Guideline of transthyretin-related hereditary amyloidosis for clinicians
Autor(a) principal: | |
---|---|
Data de Publicação: | 2013 |
Outros Autores: | , , , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | http://hdl.handle.net/10400.16/1608 |
Resumo: | Transthyretin amyloidosis is a progressive and eventually fatal disease primarily characterized by sensory, motor, and autonomic neuropathy and/or cardiomyopathy. Given its phenotypic unpredictability and variability, transthyretin amyloidosis can be difficult to recognize and manage. Misdiagnosis is common, and patients may wait several years before accurate diagnosis, risking additional significant irreversible deterioration. This article aims to help physicians better understand transthyretin amyloidosis—and, specifically, familial amyloidotic polyneuropathy—so they can recognize and manage the disease more easily and discuss it with their patients. We provide guidance on making a definitive diagnosis, explain methods for disease staging and evaluation of disease progression, and discuss symptom mitigation and treatment strategies, including liver transplant and several pharmacyotherapies that have shown promise in clinical trials. |
id |
RCAP_8c00ed3bcaa86516b224ad16416c2d85 |
---|---|
oai_identifier_str |
oai:repositorio.chporto.pt:10400.16/1608 |
network_acronym_str |
RCAP |
network_name_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository_id_str |
7160 |
spelling |
Guideline of transthyretin-related hereditary amyloidosis for cliniciansAmyloidosisPolyneuropathyCardiomyopathyOculoleptomeningealTransthyretinLiver transplantGeneticsTransthyretin amyloidosis is a progressive and eventually fatal disease primarily characterized by sensory, motor, and autonomic neuropathy and/or cardiomyopathy. Given its phenotypic unpredictability and variability, transthyretin amyloidosis can be difficult to recognize and manage. Misdiagnosis is common, and patients may wait several years before accurate diagnosis, risking additional significant irreversible deterioration. This article aims to help physicians better understand transthyretin amyloidosis—and, specifically, familial amyloidotic polyneuropathy—so they can recognize and manage the disease more easily and discuss it with their patients. We provide guidance on making a definitive diagnosis, explain methods for disease staging and evaluation of disease progression, and discuss symptom mitigation and treatment strategies, including liver transplant and several pharmacyotherapies that have shown promise in clinical trials.BioMed CentralRepositório Científico do Centro Hospitalar Universitário de Santo AntónioAndo, Y.Coelho, T.Berk, J.Cruz, M.Ericzon, B.Ikeda, S.Lewis, W.Obici, L.Planté-Bordeneuve, V.Rapezzi, C.Said, G.Salvi, F.2014-06-03T11:39:05Z20132013-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.16/1608engOrphanet Journal of Rare Diseases 2013, 8:311750-1172info: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:RCAAP2023-10-20T10:56:43Zoai:repositorio.chporto.pt:10400.16/1608Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T20:37:59.953071Repositório 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 |
Guideline of transthyretin-related hereditary amyloidosis for clinicians |
title |
Guideline of transthyretin-related hereditary amyloidosis for clinicians |
spellingShingle |
Guideline of transthyretin-related hereditary amyloidosis for clinicians Ando, Y. Amyloidosis Polyneuropathy Cardiomyopathy Oculoleptomeningeal Transthyretin Liver transplant Genetics |
title_short |
Guideline of transthyretin-related hereditary amyloidosis for clinicians |
title_full |
Guideline of transthyretin-related hereditary amyloidosis for clinicians |
title_fullStr |
Guideline of transthyretin-related hereditary amyloidosis for clinicians |
title_full_unstemmed |
Guideline of transthyretin-related hereditary amyloidosis for clinicians |
title_sort |
Guideline of transthyretin-related hereditary amyloidosis for clinicians |
author |
Ando, Y. |
author_facet |
Ando, Y. Coelho, T. Berk, J. Cruz, M. Ericzon, B. Ikeda, S. Lewis, W. Obici, L. Planté-Bordeneuve, V. Rapezzi, C. Said, G. Salvi, F. |
author_role |
author |
author2 |
Coelho, T. Berk, J. Cruz, M. Ericzon, B. Ikeda, S. Lewis, W. Obici, L. Planté-Bordeneuve, V. Rapezzi, C. Said, G. Salvi, F. |
author2_role |
author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório Científico do Centro Hospitalar Universitário de Santo António |
dc.contributor.author.fl_str_mv |
Ando, Y. Coelho, T. Berk, J. Cruz, M. Ericzon, B. Ikeda, S. Lewis, W. Obici, L. Planté-Bordeneuve, V. Rapezzi, C. Said, G. Salvi, F. |
dc.subject.por.fl_str_mv |
Amyloidosis Polyneuropathy Cardiomyopathy Oculoleptomeningeal Transthyretin Liver transplant Genetics |
topic |
Amyloidosis Polyneuropathy Cardiomyopathy Oculoleptomeningeal Transthyretin Liver transplant Genetics |
description |
Transthyretin amyloidosis is a progressive and eventually fatal disease primarily characterized by sensory, motor, and autonomic neuropathy and/or cardiomyopathy. Given its phenotypic unpredictability and variability, transthyretin amyloidosis can be difficult to recognize and manage. Misdiagnosis is common, and patients may wait several years before accurate diagnosis, risking additional significant irreversible deterioration. This article aims to help physicians better understand transthyretin amyloidosis—and, specifically, familial amyloidotic polyneuropathy—so they can recognize and manage the disease more easily and discuss it with their patients. We provide guidance on making a definitive diagnosis, explain methods for disease staging and evaluation of disease progression, and discuss symptom mitigation and treatment strategies, including liver transplant and several pharmacyotherapies that have shown promise in clinical trials. |
publishDate |
2013 |
dc.date.none.fl_str_mv |
2013 2013-01-01T00:00:00Z 2014-06-03T11:39:05Z |
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/10400.16/1608 |
url |
http://hdl.handle.net/10400.16/1608 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Orphanet Journal of Rare Diseases 2013, 8:31 1750-1172 |
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 |
BioMed Central |
publisher.none.fl_str_mv |
BioMed Central |
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 |
|
_version_ |
1799133641993879552 |