Red-flag symptom clusters in transthyretin familial amyloid polyneuropathy

Isabel Conceição, Alejandra González-Duarte, Laura Obici, Hartmut H J Schmidt, Damien Simoneau, Moh Lim Ong, Leslie Amass

Research output: Contribution to journalArticlepeer-review

Abstract

Transthyretin familial amyloid polyneuropathy (TTR-FAP) is a rare, progressive, life-threatening, hereditary disorder caused by mutations in the transthyretin gene and characterized by extracellular deposition of transthyretin-derived amyloid fibrils in peripheral and autonomic nerves, heart, and other organs. TTR-FAP is frequently diagnosed late because the disease is difficult to recognize due to phenotypic heterogeneity. Based on published literature and expert opinion, symptom clusters suggesting TTR-FAP are reviewed, and practical guidance to facilitate earlier diagnosis is provided. TTR-FAP should be suspected if progressive peripheral sensory-motor neuropathy is observed in combination with one or more of the following: family history of a neuropathy, autonomic dysfunction, cardiac hypertrophy, gastrointestinal problems, inexplicable weight loss, carpal tunnel syndrome, renal impairment, or ocular involvement. If TTR-FAP is suspected, transthyretin genotyping, confirmation of amyloid in tissue biopsy, large- and small-fiber assessment by nerve conduction studies and autonomic system evaluations, and cardiac testing should be performed.

Original languageEnglish
Pages (from-to)5-9
Number of pages5
JournalJournal of the Peripheral Nervous System
Volume21
Issue number1
DOIs
Publication statusPublished - Mar 1 2016

Keywords

  • diagnosis
  • hereditary amyloidosis
  • transthyretin
  • transthyretin familial amyloid neuropathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

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