Utilize este identificador para referenciar este registo: http://hdl.handle.net/10400.16/1608
Título: Guideline of transthyretin-related hereditary amyloidosis for clinicians
Autor: Ando, Y.
Coelho, T.
Berk, J.
Cruz, M.
Ericzon, B.
Ikeda, S.
Lewis, W.
Obici, L.
Planté-Bordeneuve, V.
Rapezzi, C.
Said, G.
Salvi, F.
Palavras-chave: Amyloidosis
Polyneuropathy
Cardiomyopathy
Oculoleptomeningeal
Transthyretin
Liver transplant
Genetics
Data: 2013
Editora: BioMed Central
Citação: Orphanet Journal of Rare Diseases 2013, 8:31
Resumo: 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 pharmacyotherapies that have shown promise in clinical trials.
Peer review: yes
URI: http://hdl.handle.net/10400.16/1608
ISSN: 1750-1172
Versão do Editor: http://www.ojrd.com/content/pdf/1750-1172-8-31.pdf
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SNOS - Artigos publicados em revistas não indexadas na Medline

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