title: 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.
abstract: OBJECTIVE
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: 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.
authors.forename: Yesim
authors.initials: Y
authors.lastname: Parman
authors.forename: David
authors.initials: D
authors.lastname: Adams
authors.forename: Laura
authors.initials: L
authors.lastname: Obici
authors.forename: Lucía
authors.initials: L
authors.lastname: Galán
authors.forename: Velina
authors.initials: V
authors.lastname: Guergueltcheva
authors.forename: Ole B
authors.initials: OB
authors.lastname: Suhr
authors.forename: Teresa
authors.initials: T
authors.lastname: Coelho
mesh_terms: D028227:Amyloid Neuropathies, Familial / Q000175:diagnosis / Q000453:epidemiology* / Q000235:genetics / Q000628:therapy*; D016208:Databases, Factual / Q000706:statistics & numerical data; D019468:Disease Management; D005060:Europe / Q000453:epidemiology; D006801:Humans; D007255:Information Services; D008137:Longitudinal Studies