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Orphanet J Rare Dis. 2013 Feb 20;8:31. doi: 10.1186/1750-1172-8-31.

Guideline of transthyretin-related hereditary amyloidosis for clinicians.

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1
Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Chuo-ku, Kumamoto, 860-8556, Japan. andoy709@kumamoto-u.ac.jp

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.

PMID:
23425518
PMCID:
PMC3584981
DOI:
10.1186/1750-1172-8-31
[Indexed for MEDLINE]
Free PMC Article
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