Clinical Presentation, Diagnosis and Treatment of TTR Amyloidosis

摘要

Systemic amyloidosis can be hereditary or acquired with autosomal dominant mutations in the transthyretin gene (TTR ) being the most common cause of hereditary amyloidosis. ATTRm amyloidosis is a multi-system disorder with cardiovascular, peripheral and autonomic nerve involvement that can be difficult to diagnose due to phenotypic heterogeneity. This review will focus on the neuropathic manifestations of ATTRm, the genotype-phenotype variability, the diagnostic approach and the recent therapeutic advances in this disabling condition.