Diagnosis, Prognosis, and Therapy of Transthyretin Amyloidosis

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• 作者：Morie A. Gertz ; MD^&lowast ; ; ^{gertz.morie@mayo.edu" class="auth_mail" title="E-mail the corresponding author} ; Merrill D. Benson ; MD^&dagger ; ; Peter J. Dyck ; MD^&Dagger ; ; Martha Grogan ; MD^§ ; ; Terresa Coelho ; MD^‖ ; Marcia Cruz ; MD^¶ ; ; John L. Berk ; MD^# ; Violaine Plante-Bordeneuve ; MD^&lowast ; &lowast ; ; Hartmut H.J. Schmidt ; MD^&dagger ; &dagger ; ; Giampaolo Merlini ; MD^&Dagger ; &Dagger ;
• 关键词：familial amyloid cardiomyopathy ; familial amyloid polyneuropathy ; genetics ; liver transplantation
• 刊名：Journal of the American College of Cardiology
• 出版年：2015
• 出版时间：1 December 2015
• 年：2015
• 卷：66
• 期：21
• 页码：2451-2466
• 全文大小：2578 K

文摘

Transthyretin amyloidosis is a fatal disorder that is characterized primarily by progressive neuropathy and cardiomyopathy. It occurs in both a mutant form (with autosomal dominant inheritance) and a wild-type form (with predominant cardiac involvement). This article guides clinicians as to when the disease should be suspected, describes the appropriate diagnostic evaluation for those with known or suspected amyloidosis, and reviews the interventions currently available for affected patients.