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CC BY 4.0 · Arq Neuropsiquiatr 2023; 81(03): 308-321
DOI: 10.1055/s-0043-1764412
Brazilian Academy of Neurology

Brazilian consensus for diagnosis, management and treatment of hereditary transthyretin amyloidosis with peripheral neuropathy: second edition

Consenso brasileiro para o diagnóstico, manejo e tratamento da polineuropatia amiloidótica familiar associada à transtirretina: segunda edição
Marcus Vinicius Pinto 
1   Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Centro de Estudos em Paramiloidose Antônio Rodrigues de Mello, Rio de Janeiro RJ, Brazil.
2   Mayo Clinic, Department of Neurology, Rochester, Minnesota, United States.
,
Marcondes Cavalcante França  Jr
3   Universidade de Campinas, Faculdade de Ciências Médicas, Campinas SP, Brazil.
,
Marcus Vinicius Magno Gonçalves 
4   Universidade Univalle, Joinville SC, Brazil.
,
Marcela Câmara Machado-Costa 
5   Escola Bahiana de Medicina e Saúde Pública, Salvador, BA, Brazil.
,
Marcos Raimundo Gomes de Freitas 
1   Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Centro de Estudos em Paramiloidose Antônio Rodrigues de Mello, Rio de Janeiro RJ, Brazil.
,
Francisco de Assis Aquino Gondim 
6   Universidade Federal do Ceará, Faculdade de Medicina, Fortaleza CE, Brazil.
,
Carlo Domenico Marrone 
7   Pontifícia Universidade Católica do Rio Grande do Sul, Hospital São Lucas, Clínica Marrone e Ambulatório de Doenças Neuromusculare, Porto Alegre RS, Brazil.
,
Alberto Rolim Muro Martinez 
3   Universidade de Campinas, Faculdade de Ciências Médicas, Campinas SP, Brazil.
,
Carolina Lavigne Moreira 
8   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.
,
Osvaldo J. M. Nascimento 
9   Universidade Federal Fluminense, Niterói RJ, Brazil.
,
Anna Paula Paranhos Covaleski 
10   Universidade Federal de Pernambuco, Hospital das Clínicas, Recife PE, Brazil.
,
Acary Souza Bulle de Oliveira 
11   Universidade Federal de São Paulo, Escola Paulista de Medicina, São Paulo SP, Brazil.
,
Camila Castelo Branco Pupe 
9   Universidade Federal Fluminense, Niterói RJ, Brazil.
,
Marcia Maria Jardim Rodrigues 
12   Fundação Oswaldo Cruz, Rio de Janeiro RJ, Brazil.
,
Francisco Tellechea Rotta 
13   Hospital Moinhos de Vento, Porto Alegre RS, Brazil.
14   Santa Casa de Misericórdia de Porto Alegre, Porto Alegre RS, Brazil.
,
Rosana Herminia Scola 
15   Universidade Federal do Paraná, Faculdade de Medicina, Curitiba PR, Brazil.
,
Wilson Marques  Jr
8   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brazil.
,
Márcia Waddington-Cruz 
1   Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Centro de Estudos em Paramiloidose Antônio Rodrigues de Mello, Rio de Janeiro RJ, Brazil.
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Abstract

Hereditary transthyretin amyloidosis with peripheral neuropathy (ATTRv-PN) is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy with over 130 pathogenic variants identified in the TTR gene. Hereditary transthyretin amyloidosis with peripheral neuropathy is a disabling, progressive and life-threatening genetic condition that leads to death in ∼ 10 years if untreated. The prospects for ATTRv-PN have changed in the last decades, as it has become a treatable neuropathy. In addition to liver transplantation, initiated in 1990, there are now at least 3 drugs approved in many countries, including Brazil, and many more are being developed. The first Brazilian consensus on ATTRv-PN was held in the city of Fortaleza, Brazil, in June 2017. Given the new advances in the area over the last 5 years, the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology organized a second edition of the consensus. Each panelist was responsible for reviewing the literature and updating a section of the previous paper. Thereafter, the 18 panelists got together virtually after careful review of the draft, discussed each section of the text, and reached a consensus for the final version of the manuscript.

Resumo

Polineuropatia amiloidótica familiar associada a transtirretina (ATTRv-PN) é uma polineuropatia sensitivo-motora e autonômica hereditária autossômica dominante com mais de 130 variantes patogênicas já identificadas no gene TTR. A ATTRv-PN é uma condição genética debilitante, progressiva e que ameaça a vida, levando à morte em ∼ 10 anos se não for tratada. Nas últimas décadas, a ATTRv-PN se tornou uma neuropatia tratável. Além do transplante de fígado, iniciado em 1990, temos agora 3 medicamentos modificadores de doença aprovados em muitos países, incluindo o Brasil, e muitas outras medicações estão em desenvolvimento. O primeiro consenso brasileiro em ATTRv-PN foi realizado em Fortaleza em junho de 2017. Devido aos novos avanços nesta área nos últimos 5 anos, o Departamento Científico de Neuropatias Periféricas da Academia Brasileira de Neurologia organizou uma segunda edição do consenso. Cada panelista ficou responsável por rever a literatura e atualizar uma parte do manuscrito. Finalmente, os 18 panelistas se reuniram virtualmente após revisão da primeira versão, discutiram cada parte do artigo e chegaram a um consenso sobre a versão final do manuscrito.

Keywords

Amyloidosis - Peripheral Nervous System Diseases - Amyloid Neuropathies, Familial

Palavras-chave

Amiloidoses - Doenças do Sistema Nervoso Periférico - Neuropatias Amiloides Familiares

Authors' Contibutions

MVP, MVG, MCFJ: original draft, manuscript review and editing, these authors contributed equally to this work as co-first authors; WMJ and MWC: manuscript review, editing and supervision, these authors contributed equally to this work as co-senior authors; The other authors contributed equally to the writing of the manuscript, review and editing.




Publication History

Received: 17 October 2022

Accepted: 27 October 2022

Article published online:
14 April 2023

© 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution 4.0 International License, permitting copying and reproduction so long as the original work is given appropriate credit (https://creativecommons.org/licenses/by/4.0/)

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