Cardiac amyloidosis: the great pretender
Cardiac amyloidosis: the great pretender
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DOI：
10.1007/s10741-015-9480-0
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发表时间：
2015-03-01
影响因子：
4.6
通讯作者：
Maurer, Mathew S.
中科院分区：
文献类型：
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作者：
Rapezzi, Claudio;Lorenzini, Massimiliano;Maurer, Mathew S.
心脏淀粉样变性 (CA) 经常因医生相关和疾病相关原因而被误诊，包括：不同专业和亚专业之间的知识分散、缺乏致力于疾病管理的中心和专家、错误地认为这是一种不治之症、病情罕见、内在表型异质性、转甲状腺素蛋白相关形式的基因型异质性和 在绝大多数情况下有必要进行靶器官组织的组织学诊断。陷阱、不正确的信念和欺骗不仅挑战了 CA 的诊断途径，而且挑战了病因亚型的精确识别。对这种情况的认识是管理漏诊和误诊风险的最重要前提。几乎所有的临床、影像和实验室测试都可能被误解，但幸运的是，这些诊断步骤中的每一个都可以提供诊断“危险信号”（即高度提示性的发现，可以促进正确的诊断怀疑并促进早期、及时的诊断）。这一点尤其重要，因为 CA 的结果很大程度上是由心功能障碍的严重程度决定的，而新兴疗法旨在防止进一步的淀粉样蛋白沉积。
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.