First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy.

ABSTRACT:

Purpose of review

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.

Recent findings

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.

Summary

This review summarizes the findings from two

SUBMITTER: Adams D 

PROVIDER: S-EPMC4739312 | biostudies-literature | 2016 Feb

REPOSITORIES: biostudies-literature