Guideline of transthyretin-related hereditary amyloidosis for clinicians

Orphanet Journal of Rare Diseases

Fabrizio Salvi^1,10  Gerard Said³  Claudio Rapezzi^1,11  Violaine Planté-Bordeneuve⁴  Laura Obici⁵  W David Lewis⁸  Shu-ichi Ikeda⁶  Bo-Göran Ericzon¹  Márcia Waddington Cruz²  John L Berk^1,12  Teresa Coelho⁷  Yukio Ando⁹ 

[1] Division of Transplantation Surgery, Karolinska University Hospital, Stockholm, Sweden;Department of Neurology, Federal University of Rio de Janeiro, Hospital Universitário Clementino Fraga Filho, Rio de Janeiro, Brazil;Department of Neurology, Hôpital de la Salpêtrière, Paris, France;Department of Neurology, CHU Henri Mondor, Créteil, France;Amyloidosis Research and Treatment Center, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy;Department of Medicine, Shinshu University, Matsumoto, Japan;Department of Neurology, Hospital de Santo António, Porto, Portugal;Department of Transplantation, Lahey Clinic Medical Center, Burlington, Massachusetts, USA;Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, 1-1-1 Honjo, Kumamoto, 860-0811, Japan;Department of Neurology, Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy;Institute of Cardiology, University of Bologna, Bologna, Italy;Amyloid Treatment & Research Program, Department of Medicine, Boston University, Boston, Massachusetts, USA

关键词: Genetics;    Liver transplant;    Transthyretin;    Oculoleptomeningeal;    Cardiomyopathy;    Polyneuropathy;    Amyloidosis;   

Others  :  864113
DOI  :  10.1186/1750-1172-8-31

 received in 2012-10-11, accepted in 2013-01-01,  发布年份 2013

【 摘 要 】

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.

【 授权许可】

   
2013 Ando et al; licensee BioMed Central Ltd.

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