desfechos: epidemiologia, sinais e sintomas/diagnóstico e tratamento farmacológico. Estratégias de buscas baseadas no Medical Subject Headings (MESH) e uso de operados boolenos foram empregados. A base de dados foi Medline/Pubmed, utilizando estudos originais e guidelines, selecionados conforme conveniência do tema E avaliado por pares. O diagnóstico assertivo DE AEH, trouxe orientação e terapêutica adequada para a paciente a qual sofria de crises recorrentes de edema de face, lábios e dor abdominal desde os dezoito meses. Há escassez de estudos epidemiológicos sobre AEH, evidenciando que os sinais e sintomas iniciam ainda antes dos dez anos de idade, sendo a dor abdominal limitante e recorrente um achado clínico comum. A distribuição topográfica da doença segue uma ordem de prevalência, sendo mãos (74%), pés (59%), aparelho gastrointestinal (58%) e face (50%). A gravidade da doença acompanha o avançar da idade e quanto mais precoce as manifestações, maior a gravidade. O tratamento farmacológico infantil apresenta duas linhas terapêuticas, profilática (curto e longo prazo) e na crise aguda. o tratamento profilático de primeira linha é constituído por concentrados de C1-INH derivados do plasma humano e inibidores da calicreína. Acima de 12 anos, adotam-se os medicamentos da idade adulta. NA CRISE AGUDA, apenas duas classes medicamentosas estão aprovadas no Brasil: o pdC1-INH e o icatibanto. Observou-se poucos estudos na população pediátrica, especialmente na questão terapêutica, mínimos sãos os ensaios clínicos direcionados a essa população. A partir da revisão realizada, foi possível compreender a história natural da doença, bem como as principais dificuldades enfrentadas: diagnóstico e tratamento precoce. Esse estudo poderá contribuir com a inclusão do AEH nas hipóteses diagnósticas da prática pediátrica e, assim, aumentar a probabilidade diagnóstica e terapêutica, além da orientação genética adequada para a família, desta importante morbidade ainda negligenciada por profissionais da saúde.Submitted by Almir Squinsani (almir.squinsani@unioeste.br) on 2023-03-13T19:35:31Z No. of bitstreams: 2 Luciane_Martignoni_2022.pdf: 1272638 bytes, checksum: edf48f6cda02aeb15e6fddd56814e80f (MD5) license_rdf: 0 bytes, checksum: d41d8cd98f00b204e9800998ecf8427e (MD5)Made available in DSpace on 2023-03-13T19:35:31Z (GMT). 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dc.title.por.fl_str_mv Angioedema Hereditário: da manifestação precoce ao diagnóstico e tratamento
dc.title.alternative.eng.fl_str_mv Hereditary Angioedema: from early manifestation to diagnosis and treatment
title Angioedema Hereditário: da manifestação precoce ao diagnóstico e tratamento
spellingShingle Angioedema Hereditário: da manifestação precoce ao diagnóstico e tratamento
Martignoni, Luciane
Criança
Angioedema hereditário
Inibidor de C1 esterase
Diagnóstico
Tratamento
Child
Hereditary Angioedema
C1 Esterase Inhibitor
Diagnosis
Treatment
CIÊNCIAS DA SAÚDE
title_short Angioedema Hereditário: da manifestação precoce ao diagnóstico e tratamento
title_full Angioedema Hereditário: da manifestação precoce ao diagnóstico e tratamento
title_fullStr Angioedema Hereditário: da manifestação precoce ao diagnóstico e tratamento
title_full_unstemmed Angioedema Hereditário: da manifestação precoce ao diagnóstico e tratamento
title_sort Angioedema Hereditário: da manifestação precoce ao diagnóstico e tratamento
author Martignoni, Luciane
author_facet Martignoni, Luciane
author_role author
dc.contributor.advisor1.fl_str_mv Pascotto, Claudicéia Risso
dc.contributor.advisor1Lattes.fl_str_mv http://lattes.cnpq.br/9474794343913304
dc.contributor.referee1.fl_str_mv Pascotto, Claudicéia Risso
dc.contributor.referee1Lattes.fl_str_mv http://lattes.cnpq.br/9474794343913304
dc.contributor.referee2.fl_str_mv Wendt, Guilherme Welter
dc.contributor.referee2Lattes.fl_str_mv http://lattes.cnpq.br/3121742068507086
dc.contributor.referee3.fl_str_mv Treco, Fernando Rodrigo
dc.contributor.referee3Lattes.fl_str_mv http://lattes.cnpq.br/0633607976550229
dc.contributor.authorLattes.fl_str_mv http://lattes.cnpq.br/1595297950843355
dc.contributor.author.fl_str_mv Martignoni, Luciane
contributor_str_mv Pascotto, Claudicéia Risso
Pascotto, Claudicéia Risso
Wendt, Guilherme Welter
Treco, Fernando Rodrigo
dc.subject.por.fl_str_mv Criança
Angioedema hereditário
Inibidor de C1 esterase
Diagnóstico
Tratamento
topic Criança
Angioedema hereditário
Inibidor de C1 esterase
Diagnóstico
Tratamento
Child
Hereditary Angioedema
C1 Esterase Inhibitor
Diagnosis
Treatment
CIÊNCIAS DA SAÚDE
dc.subject.eng.fl_str_mv Child
Hereditary Angioedema
C1 Esterase Inhibitor
Diagnosis
Treatment
dc.subject.cnpq.fl_str_mv CIÊNCIAS DA SAÚDE
description Hereditary angioedema (HAE) is an autosomal dominant genetic disorder with immunological repercussions, characterized by subcutaneous and submucosal edema, mainly affecting the extremities, face and abdomen. A condition still underdiagnosed, causing recurrent consultations. The main problems faced by patients and their families are delayed diagnosis and the risk of laryngeal obstruction and event with mortality estimated at 25 to 40%. On average, the diagnosis of HAE occurs around four to seven years after the onset of symptoms. Its pathophysiology based on the quantitative or qualitative alteration of the complement system C1, causing an increase in bradykinin, which, when binding to the B2 receptor, increases the capillary permeability of blood vessels, resulting in angioedema. The objective of this work was to describe the clinical case of an infant who started HAE symptoms at the age of 18 months and to evaluate the peculiarities inherent to the diagnoses in this age group, as well as the evolution and impact on the quality of life. Study of the “case report” type. The review was based on the following outcomes: epidemiology, signs and symptoms/diagnosis and pharmacological treatment. Despite being a non-systematic review, search strategies based on MESH and the use of Boolean operators were employed. The database was Medline/PubMed, using original studies and guidelines, selected according to the convenience of the topic and evaluated by peers. The assertive diagnosis of HAE brought adequate guidance and therapy to the patient who suffered from recurring breaks of edema on the face, lips and abdominal pain since the age of eighteen months. Regarding the review, there is a scarcity of epidemiological studies on HAE, showing that signs and symptoms begin even before the age of ten, with limiting and recurrent abdominal pain being a common clinical finding. The topographic distribution of the disease follows an order of prevalence, being hands(74%), feet (59%), gastrointestinal tract (58%) and face (50%). The severity of the disease accompanies advancing age and the earlier the manifestations, the greater the severity. Child pharmacological treatment has two therapeutic lines, prophylactic (short and long term) and in the acute crisis. First-line prophylactic treatment consists of human plasma-derived C1-INH concentrates and kallikrein inhibitors. Above 12 years old, adult medication are adopted. In the acute crisis conditions, only two drug classes are approved in Brazil: pdC1-INH and icatibant. Few studies were observed in the pediatric population, especially in the therapeutic question, there are minimal clinical trials directed to this population. From the review realized, it was possible to understand the natural history of the disease, as well as the main difficulties faced: diagnosis and early treatment. This study may contribute to the inclusion of HAE in the diagnosis hypotheses of pediatric practice and thus increase the diagnostic and therapeutic probability, in addition to adequate genetic guidance for the family, of this important morbidity still neglected by health professionals.
publishDate 2022
dc.date.issued.fl_str_mv 2022-11-16
dc.date.accessioned.fl_str_mv 2023-03-13T19:35:31Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/masterThesis
format masterThesis
status_str publishedVersion
dc.identifier.citation.fl_str_mv MARTIGNONI, Luciane. Angioedema Hereditário: da manifestação precoce ao diagnóstico e tratamento. 2022. 49 f. Dissertação (Mestrado em Ciências Aplicadas à Saúde) - Universidade Estadual do Oeste do Paraná, Francisco Beltrão, 2022.
dc.identifier.uri.fl_str_mv https://tede.unioeste.br/handle/tede/6496
identifier_str_mv MARTIGNONI, Luciane. Angioedema Hereditário: da manifestação precoce ao diagnóstico e tratamento. 2022. 49 f. Dissertação (Mestrado em Ciências Aplicadas à Saúde) - Universidade Estadual do Oeste do Paraná, Francisco Beltrão, 2022.
url https://tede.unioeste.br/handle/tede/6496
dc.language.iso.fl_str_mv por
language por
dc.relation.program.fl_str_mv 6290525253230630664
dc.relation.confidence.fl_str_mv 600
600
dc.relation.department.fl_str_mv 292441653440865123
dc.rights.driver.fl_str_mv http://creativecommons.org/licenses/by-nc-nd/4.0/
info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Universidade Estadual do Oeste do Paraná
Francisco Beltrão
dc.publisher.program.fl_str_mv Programa de Pós-Graduação em Ciências Aplicadas à Saúde
dc.publisher.initials.fl_str_mv UNIOESTE
dc.publisher.country.fl_str_mv Brasil
dc.publisher.department.fl_str_mv Centro de Ciências da Saúde
publisher.none.fl_str_mv Universidade Estadual do Oeste do Paraná
Francisco Beltrão
dc.source.none.fl_str_mv reponame:Biblioteca Digital de Teses e Dissertações do UNIOESTE
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