The added value of a multidisciplinary clinic for systemic autoinflammatory diseases

Detalhes bibliográficos
Autor(a) principal: Zinterl, Carolina
Data de Publicação: 2022
Outros Autores: Costa Reis, Patricia, Esteves, Isabel Castro, Marques, José, Sousa, Ana Berta, Fonseca, João Eurico, Oliveira Ramos, Filipa
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10451/58141
Resumo: © 2022 The Author(s). This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.
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spelling The added value of a multidisciplinary clinic for systemic autoinflammatory diseasesPediatricsRheumatologySystemic autoinflammatory syndromes© 2022 The Author(s). This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.Background: Systemic autoinflammatory diseases (SAID) are characterized by inappropriate activation of the innate immune system and include not only monogenic periodic fever syndromes but also multifactorial conditions. As SAID are rare and represent a diagnostic challenge, a multidisciplinary approach is important to ensure successful diagnosis and adequate follow-up of these patients. Objective: To describe the organization of our multidisciplinary SAID clinic and to characterize our clinical experience, highlighting the benefits of multidisciplinary team management. Methods: Our SAID clinic takes place monthly and is managed by pediatric rheumatologists closely collaborating with pediatricians specialized in infectious diseases and immunodeficiencies and one medical geneticist. Patients' data are systematically incorporated in the Rheumatic Diseases Portuguese Register (Reuma.pt). Biological samples are stored in a biobank. We describe our clinical experience based on SAID patients registered into Reuma.pt/SAID between July 2011 and June 2020. Results: We have registered 176 patients, with a median age of disease onset of 3.1 ± 4.4 years and median age at disease diagnosis of 4.7 ± 4.0 years. Most patients were diagnosed with periodic fever, aphthous stomatitis, pharyngitis, adenitis syndrome (PFAPA) (n=133), 20 with undefined SAID (uSAID) and 13 with monogenic SAID, including familial Mediterranean fever (FMF) (n=5), tumor necrosis factor receptor-associated periodic syndrome (TRAPS) (n=1), cryopyrin-associated periodic disease (CAPS) (n=1), and hyperimmunoglobulin D syndrome/mevalonate kinase deficiency (HIDS/MKD) (n=2). A genetic test was performed in 31 patients (18%), and in 26% of these a mutation responsible for the phenotype was found. Thirty-four patients (19%) achieved remission. Conclusion: FMF was the most common monogenic SAID and the percentage of patients with an identified causal mutation was low. A structured electronic clinical record coupled with a biobank and a multidisciplinary approach are crucial to ensure successful diagnosis and adequate follow-up of these patients.Dove PressRepositório da Universidade de LisboaZinterl, CarolinaCosta Reis, PatriciaEsteves, Isabel CastroMarques, JoséSousa, Ana BertaFonseca, João EuricoOliveira Ramos, Filipa2023-06-09T13:41:08Z20222022-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/58141engJ Multidiscip Healthc. 2022 May 4;15:999-101010.2147/JMDH.S3515461178-2390info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-11-08T17:06:46Zoai:repositorio.ul.pt:10451/58141Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:08:23.152166Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse
dc.title.none.fl_str_mv The added value of a multidisciplinary clinic for systemic autoinflammatory diseases
title The added value of a multidisciplinary clinic for systemic autoinflammatory diseases
spellingShingle The added value of a multidisciplinary clinic for systemic autoinflammatory diseases
Zinterl, Carolina
Pediatrics
Rheumatology
Systemic autoinflammatory syndromes
title_short The added value of a multidisciplinary clinic for systemic autoinflammatory diseases
title_full The added value of a multidisciplinary clinic for systemic autoinflammatory diseases
title_fullStr The added value of a multidisciplinary clinic for systemic autoinflammatory diseases
title_full_unstemmed The added value of a multidisciplinary clinic for systemic autoinflammatory diseases
title_sort The added value of a multidisciplinary clinic for systemic autoinflammatory diseases
author Zinterl, Carolina
author_facet Zinterl, Carolina
Costa Reis, Patricia
Esteves, Isabel Castro
Marques, José
Sousa, Ana Berta
Fonseca, João Eurico
Oliveira Ramos, Filipa
author_role author
author2 Costa Reis, Patricia
Esteves, Isabel Castro
Marques, José
Sousa, Ana Berta
Fonseca, João Eurico
Oliveira Ramos, Filipa
author2_role author
author
author
author
author
author
dc.contributor.none.fl_str_mv Repositório da Universidade de Lisboa
dc.contributor.author.fl_str_mv Zinterl, Carolina
Costa Reis, Patricia
Esteves, Isabel Castro
Marques, José
Sousa, Ana Berta
Fonseca, João Eurico
Oliveira Ramos, Filipa
dc.subject.por.fl_str_mv Pediatrics
Rheumatology
Systemic autoinflammatory syndromes
topic Pediatrics
Rheumatology
Systemic autoinflammatory syndromes
description © 2022 The Author(s). This work is published and licensed by Dove Medical Press Limited. The full terms of this license are available at https://www.dovepress.com/terms.php and incorporate the Creative Commons Attribution - Non Commercial (unported, v3.0) License. By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms.
publishDate 2022
dc.date.none.fl_str_mv 2022
2022-01-01T00:00:00Z
2023-06-09T13:41:08Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://hdl.handle.net/10451/58141
url http://hdl.handle.net/10451/58141
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv J Multidiscip Healthc. 2022 May 4;15:999-1010
10.2147/JMDH.S351546
1178-2390
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Dove Press
publisher.none.fl_str_mv Dove Press
dc.source.none.fl_str_mv reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron:RCAAP
instname_str Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
instacron_str RCAAP
institution RCAAP
reponame_str Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
collection Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
repository.name.fl_str_mv Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação
repository.mail.fl_str_mv
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