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Open Access 01-12-2013 | Review

Guideline of transthyretin-related hereditary amyloidosis for clinicians

Authors: Yukio Ando, Teresa Coelho, John L Berk, Márcia Waddington Cruz, Bo-Göran Ericzon, Shu-ichi Ikeda, W David Lewis, Laura Obici, Violaine Planté-Bordeneuve, Claudio Rapezzi, Gerard Said, Fabrizio Salvi

Published in: Orphanet Journal of Rare Diseases | Issue 1/2013

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.

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Title: Guideline of transthyretin-related hereditary amyloidosis for clinicians
Authors: Yukio Ando
Teresa Coelho
John L Berk
Márcia Waddington Cruz
Bo-Göran Ericzon
Shu-ichi Ikeda
W David Lewis
Laura Obici
Violaine Planté-Bordeneuve
Claudio Rapezzi
Gerard Said
Fabrizio Salvi
Publication date: 01-12-2013
Publisher: BioMed Central
Published in: Orphanet Journal of Rare Diseases / Issue 1/2013
Electronic ISSN: 1750-1172
DOI: https://doi.org/10.1186/1750-1172-8-31

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Guideline of transthyretin-related hereditary amyloidosis for clinicians

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

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