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CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2019; 77(02): 96-100
DOI: 10.1590/0004-282X20180156
Article

Baseline disease characteristics in Brazilian patients enrolled in Transthyretin Amyloidosis Outcome Survey (THAOS)

Características da polineuropatia amiloidotica familiar ligada à transtirretina em pacientes brasileiros participantes do “Transthyretin Amyloidosis Outcome Survey (THAOS)”
Márcia Waddington Cruz 
1   Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Centro de Estudos em Paramiloidose Antçnio Rodrigues de Mello
,
Marcus Vinicius Pinto
1   Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Centro de Estudos em Paramiloidose Antçnio Rodrigues de Mello
,
Luiz Felipe Pinto
1   Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Centro de Estudos em Paramiloidose Antçnio Rodrigues de Mello
,
Renata Gervais
1   Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Centro de Estudos em Paramiloidose Antçnio Rodrigues de Mello
,
Moisés Dias
1   Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Centro de Estudos em Paramiloidose Antçnio Rodrigues de Mello
,
Carlos Perez
1   Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Centro de Estudos em Paramiloidose Antçnio Rodrigues de Mello
,
Rajiv Mundayat
2   Pfizer Inc., New York, USA
,
Moh-Lim Ong
2   Pfizer Inc., New York, USA
,
Roberto Coury Pedrosa
1   Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Centro de Estudos em Paramiloidose Antçnio Rodrigues de Mello
,
Débora Foguel
1   Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Centro de Estudos em Paramiloidose Antçnio Rodrigues de Mello
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ABSTRACT

Transthyretin amyloidosis (ATTR) is characterized by the deposit of mutant or wild-type transthyretin that forms amyloid fibrils, which are extracellularly deposited within tissues and organs. Clinical manifestations of familial amyloid polyneuropathy vary according to the mutation, age at onset and geographical location. This study aimed to describe baseline disease characteristics of Brazilian patients with transthyretin familial amyloid polyneuropathy (ATTR-FAP) enrolled in the Transthyretin Amyloidosis Outcome Survey (THAOS). Methods: The THAOS is an international, noninterventional, longitudinal, observational, web-based registry designed to characterize ATTR. The outcome measures included demographics (age at symptom onset, gender, time from onset of symptoms to diagnosis, family history), genotype, and clinical characteristics (presence of amyloid deposit, frequency of misdiagnosis, presenting symptomatology). The analysis was conducted in a dataset from Brazilian patients (from November 2008 to January 2016). Results: One hundred and sixty participants (52.5% male) were included in the analysis. The majority of participants (90.6%) reported a positive family history of ATTR-FAP Median age at symptom onset was 32.5 years. Val30Met mutation was found in 91.9%. Misdiagnosis was observed in 26.6% of symptomatic patients. Over one-third (35.3%) of the misdiagnosed patients experienced a delay of more than one year before receiving a correct diagnosis. At presentation, 79.7% of the patients had motor, 87.5% sensory and 93.8% autonomic symptoms. Conclusion: ATTR-FAP in Brazil starts early, has a strong family history and the majority has Val30Met mutation. Misdiagnosis is common and the most common presentation is of a sensorimotor and autonomic neuropathy.

RESUMO

Amiloidose ligada à transtirretina (ATTR) é caracterizada por depósito de transtirretina que forma fibrilas amiloides, que são depositadas extracelularmente dentro de tecidos e órgãos. As manifestações clínicas de polineuropatia amiloidótica familiar (ATTR-PAF) variam de acordo com a mutação, idade de início e localização geográfica. Este estudo tem como objetivo descrever as características dos pacientes com ATTR no Brasil, com base nos dados coletados no THAOS. Métodos: THAOS é um registro internacional longitudinal observacional desenhado para caracterizar ATTR. As medidas de desfecho incluíram dados demográficos (idade do início dos sintomas, gênero, tempo do início dos sintomas até diagnóstico, histórico familiar), genotipagem e características clínicas (presença de depósito amiloide, frequências de diagnósticos errçneos, sintomatologia presente). Esta analise foi conduzida com dados de pacientes brasileiros registrados no THAOS de Novembro 2008 a Janeiro de 2016. Resultado: Cento e sessenta pacientes (52,5% homens) foram incluídos na análise. Na maioria dos casos (90,6%) observou-se história familiar positiva de ATTR-FAP A idade média de inicio dos sintomas foi 32,5 anos. A mutação Val30Met foi encontrada em 91,9%. Erros diagnósticos foram observados em 26,6% dos casos sintomáticos. Aproximadamente um terço dos pacientes diagnosticados erroneamente tiveram atraso de mais de um ano para receber um diagnostico correto. No momento do diagnóstico 79,7% dos pacientes possuíam sintomas motores, 87,5% sintomas sensitivos e 93,8% sintomas autonçmicos. Conclusão: No brasil a ATTR-FAP tem início precoce, historia familiar fortemente positiva e em sua maioria são portadores da mutação Val30Met. Erros diagnósticos são comuns e a apresentação mais comum é polineuropatia sensitivo-motora com disautonomia.

Keywords:

Amyloidosis - amyloid neuropathies, familial - polyneuropathy

Palavras-chave:

Amiloidose - neuropatias amiloides familiares - polineuropatias

Support

This study was funded by Pfizer Inc. Editorial support was provided by Roberta Trefiglio and was funded by Pfizer Inc.




Publication History

Received: 09 August 2018

Accepted: 23 October 2018

Article published online:
21 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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