Transthyretin amyloidosis: an under-recognized neuropathy and cardiomyopathy

Clin Sci (Lond). 2017 Mar 1;131(5):395-409. doi: 10.1042/CS20160413.

Abstract

Transthyretin (TTR) amyloidosis (ATTR amyloidosis) is an underdiagnosed and important type of cardiomyopathy and/or polyneuropathy that requires increased awareness within the medical community. Raising awareness among clinicians about this type of neuropathy and lethal form of heart disease is critical for improving earlier diagnosis and the identification of patients for treatment. The following review summarizes current criteria used to diagnose both hereditary and wild-type ATTR (ATTRwt) amyloidosis, tools available to clinicians to improve diagnostic accuracy, available and newly developing therapeutics, as well as a brief biochemical and biophysical background of TTR amyloidogenesis.

Keywords: ATTR amyloidosis; cardiac amyloidosis; cardiomyopathy; heart failure; polyneuropathy; transthyretin amyloidosis.

Publication types

  • Review

MeSH terms

  • Amyloid Neuropathies, Familial / diagnosis
  • Amyloid Neuropathies, Familial / etiology
  • Amyloid Neuropathies, Familial / therapy*
  • Cardiomyopathies / etiology
  • Humans

Supplementary concepts

  • Amyloidosis, Hereditary, Transthyretin-Related