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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Ando, Yukio Coelho, Teresa Berk, John L Cruz, Márcia Waddington Ericzon, Bo-Göran Ikeda, Shu-ichi Lewis, W David Obici, Laura Planté-Bordeneuve, Violaine Rapezzi, Claudio Said, Gerard Salvi, Fabrizio |
| Abstract | 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. |
| Related Links | https://ojrd.biomedcentral.com/counter/pdf/10.1186/1750-1172-8-31.pdf |
| Ending Page | 18 |
| Page Count | 18 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 17501172 |
| DOI | 10.1186/1750-1172-8-31 |
| Journal | Orphanet Journal of Rare Diseases |
| Issue Number | 1 |
| Volume Number | 8 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2013-02-20 |
| Access Restriction | Open |
| Subject Keyword | Medicine Public Health Pharmacology Toxicology Human Genetics Amyloidosis Polyneuropathy Cardiomyopathy Oculoleptomeningeal Transthyretin Liver transplant Genetics Medicine/Public Health Pharmacology/Toxicology |
| Content Type | Text |
| Resource Type | Review |
| Subject | Pharmacology (medical) Genetics (clinical) |
| Journal Impact Factor | 3.4/2023 |
| 5-Year Journal Impact Factor | 3.9/2023 |
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