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

Overview

Journal Curr Opin Neurol

Specialty Neurology

Date 2016 Jan 7

PMID 26734951

Citations 81

Authors

Yesim Parman

David Adams

Laura Obici

Lucia Galan

Velina Guergueltcheva

Ole B Suhr

Teresa Coelho

Affiliations

Soon will be listed here.

Abstract

Purpose Of Review: 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.

Recent Findings: 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.

Summary: 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.

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