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Guideline of transthyretin-related hereditary amyloidosis for clinicians
Open accessAbstract
Transthyretin amyloidosis is a progressive and eventually fatal disease primarily characterized by sensory, motor, and autonomic neuropathy and/or cardiomyopathy. Given its phenotypic unpredictability and variability, transthyretin amyloidosis can be difficult to recognize and manage. Misdiagnosis is common, and patients may wait several years before accurate diagnosis, risking additional significant irreversible deterioration. This article aims to help physicians better understand transthyretin amyloidosis--and, specifically, familial amyloidotic polyneuropathy--so they can recognize and manage the disease more easily and discuss it with their patients. We provide guidance on making a definitive diagnosis, explain methods for disease staging and evaluation of disease progression, and discuss symptom mitigation and treatment strategies, including liver transplant and several pharmacotherapies that have shown promise in clinical trials.
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Cited by
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-citationCRISPR-Cas9 In Vivo Gene Editing for Transthyretin Amyloidosis
Gillmore, J. D., Gane, E., Taubel, J., Kao, J., Fontana, M., Maitland, M. L., Seitzer, J., O’Connell, D., Walsh, K. R., Wood, K., et al. (2021) · New England Journal of Medicine · doi:10.1056/nejmoa2107454 · Cited by 1,801
Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis
Benson, M. D., Waddington-Cruz, M., Berk, J. L., Polydefkis, M., Dyck, P. J., Wang, A. K., Planté-Bordeneuve, V., Barroso, F. A., Merlini, G., Obici, L., et al. (2018) · New England Journal of Medicine · doi:10.1056/nejmoa1716793 · Cited by 1,452
Self-citationDiagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis
Gertz, M. A., Benson, M. D., Dyck, P. J., Grogan, M., Coelho, T., Cruz, M., Berk, J. L., Plante-Bordeneuve, V., Schmidt, H. H. J., & Merlini, G. (2015) · Journal of the American College of Cardiology · doi:10.1016/j.jacc.2015.09.075 · Cited by 475
Self-citationScreening for Transthyretin Amyloid Cardiomyopathy in Everyday Practice
Witteles, R. M., Bokhari, S., Damy, T., Elliott, P. M., Falk, R. H., Fine, N. M., Gospodinova, M., Obici, L., Rapezzi, C., & Garcia-Pavia, P. (2019) · JACC: Heart Failure · doi:10.1016/j.jchf.2019.04.010 · Cited by 351
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Metadata
- Authors
- Ando, Y., Coelho, T., Berk, J. L., Cruz, M. W., Ericzon, B.-G., Ikeda, S.-I., Lewis, W. D., Obici, L., Planté-Bordeneuve, V., Rapezzi, C., Said, G., & Salvi, F.
- Venue
- Orphanet Journal of Rare Diseases
- Published
- 2013
- Volume
- 8
- Issue
- 1
- Pages
- 31
- ISSN
- 1750-1172 (ISSN-L)
- OpenAlex
- W2115862827
- Cited by
- 719
- References
- 0
- FWCI
- 14.66
- Type
- journal article
- Language
- en
- Open access
- gold
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- Ando, Y., Coelho, T., Berk, J. L., Cruz, M. W., Ericzon, B.-G., Ikeda, S.-I., Lewis, W. D., Obici, L., Planté-Bordeneuve, V., Rapezzi, C., Said, G., & Salvi, F. (2013). Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet Journal of Rare Diseases. https://doi.org/10.1186/1750-1172-8-31
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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