Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP
Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP
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DOI：
10.1097/wco.0000000000000288
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发表时间：
2016-02-01
影响因子：
4.8
通讯作者：
Coelho, Teresa
中科院分区：
文献类型：
--
作者：
Parman, Yesim;Adams, David;Coelho, Teresa
综述目的甲状腺素运载蛋白家族性淀粉样多发性神经病（TTR-FAP）是一种高度致残、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。在欧洲的疾病概况是不充分的理解目前。最近的findingsThe发病率和TTR-FAP的临床表现在欧洲范围内有很大的不同，与早发性和迟发性疾病亚型。在那些疾病流行的地区（葡萄牙，瑞典，塞浦路斯和马略卡岛），TTR基因中的Val 30 Met取代是主要的遗传原因，而在欧洲其他地区，TTR-FAP病例主要是散发性的遗传异质性。目前的管理策略缺乏凝聚力和患者可能会经历多年的误诊和次优治疗。摘要本文旨在传播的结果和建议，从最近两次会议的欧洲网络TTR-FAP（ATTASENET），一个由10个欧洲国家代表组成的小组，（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），具有TTR-FAP诊断和管理方面的专业知识。我们探讨了欧洲TTR-FAP的流行病学和遗传标记，并评估了目前的管理策略，以期制定一个替代框架-一个网络化的疾病管理方法，重点是合作和分享最佳实践。
Purpose of reviewTransthyretin 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.Recent findingsThe 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.SummaryThe 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.