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

Marcus Vinicius Pinto; Amilton Antunes Barreira; Acary Souza Bulle; Marcos Raimundo Gomes de Freitas; Marcondes Cavalcante França Jr; Francisco de Assis Aquino Gondim; Carlo Domenico Marrone; Wilson Marques Jr; Osvaldo J. M. Nascimento; Francisco Tellechea Rotta; Camila Pupe; Márcia Waddington-Cruz

doi:10.1590/0004-282X20180094

Arquivos de Neuro-Psiquiatria, Table of Contents

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

Authors

Marcus Vinicius Pinto

¹Universidade 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

²Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brasil;
Acary Souza Bulle

³Universidade Federal de São Paulo, Escola Paulista de Medicina, São Paulo SP, Brasil;
Marcos Raimundo Gomes de Freitas

¹Universidade 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

⁴Universidade de Campinas, Faculdade de Ciências Médicas, Campinas SP, Brasil;
Francisco de Assis Aquino Gondim

⁵Universidade Federal do Ceará, Faculdade de Medicina, Fortaleza CE, Brasil;

⁶Centro Universitário Unichristus, Fortaleza CE, Brasil;
Carlo Domenico Marrone

⁷Clínica Marrone e Ambulatório de Doenças Neuromusculares do Hospital São Lucas da PUCRS, Porto Alegre RS, Brasil;
Wilson Marques Jr

²Universidade de São Paulo, Faculdade de Medicina de Ribeirão Preto, Ribeirão Preto SP, Brasil;
Osvaldo J. M. Nascimento

⁸Universidade Federal Fluminense, Niterói RJ, Brasil;
Francisco Tellechea Rotta

⁹Hospital 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

⁸Universidade Federal Fluminense, Niterói RJ, Brasil;
Márcia Waddington-Cruz

¹Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Centro de Estudos em Paramiloidose Antçnio Rodrigues de Mello, Rio de Janeiro RJ, Brasil;

Abstract

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

Full Text

References

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