The DOI matches its Crossref record; 18 of the 18 references it cites were found in a registry or an index.
“Red‐flag” symptom clusters in transthyretin familial amyloid polyneuropathy
Open accessAbstract
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.
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Cites
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Guideline of transthyretin-related hereditary amyloidosis for clinicians
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Self-citationGlynn, L. E. (1981) · PubMed Central · Cited by 412
Long-term effects of tafamidis for the treatment of transthyretin familial amyloid polyneuropathy
Coelho, T., Maia, L. F., da Silva, A. M., Cruz, M. W., Planté-Bordeneuve, V., Suhr, O. B., Conceiçao, I., Schmidt, H. H.-J., Trigo, P., Kelly, J. W., et al. (2013) · Journal of Neurology · doi:10.1007/s00415-013-7051-7 · Cited by 344
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Self-citationType I (Transthyretin Met30) Familial Amyloid Polyneuropathy in Japan: Early- vs Late-Onset Form
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Diagnostic pitfalls in sporadic transthyretin familial amyloid polyneuropathy (TTR-FAP)
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Patisiran, an RNAi Therapeutic, for Hereditary Transthyretin Amyloidosis
Adams, D., Gonzalez-Duarte, A., O’Riordan, W. D., Yang, C.-C., Ueda, M., Kristen, A. V., Tournev, I., Schmidt, H. H., Coelho, T., Berk, J. L., et al. (2018) · New England Journal of Medicine · doi:10.1056/nejmoa1716153 · Cited by 3,047
Self-citationSolomon, S. D., Adams, D., Kristen, A., Grogan, M., González-Duarte, A., Maurer, M. S., Merlini, G., Damy, T., Slama, M. S., Brannagan, T. H., et al. (2019) · Circulation · doi:10.1161/circulationaha.118.035831 · Cited by 462
Self-citationHereditary transthyretin amyloidosis: a model of medical progress for a fatal disease
Adams, D., Koike, H., Slama, M., & Coelho, T. (2019) · Nature Reviews Neurology · doi:10.1038/s41582-019-0210-4 · Cited by 448
Trials and Tribulations of MicroRNA Therapeutics
Seyhan, A. A. (2024) · International Journal of Molecular Sciences · doi:10.3390/ijms25031469 · Cited by 381
Patisiran, an RNAi Therapeutic for the Treatment of Hereditary Transthyretin-Mediated Amyloidosis
Kristen, A. V., Ajroud-Driss, S., Conceição, I., Gorevic, P., Kyriakides, T., & Obici, L. (2019) · Neurodegenerative Disease Management · doi:10.2217/nmt-2018-0033 · Cited by 268
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Metadata
- Authors
- Conceição, I., González‐Duarte, A., Obici, L., Schmidt, H. H. ‐., Simoneau, D., Ong, M., & Amass, L.
- Venue
- Journal of the Peripheral Nervous System
- Publisher
- Wiley
- Published
- 2016-03
- Volume
- 21
- Issue
- 1
- Pages
- 5-9
- ISSN
- 1085-9489 (ISSN-L)
- 1529-8027
- OpenAlex
- W2212415077
- Cited by
- 299
- References
- 18
- FWCI
- 5.53
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- CoChat. (2026). Citation check: “Red‐flag” symptom clusters in transthyretin familial amyloid polyneuropathy. https://app.cochat.ai/papers/10.1111/jns.12153
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- Conceição, I., González‐Duarte, A., Obici, L., Schmidt, H. H. ‐., Simoneau, D., Ong, M., & Amass, L. (2016). “Red‐flag” symptom clusters in transthyretin familial amyloid polyneuropathy. Journal of the Peripheral Nervous System. https://doi.org/10.1111/jns.12153
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