Optimizing the management of transthyretin familial amyloid polyneuropathy in Europe: early diagnosis and effective care

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is an autosomal dominant disorder caused by the extracellular deposition of insoluble amyloid fibrils in the endoneurium. TTR-FAP occurs as a result of transthyretin (TTR) gene mutation, and more than 100 TTR mutation types are recognized [1]. It is a highly disabling and life-threatening disease, characterized by progressive sensorimotor and autonomic neuropathy, and is fatal within 7–12 years of disease onset [2]. For some time, it was believed that TTR-FAP was an endemic disease in Europe, affecting only north Portugal, Sweden, Cyprus, and Majorca; however, with improvements in diagnostic methods in recent years, numerous sporadic cases have been diagnosed in many other countries [1]. This supplement arose from discussions that took place during two meetings (November 2012 and March 2014) of an emerging group that is provisionally called the European Network for TTR-FAP (ATTReuNET). The group currently includes a representative panel of 15 TTR-FAP experts from 10 European countries (Bulgaria, Cyprus, France, Germany, Italy, the Netherlands, Portugal, Spain, Sweden, and Turkey), including nine National Reference Centres for familial amyloid polyneuropathy. As an emergent network, ATTReuNET is open to collaborations with other expert centres in Europe. The group members devised and completed a semistructured questionnaire on the situation of TTR-FAP in their countries prior to the 2012 meeting and updated the responses in 2014. This information was used to guide the live discussion, with a focus on five main areas: epidemiology and local structure of care; diagnosis; management and funding; follow-up care of both patients and asymptomatic carriers; and the overall patient experience. This supplement contains three articles that aim to disseminate the major findings from these meetings and to align these findings with data available from a systematic review of the published