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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2018; 76(09): 609-621
DOI: 10.1590/0004-282X20180094
Consensus

Brazilian consensus for diagnosis, management and treatment of transthyretin familial amyloid polyneuropathy

Consenso Brasileiro para o diagnóstico, manejo e tratamento da Polineuropatia Amiloidótica Familiar associada à Transtirretina
Marcus Vinicius Pinto
1   Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Centro de Estudos em Paramiloidose Antçnio Rodrigues de Mello, Rio de Janeiro RJ, Brasil;
,
Amilton Antunes Barreira
2   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brasil;
,
Acary Souza Bulle
3   Universidade Federal de São Paulo, Escola Paulista de Medicina, São Paulo SP, Brasil;
,
Marcos Raimundo Gomes de Freitas
1   Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Centro de Estudos em Paramiloidose Antçnio Rodrigues de Mello, Rio de Janeiro RJ, Brasil;
,
Marcondes Cavalcante França Jr
4   Universidade de Campinas, Faculdade de Ciências Médicas, Campinas SP, Brasil;
,
Francisco de Assis Aquino Gondim
5   Universidade Federal do Ceará, Faculdade de Medicina, Fortaleza CE, Brasil;
6   Centro Universitário Unichristus, Fortaleza CE, Brasil;
,
Carlo Domenico Marrone
7   Clínica Marrone e Ambulatório de Doenças Neuromusculares do Hospital São Lucas da PUCRS, Porto Alegre RS, Brasil;
,
Wilson Marques Jr
2   Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brasil;
,
Osvaldo J. M. Nascimento
8   Universidade Federal Fluminense, Niterói RJ, Brasil;
,
Francisco Tellechea Rotta
9   Hospital Moinhos de Vento e Santa Casa de Misericórdia de Porto Alegre, Porto Alegre RS, Brasil.
Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, RS, Brasil
,
Camila Pupe
8   Universidade Federal Fluminense, Niterói RJ, Brasil;
,
Márcia Waddington-Cruz
1   Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Centro de Estudos em Paramiloidose Antçnio Rodrigues de Mello, Rio de Janeiro RJ, Brasil;
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ABSTRACT

Transthyretin familial amyloid polyneuropathy is an autosomal dominant inherited sensorimotor and autonomic polyneuropathy, which if untreated, leads to death in approximately 10 years. In Brazil, liver transplant and tafamidis are the only disease-modifying treatments available. This review consists of a consensus for the diagnosis, management and treatment for transthyretin familial amyloid polyneuropathy from the Peripheral Neuropathy Scientific Department of the Brazilian Academy of Neurology. The first and last authors produced a draft summarizing the main views on the subject and emailed the text to 10 other specialists. Relevant literature on this subject was reviewed by each participant and used for the individual review of the whole text. Each participant was expected to review the text and send a feedback review by e-mail. Thereafter, the 12 panelists got together at the city of Fortaleza, discussed the controversial points, and reached a consensus for the final text.

RESUMO

Polineuropatia amiloidótica familiar é uma polineuropatia sensitivo-motora e autonçmica de herança autossçmica dominante, que caso não seja tratada leva a morte em aproximadamente 10 anos. O transplante de fígado e o tafamidis são os únicos tratamentos disponíveis no Brasil. Essa revisão consiste em um consenso do Departamento Científico de Neuropatias Periféricas da Academia Brasileira de Neurologia. O primeiro e último autores produziram um texto resumindo os principais aspectos sobre o tema e enviaram para os outros 10 especialistas por email. A literatura relevante sobre o assunto foi revisada por cada participante e utilizada para revisão individual do texto. Foi esperado que cada participante revisasse o texto e enviasse suas sugestões por e-mail. Finalmente, os 12 panelistas se encontraram na cidade de Fortaleza para discutir os pontos controversos e chegar a um consenso sobre texto final.

Keywords:

amyloid neuropathies, familial - polyneuropathies

Palavras-chave:

neuropatias amiloides familiares - polineuropatias

NOTE

Due to recent publication of two randomized clinical trials (RCTs) in ATTR-FAP[11],[12] the authors agreed to add the results of these studies in this manuscript, which were published after the consensus. A consensus was reached for the final text, and all authors approved the final version of the manuscript.


Support

Pfizer indirectly supported this consensus meeting, being one of the sponsors of the “1° Encontro Brasileiro de Neuropatias Perifericas” (First Brazilian Symposium on peripheral neuropathies) hosted in Fortaleza, Brazil, June 1-4, 2017.




Publication History

Received: 21 December 2017

Accepted: 30 August 2018

Article published online:
22 August 2023

© 2023. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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