Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis

Detalhes bibliográficos
Autor(a) principal: Carroll, Antonia
Data de Publicação: 2022
Outros Autores: Dyck, P. James, Carvalho, Mamede, Kennerson, Marina, Reilly, Mary M., Kiernan, Matthew C., Vucic, Steve
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Texto Completo: http://hdl.handle.net/10451/53341
Resumo: © Author(s) (or their employer(s)) 2022. Open access This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0
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spelling Novel approaches to diagnosis and management of hereditary transthyretin amyloidosisAmyloidNeuropathy© Author(s) (or their employer(s)) 2022. Open access This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0Hereditary transthyretin amyloidosis (ATTRv) is a severe, adult-onset autosomal dominant inherited systemic disease predominantly affecting the peripheral and autonomic nervous system, heart, kidney and the eyes. ATTRv is caused by mutations of the transthyretin (TTR) gene, leading to extracellular deposition of amyloid fibrils in multiple organs including the peripheral nervous system. Typically, the neuropathy associated with ATTRv is characterised by a rapidly progressive and disabling sensorimotor axonal neuropathy with early small-fibre involvement. Carpal tunnel syndrome and cardiac dysfunction frequently coexist as part of the ATTRv phenotype. Although awareness of ATTRv polyneuropathy among neurologists has increased, the rate of misdiagnosis remains high, resulting in significant diagnostic delays and accrued disability. A timely and definitive diagnosis is important, given the emergence of effective therapies which have revolutionised the management of transthyretin amyloidosis. TTR protein stabilisers diflunisal and tafamidis can delay the progression of the disease, if treated early in the course. Additionally, TTR gene silencing medications, patisiran and inotersen, have resulted in up to 80% reduction in TTR production, leading to stabilisation or slight improvement of peripheral neuropathy and cardiac dysfunction, as well as improvement in quality of life and functional outcomes. The considerable therapeutic advances have raised additional challenges, including optimisation of diagnostic techniques and management approaches in ATTRv neuropathy. This review highlights the key advances in the diagnostic techniques, current and emerging management strategies, and biomarker development for disease progression in ATTRv.SV gratefully acknowledges funding support from the National Health and Medical Research Council (NHMRC) of Australia (project grant numbers 510233, 1024915 and 1055778; program grant number 1132524; dementia research team grant number 1095127; and Partnership Project number 1153439) and the Motor Neuron Disease Research Institute of Australia. MCK was supported by a NHMRC Practitioner Fellowship (number 1156093).BMJ Publishing Group Ltd.Repositório da Universidade de LisboaCarroll, AntoniaDyck, P. JamesCarvalho, MamedeKennerson, MarinaReilly, Mary M.Kiernan, Matthew C.Vucic, Steve2022-06-08T14:45:38Z20222022-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10451/53341engJ Neurol Neurosurg Psychiatry 2022;93:668-6780022-305010.1136/jnnp-2021-3279091468-330Xinfo: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:RCAAP2023-11-08T16:59:03Zoai:repositorio.ul.pt:10451/53341Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T22:04:17.922948Repositório 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 Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis
title Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis
spellingShingle Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis
Carroll, Antonia
Amyloid
Neuropathy
title_short Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis
title_full Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis
title_fullStr Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis
title_full_unstemmed Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis
title_sort Novel approaches to diagnosis and management of hereditary transthyretin amyloidosis
author Carroll, Antonia
author_facet Carroll, Antonia
Dyck, P. James
Carvalho, Mamede
Kennerson, Marina
Reilly, Mary M.
Kiernan, Matthew C.
Vucic, Steve
author_role author
author2 Dyck, P. James
Carvalho, Mamede
Kennerson, Marina
Reilly, Mary M.
Kiernan, Matthew C.
Vucic, Steve
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 Carroll, Antonia
Dyck, P. James
Carvalho, Mamede
Kennerson, Marina
Reilly, Mary M.
Kiernan, Matthew C.
Vucic, Steve
dc.subject.por.fl_str_mv Amyloid
Neuropathy
topic Amyloid
Neuropathy
description © Author(s) (or their employer(s)) 2022. Open access This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0
publishDate 2022
dc.date.none.fl_str_mv 2022-06-08T14:45:38Z
2022
2022-01-01T00:00:00Z
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/10451/53341
url http://hdl.handle.net/10451/53341
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv J Neurol Neurosurg Psychiatry 2022;93:668-678
0022-3050
10.1136/jnnp-2021-327909
1468-330X
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 BMJ Publishing Group Ltd.
publisher.none.fl_str_mv BMJ Publishing Group Ltd.
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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