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Conceição I, González-Duarte A, Obici L, et al. "Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst. 2016;21(1):5-9doi: 10.1111/jns.12153.
Conceição, I., González-Duarte, A., Obici, L., Schmidt, H. H., Simoneau, D., Ong, M. L., & Amass, L. (2016). "Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy. Journal of the peripheral nervous system : JPNS, 21(1), 5-9. https://doi.org/10.1111/jns.12153
Conceição, Isabel, et al. ""Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy." Journal of the peripheral nervous system : JPNS vol. 21,1 (2016): 5-9. doi: https://doi.org/10.1111/jns.12153
Conceição I, González-Duarte A, Obici L, Schmidt HH, Simoneau D, Ong ML, Amass L. "Red-flag" symptom clusters in transthyretin familial amyloid polyneuropathy. J Peripher Nerv Syst. 2016 Mar;21(1):5-9. doi: 10.1111/jns.12153. PMID: 26663427; PMCID: PMC4788142.
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J Peripher Nerv Syst. 2016 Mar;21(1):5-9. doi: 10.1111/jns.12153.

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

Journal of the peripheral nervous system : JPNS

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

Affiliations

  1. CHLN - Hospital de Santa Maria, and Clinical and Translational Physiology Unit, Faculty of Medicine-IMM, Physiology Institute, Lisbon, Portugal.
  2. Department of Neurology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, México City, México.
  3. Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
  4. Klinik für Transplantationsmedizin, Universitätsklinikum Münster, Münster, Germany.
  5. Medical Division, Pfizer International Operations, Paris, France.
  6. Global Medical Affairs, Global Innovative Pharma, Pfizer Inc, New York, NY, USA.

PMID: 26663427 PMCID: PMC4788142 DOI: 10.1111/jns.12153

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.

© 2015 The Authors. Journal of the Peripheral Nervous System published by Wiley Periodicals, Inc. on behalf of Peripheral Nerve Society.

Keywords: diagnosis; hereditary amyloidosis; transthyretin; transthyretin familial amyloid neuropathy

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