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Open Access Highly Accessed Review

Guideline of transthyretin-related hereditary amyloidosis for clinicians

Yukio Ando113*, Teresa Coelho2, John L Berk3, Márcia Waddington Cruz4, Bo-Göran Ericzon5, Shu-ichi Ikeda6, W David Lewis7, Laura Obici8, Violaine Planté-Bordeneuve9, Claudio Rapezzi10, Gerard Said11 and Fabrizio Salvi12

Author Affiliations

1 Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo , Chuo-ku, Kumamoto, 860-8556, Japan

2 Department of Neurology, Hospital de Santo António, Porto, Portugal

3 Amyloid Treatment & Research Program, Department of Medicine, Boston University, Boston, Massachusetts, USA

4 Department of Neurology, Federal University of Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Rio de Janeiro, Brazil

5 Division of Transplantation Surgery, Karolinska University Hospital, Stockholm, Sweden

6 Department of Medicine, Shinshu University, Matsumoto, Japan

7 Department of Transplantation, Lahey Clinic Medical Center, Burlington, Massachusetts, USA

8 Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy

9 Department of Neurology, CHU Henri Mondor, Créteil, France

10 Institute of Cardiology, University of Bologna, Bologna, Italy

11 Department of Neurology, Hôpital de la Salpêtrière, Paris, France

12 Department of Neurology, Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy

13 Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan

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Orphanet Journal of Rare Diseases 2013, 8:31  doi:10.1186/1750-1172-8-31

Published: 20 February 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.

Keywords:
Amyloidosis; Polyneuropathy; Cardiomyopathy; Oculoleptomeningeal; Transthyretin; Liver transplant; Genetics