"Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy.

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.

• Authors: Isabel Conceição, Alejandra González-Duarte, Laura Obici, Hartmut H-J Schmidt, Damien Simoneau, Moh-Lim Ong, Leslie Amass
• Journal: Journal of the peripheral nervous system : JPNS (J Peripher Nerv Syst) Vol. 21 Issue 1 Pg. 5-9 (Mar 2016) ISSN: 1529-8027 [Electronic] United States
• PMID: 26663427 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't, Review)
• Copyright: © 2015 The Authors. Journal of the Peripheral Nervous System published by Wiley Periodicals, Inc. on behalf of Peripheral Nerve Society.

Topics

• Amyloid Neuropathies, Familial (diagnosis)
• Early Diagnosis
• Humans