Rozenbaum Mark H, Large Samuel, Bhambri Rahul, Stewart Michelle, Whelan Jo, van Doornewaard Alexander, Dasgupta Noel, Masri Ahmad, Nativi-Nicolau Jose
Pfizer, Capelle a/d IJssel, The Netherlands.
Pfizer UK, Walton Oaks, UK.
Cardiol Ther. 2021 Jun;10(1):141-159. doi: 10.1007/s40119-021-00219-5. Epub 2021 Apr 20.
Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive, fatal and under-recognized disease. This targeted literature review assessed the extent and consequences of diagnostic delay and misdiagnosis in ATTR-CM.
The Embase database was searched together with proceedings of eight cardiology conferences to identify publications or abstracts on ATTR-CM. Outcomes of interest were time from symptom onset to diagnosis, rates of delayed diagnosis and misdiagnosis, and costs, healthcare resource use or clinical outcomes whilst undiagnosed/misdiagnosed.
Twenty-three articles were included. Weighted means of reported mean and median diagnostic delays were 6.1 and 3.4 years for wild-type (ATTRwt-CM) and 5.7 and 2.6 years for hereditary (ATTRv-CM). Misdiagnosis occurred in 34-57% of patients when reported. Evaluation and misdiagnosis by multiple healthcare providers before receiving an ATTR-CM diagnosis was common, and there was evidence that patients undergo unnecessary or inappropriate evaluations or treatments while misdiagnosed. Diagnostic "red flags" were reported to be underused. Data on the consequences of delay for patients and health systems were sparse, but given the progressive nature of ATTR-CM, delay is likely to have adverse consequences.
ATTR-CM patients commonly experience diagnostic delay and misdiagnosis. Efforts are required to provide timely diagnosis so that patients can benefit from earlier access to new disease-modifying therapies.
转甲状腺素蛋白淀粉样变心肌病（ATTR-CM）是一种进行性、致命且未得到充分认识的疾病。本针对性文献综述评估了ATTR-CM诊断延迟和误诊的程度及后果。
检索了Embase数据库以及八个心脏病学会议的会议记录，以确定关于ATTR-CM的出版物或摘要。感兴趣的结果包括从症状出现到诊断的时间、延迟诊断和误诊率，以及未诊断/误诊期间的成本、医疗资源使用情况或临床结果。
纳入了23篇文章。报告的野生型（ATTRwt-CM）平均诊断延迟和中位诊断延迟的加权平均值分别为6.1年和3.4年，遗传性（ATTRv-CM）分别为5.7年和2.6年。报告显示，34%-57%的患者存在误诊。在确诊ATTR-CM之前，多名医疗服务提供者进行评估和误诊的情况很常见，有证据表明患者在误诊期间接受了不必要或不适当的评估或治疗。据报道，诊断“红旗”未得到充分利用。关于延迟对患者和卫生系统后果的数据很少，但鉴于ATTR-CM的进行性，延迟可能会产生不良后果。
ATTR-CM患者通常会经历诊断延迟和误诊。需要努力提供及时诊断，以便患者能够更早地受益于新的疾病修正疗法。
