Cruz Márcia Waddington, Pinto Marcus Vinicius, Pinto Luiz Felipe, Gervais Renata, Dias Moisés, Perez Carlos, Mundayat Rajiv, Ong Moh-Lim, Pedrosa Roberto Coury, Foguel Débora
Universidade Federal do Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Centro de Estudos em Paramiloidose Antônio Rodrigues de Mello.
Pfizer Inc., New York, USA.
Arq Neuropsiquiatr. 2019 Feb;77(2):96-100. doi: 10.1590/0004-282X20180156.
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).
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).
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.
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.
转甲状腺素蛋白淀粉样变性（ATTR）的特征是突变型或野生型转甲状腺素蛋白沉积，形成淀粉样纤维，这些纤维在组织和器官的细胞外沉积。家族性淀粉样多神经病的临床表现因突变、发病年龄和地理位置而异。本研究旨在描述参与转甲状腺素蛋白淀粉样变性结果调查（THAOS）的巴西转甲状腺素蛋白家族性淀粉样多神经病（ATTR-FAP）患者的基线疾病特征。
THAOS是一项国际性、非干预性、纵向、观察性、基于网络的注册研究，旨在描述ATTR的特征。结局指标包括人口统计学特征（症状发作年龄、性别、从症状发作到诊断的时间、家族史）、基因型和临床特征（淀粉样沉积物的存在、误诊频率、首发症状）。分析基于巴西患者的数据集（2008年11月至2016年1月）。
160名参与者（52.5%为男性）纳入分析。大多数参与者（90.6%）报告有ATTR-FAP家族史。症状发作的中位年龄为32.5岁。91.9%发现Val30Met突变。26.6%的有症状患者存在误诊。超过三分之一（35.3%）的误诊患者在获得正确诊断前经历了一年以上的延迟。就诊时，79.7%的患者有运动症状，87.5%有感觉症状，93.8%有自主神经症状。
巴西的ATTR-FAP发病早，家族史强，大多数有Val30Met突变。误诊常见，最常见的表现是感觉运动和自主神经病变。
