Red-flag symptom clusters in transthyretin familial amyloid polyneuropathy

Detalhes bibliográficos
Autor(a) principal: Conceição, isabel
Data de Publicação: 2016
Outros Autores: González-Duarte, Alejandra, Obici, Laura, Schmidt, Hartmut H-J, Simoneau, Damien, Ong, Moh-Lim, Amass, Leslie
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10451/48431
Resumo: © 2015 The Authors. Journal of the Peripheral Nervous System published by Wiley Periodicals, Inc. on behalf of Peripheral Nerve Society. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
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spelling Red-flag symptom clusters in transthyretin familial amyloid polyneuropathyDiagnosisHereditary amyloidosisTransthyretinTransthyretin familial amyloid neuropathy© 2015 The Authors. Journal of the Peripheral Nervous System published by Wiley Periodicals, Inc. on behalf of Peripheral Nerve Society. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare, progressive, life-threatening, hereditary disorder caused by mutations in the transthyretin gene and characterized by extracellular deposition of transthyretin-derived amyloid fibrils in peripheral and autonomic nerves, heart, and other organs. TTR-FAP is frequently diagnosed late because the disease is difficult to recognize due to phenotypic heterogeneity. Based on published literature and expert opinion, symptom clusters suggesting TTR-FAP are reviewed, and practical guidance to facilitate earlier diagnosis is provided. TTR-FAP should be suspected if progressive peripheral sensory-motor neuropathy is observed in combination with one or more of the following: family history of a neuropathy, autonomic dysfunction, cardiac hypertrophy, gastrointestinal problems, inexplicable weight loss, carpal tunnel syndrome, renal impairment, or ocular involvement. If TTR-FAP is suspected, transthyretin genotyping, confirmation of amyloid in tissue biopsy, large- and small-fiber assessment by nerve conduction studies and autonomic system evaluations, and cardiac testing should be performed.John Wiley & Sons, Inc.Repositório da Universidade de LisboaConceição, isabelGonzález-Duarte, AlejandraObici, LauraSchmidt, Hartmut H-JSimoneau, DamienOng, Moh-LimAmass, Leslie2021-06-09T12:44:50Z2016-032016-03-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/48431engJ Peripher Nerv Syst. 2016 Mar;21(1):5-91085-948910.1111/jns.121531529-8027info: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:RCAAP2023-11-08T16:51:50Zoai:repositorio.ul.pt:10451/48431Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:00:19.666272Repositório 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 Red-flag symptom clusters in transthyretin familial amyloid polyneuropathy
title Red-flag symptom clusters in transthyretin familial amyloid polyneuropathy
spellingShingle Red-flag symptom clusters in transthyretin familial amyloid polyneuropathy
Conceição, isabel
Diagnosis
Hereditary amyloidosis
Transthyretin
Transthyretin familial amyloid neuropathy
title_short Red-flag symptom clusters in transthyretin familial amyloid polyneuropathy
title_full Red-flag symptom clusters in transthyretin familial amyloid polyneuropathy
title_fullStr Red-flag symptom clusters in transthyretin familial amyloid polyneuropathy
title_full_unstemmed Red-flag symptom clusters in transthyretin familial amyloid polyneuropathy
title_sort Red-flag symptom clusters in transthyretin familial amyloid polyneuropathy
author Conceição, isabel
author_facet Conceição, isabel
González-Duarte, Alejandra
Obici, Laura
Schmidt, Hartmut H-J
Simoneau, Damien
Ong, Moh-Lim
Amass, Leslie
author_role author
author2 González-Duarte, Alejandra
Obici, Laura
Schmidt, Hartmut H-J
Simoneau, Damien
Ong, Moh-Lim
Amass, Leslie
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 Conceição, isabel
González-Duarte, Alejandra
Obici, Laura
Schmidt, Hartmut H-J
Simoneau, Damien
Ong, Moh-Lim
Amass, Leslie
dc.subject.por.fl_str_mv Diagnosis
Hereditary amyloidosis
Transthyretin
Transthyretin familial amyloid neuropathy
topic Diagnosis
Hereditary amyloidosis
Transthyretin
Transthyretin familial amyloid neuropathy
description © 2015 The Authors. Journal of the Peripheral Nervous System published by Wiley Periodicals, Inc. on behalf of Peripheral Nerve Society. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made.
publishDate 2016
dc.date.none.fl_str_mv 2016-03
2016-03-01T00:00:00Z
2021-06-09T12:44:50Z
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/10451/48431
url http://hdl.handle.net/10451/48431
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv J Peripher Nerv Syst. 2016 Mar;21(1):5-9
1085-9489
10.1111/jns.12153
1529-8027
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 John Wiley & Sons, Inc.
publisher.none.fl_str_mv John Wiley & Sons, Inc.
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
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