Journal
ORPHANET JOURNAL OF RARE DISEASES
Volume 8, Issue -, Pages -Publisher
BMC
DOI: 10.1186/1750-1172-8-31
Keywords
Amyloidosis; Polyneuropathy; Cardiomyopathy; Oculoleptomeningeal; Transthyretin; Liver transplant; Genetics
Funding
- Alnylam Pharmaceuticals
- FoldRx Pharmaceuticals
- Pfizer Inc
- Grants-in-Aid for Scientific Research [23659303] Funding Source: KAKEN
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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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