Parman Yesim, Adams David, Obici Laura, Galán Lucía, Guergueltcheva Velina, Suhr Ole B, Coelho Teresa
aDepartment of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey bCHU Bicêtre, Université Paris-Sud, Paris, France cAmyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy dServicio de Neurología, Hospital Clínico San Carlos, Madrid, Spain eUniversity Hospital Sofiamed, Sofia, Bulgaria fDepartment of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden gHospital Santo António, Centro Hospitalar do Porto, Porto, Portugal.
Curr Opin Neurol. 2016 Feb;29 Suppl 1(Suppl 1):S3-S13. doi: 10.1097/WCO.0000000000000288.
Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a highly disabling, life-threatening disease characterized by progressive sensorimotor and autonomic neuropathy. The profile of the disease across Europe is inadequately understood at present.
The incidence and clinical presentation of TTR-FAP varies widely within Europe, with early and late-onset disease subtypes. In those regions in which the disease is endemic (Portugal, Sweden, Cyprus, and Majorca), a Val30Met substitution in the TTR gene is the predominant genetic cause, whereas in the rest of Europe, cases of TTR-FAP are mainly sporadic with genetic heterogeneity. Current management strategies lack cohesion and patients can experience years of misdiagnosis and suboptimal treatment.
The article aims to disseminate the findings and recommendations from two recent meetings of the European Network for TTR-FAP (ATTReuNET), a panel comprising representatives from 10 European countries (Bulgaria, Cyprus, France, Germany, Italy, the Netherlands, Portugal, Spain, Sweden, and Turkey) with expertise in the diagnosis and management of TTR-FAP. We explore the epidemiology and genetic mark of TTR-FAP across Europe and assess current management strategies, with a view to developing an alternative framework - a networked approach to disease management with an emphasis on collaboration and sharing of best practice.
转甲状腺素蛋白家族性淀粉样多神经病（TTR-FAP）是一种严重致残、危及生命的疾病，其特征为进行性感觉运动和自主神经病变。目前对该疾病在欧洲的整体情况了解不足。
TTR-FAP在欧洲的发病率和临床表现差异很大，存在早发型和晚发型疾病亚型。在该病为地方病的地区（葡萄牙、瑞典、塞浦路斯和马略卡岛），TTR基因中的Val30Met替代是主要的遗传病因，而在欧洲其他地区，TTR-FAP病例主要为散发且具有遗传异质性。当前的管理策略缺乏连贯性，患者可能多年被误诊且治疗效果欠佳。
本文旨在传播欧洲TTR-FAP网络（ATTReuNET）最近两次会议的研究结果和建议，该小组由来自10个欧洲国家（保加利亚、塞浦路斯、法国、德国、意大利、荷兰、葡萄牙、西班牙、瑞典和土耳其）的代表组成，他们在TTR-FAP的诊断和管理方面具有专业知识。我们探讨了欧洲TTR-FAP的流行病学和遗传特征，并评估了当前的管理策略，以期建立一个替代框架——一种强调协作和最佳实践共享的网络化疾病管理方法。
