Adams David, Suhr Ole B, Hund Ernst, Obici Laura, Tournev Ivailo, Campistol Josep M, Slama Michel S, Hazenberg Bouke P, Coelho Teresa
aFrench Reference Center for FAP (NNERF), CHU Bicêtre (APHP), Université Paris-Sud, FILNEMUS, Paris, France bDepartment of Public Health and Clinical Medicine, Umeå University, Umeå, Sweden cUniversität Heidelberg, Heidelberg, Germany dAmyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico S. Matteo, Pavia, Italy eDepartment of Neurology, Medical University - Sofia, Sofia, Bulgaria fDepartment of Cognitive Science and Psychology, New Bulgarian University, Sofia, Bulgaria gInstituto Clínico de Nefrología y Urología ICNU, Barcelona, Spain hHôpital Antoine Beclere, Université Paris-Sud, Clamart, France iUniversity Medical Center Groningen, University of Groningen, Groningen, the Netherlands jHospital Santo António, Centro Hospitalar do Porto, Porto, Portugal.
Curr Opin Neurol. 2016 Feb;29 Suppl 1(Suppl 1):S14-26. doi: 10.1097/WCO.0000000000000289.
Early and accurate diagnosis of transthyretin familial amyloid polyneuropathy (TTR-FAP) represents one of the major challenges faced by physicians when caring for patients with idiopathic progressive neuropathy. There is little consensus in diagnostic and management approaches across Europe.
The low prevalence of TTR-FAP across Europe and the high variation in both genotype and phenotypic expression of the disease means that recognizing symptoms can be difficult outside of a specialized diagnostic environment. The resulting delay in diagnosis and the possibility of misdiagnosis can misguide clinical decision-making and negatively impact subsequent treatment approaches and outcomes.
This review summarizes the findings from two meetings of the European Network for TTR-FAP (ATTReuNET). This is an emerging group comprising representatives from 10 European countries with expertise in the diagnosis and management of TTR-FAP, including nine National Reference Centres. The current review presents management strategies and a consensus on the gold standard for diagnosis of TTR-FAP as well as a structured approach to ongoing multidisciplinary care for the patient. Greater communication, not just between members of an individual patient's treatment team, but also between regional and national centres of expertise, is the key to the effective management of TTR-FAP.
甲状腺转运蛋白家族性淀粉样多神经病（TTR-FAP）的早期准确诊断是医生在治疗特发性进行性神经病患者时面临的主要挑战之一。欧洲各地在诊断和管理方法上几乎没有共识。
TTR-FAP在欧洲的患病率较低，且该疾病的基因型和表型表达差异很大，这意味着在专门的诊断环境之外识别症状可能很困难。由此导致的诊断延迟和误诊可能性可能会误导临床决策，并对后续治疗方法和结果产生负面影响。
本综述总结了欧洲TTR-FAP网络（ATTReuNET）两次会议的结果。这是一个新兴组织，由来自10个欧洲国家的代表组成，他们在TTR-FAP的诊断和管理方面具有专业知识，其中包括9个国家参考中心。当前的综述提出了管理策略以及关于TTR-FAP诊断金标准的共识，以及针对患者进行持续多学科护理的结构化方法。加强沟通，不仅要在个体患者治疗团队成员之间，还要在地区和国家专业中心之间进行沟通，是有效管理TTR-FAP的关键。
