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心脏淀粉样变性:极具伪装性的疾病。

Cardiac amyloidosis: the great pretender.

作者信息

Rapezzi Claudio, Lorenzini Massimiliano, Longhi Simone, Milandri Agnese, Gagliardi Christian, Bartolomei Ilaria, Salvi Fabrizio, Maurer Mathew S

机构信息

Cardiology, Department of Experimental, Diagnostic and Specialty Medicine - DIMES, Alma Mater Studiorum, University of Bologna, Bologna, Italy,

出版信息

Heart Fail Rev. 2015 Mar;20(2):117-24. doi: 10.1007/s10741-015-9480-0.

Abstract

Cardiac amyloidosis (CA) is often misdiagnosed because of both physician-related and disease-related reasons including: fragmented knowledge among different specialties and subspecialties, shortage of centres and specialists dedicated to disease management, erroneous belief it is an incurable disease, rarity of the condition, intrinsic phenotypic heterogeneity, genotypic heterogeneity in transthyretin-related forms and the necessity of target organ tissue histological diagnosis in the vast majority of cases. Pitfalls, incorrect beliefs and deceits challenge not only the path to the diagnosis of CA but also the precise identification of aetiological subtype. The awareness of this condition is the most important prerequisite for the management of the risk of underdiagnoses and misdiagnosis. Almost all clinical, imaging and laboratory tests can be misinterpreted, but fortunately each of these diagnostic steps can also offer diagnostic "red flags" (i.e. highly suggestive findings that can foster the correct diagnostic suspicion and facilitate early, timely diagnosis). This is especially important because outcomes in CA are largely driven by the severity of cardiac dysfunction and emerging therapies are aimed at preventing further amyloid deposition.

摘要

心脏淀粉样变性(CA)常因与医生及疾病相关的原因而被误诊,这些原因包括:不同专科和亚专科之间知识碎片化、缺乏专门从事疾病管理的中心和专家、错误地认为它是一种无法治愈的疾病、该病罕见、内在表型异质性、转甲状腺素蛋白相关型的基因型异质性以及绝大多数病例需要进行靶器官组织组织学诊断。陷阱、错误观念和欺骗不仅对CA的诊断路径构成挑战,也对病因亚型的准确识别构成挑战。对这种疾病的认识是管理漏诊和误诊风险的最重要前提。几乎所有临床、影像学和实验室检查都可能被误解,但幸运的是,这些诊断步骤中的每一个也都能提供诊断“警示信号”(即高度提示性的发现,可引发正确的诊断怀疑并促进早期、及时的诊断)。这一点尤为重要,因为CA的预后很大程度上由心脏功能障碍的严重程度决定,而新兴疗法旨在防止淀粉样蛋白进一步沉积。

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