Losada López Inés, Gonzalez-Moreno Juan, Buades Reinés Juan, Sevilla Teresa, Martinez Valle Fernando, Galán Dávila Lucía, Muñoz Beamud Francisco, Bárcena Llona José Eulalio, Romero Acebal Manuel, Tarilonte Patricia, Setaro Francesca
Internal Medicine Department, Hospital Universitario Son Llàtzer, Palma de Mallorca, 07198 Palma, Spain.
Balearic Research Group in Genetic Cardiopathies, Sudden Death and TTR Amyloidosis, Instituto de Investigación Sanitaria de las Islas Baleares (IdISBa), 07198 Palma, Spain.
J Clin Med. 2024 Dec 13;13(24):7587. doi: 10.3390/jcm13247587.
Hereditary transthyretin amyloidosis (ATTRv) is an autosomal-dominant systemic disease, where amyloid fibrils accumulate especially in the peripheral and autonomic nervous systems and in the heart. The aim of the present work was to outline the follow-up and type of management received by asymptomatic carriers (ACs) and stage 1 ATTRv patients in Spain. A cross-sectional, non-interventional study was conducted throughout seven experienced hospitals in Spain. A total of 86 ACs without neurological symptoms and 19 stage 1 ATTRv patients diagnosed 12 months before their enrollment were included. Clinical and demographic data, red flags, and neurological and cardiological evaluations were gathered. In addition, site variables were collected from four centers to describe the clinical management of ATTRv. ATTRv clinical management varied depending on the center setting but was primarily overseen by neurology and internal medicine, which were responsible for the holistic follow-up of ACs and patients. Routinely, neurologists, neurophysiologists, cardiologists, and internal medicine conducted the follow-up. Specialties involved in initial AC assessment were neurophysiologists and cardiologists in 100% of cases, neurologists (75%), internists and geneticists (50%), and ophthalmologists (25%). A review of the medical tests performed proved an exhaustive management of the study population. Stable patients were followed up every 6 months, while those under evolution were monitored every 3-6 months. The frequency of monitoring of ACs was annual, and carriers classified with doubtful disease onset were visited every 3-6 months. The EMPATIa study provides valuable insights into the management of ATTRv in a real-world clinical setting in highly experienced hospitals in Spain. It demonstrates that multidisciplinary practice and enhanced disease awareness may lead to a reduction in diagnostic delay.
遗传性转甲状腺素蛋白淀粉样变性（ATTRv）是一种常染色体显性全身性疾病，其中淀粉样原纤维尤其在周围和自主神经系统以及心脏中积聚。本研究的目的是概述西班牙无症状携带者（AC）和1期ATTRv患者的随访情况及管理类型。在西班牙七家经验丰富的医院开展了一项横断面非干预性研究。纳入了86名无神经症状的AC以及19名在入组前12个月被诊断为1期ATTRv的患者。收集了临床和人口统计学数据、警示信号以及神经和心脏评估结果。此外，从四个中心收集了地点变量，以描述ATTRv的临床管理情况。ATTRv的临床管理因中心设置而异，但主要由神经科和内科监督，它们负责对AC和患者进行全面随访。通常，神经科医生、神经生理学家、心脏病专家和内科医生进行随访。在初始AC评估中涉及的专业，100%的病例为神经生理学家和心脏病专家，75%为神经科医生，50%为内科医生和遗传学家，25%为眼科医生。对所进行的医学检查的回顾证明了对研究人群的详尽管理。病情稳定的患者每6个月随访一次，而病情进展的患者每3至6个月监测一次。AC的监测频率为每年一次，对疾病发病存疑的携带者每3至6个月进行一次访视。EMPATIa研究为西班牙经验丰富的医院在真实临床环境中管理ATTRv提供了宝贵见解。它表明多学科实践和提高疾病认知度可能会减少诊断延迟。
