Impact of Delayed Diagnosis and Misdiagnosis for Patients with Transthyretin Amyloid Cardiomyopathy (ATTR-CM): A Targeted Literature Review

• Published in: Cardiology and Therapy Vol. 10; no. 1; pp. 141 - 159
• Main Authors: Rozenbaum, Mark H., Large, Samuel, Bhambri, Rahul, Stewart, Michelle, Whelan, Jo, van Doornewaard, Alexander, Dasgupta, Noel, Masri, Ahmad, Nativi-Nicolau, Jose
• Format: Journal Article
• Language: English
• Published: Cheshire Springer Healthcare 01.06.2021; Springer
• Subjects: Cardiology; Causes of; Complications and side effects; Diagnosis; Diagnostic errors; Heart diseases; Internal Medicine; Medicine; Medicine & Public Health; Review; Netherlands; Heart failure; Misdiagnosis; Diagnosis; Cardiac amyloidosis; Transthyretin amyloid cardiomyopathy
• ISSN: 2193-8261; 2193-6544
• DOI: 10.1007/s40119-021-00219-5

Introduction 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. Methods 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. Results 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. Conclusion 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.