The awareness and diagnosis of wild‐type transthyretin amyloid cardiomyopathy (ATTRwt CM) is challenging, despite ATTRwt being more common than previously thought. Screening is necessary for early detection and diagnosis of ATTRwt CM, as well as for timely treatment of the disease.
The clinical characteristics of wild‐type transthyretin amyloid cardiomyopathy (ATTRwt CM) can vary among affected patients, and diagnostic strategies may sometimes be invasive. However, advances in non-invasive diagnostic tools, echocardiography, and disease-modifying treatment options have increased interest in ATTRwt CM in the medical community.
Researchers gathered the current data and guidelines to create an overview of the suspicion, diagnosis, and screening of ATTRwt CM. The systematic literature review developed a framework from articles published between 2010 and 2021 that contained a diagnostic strategy for ATTRwt CM. Nearly 50 articles were included in the literature review.
Of the 50 articles included in the review, only three studies explicitly noted the importance of initial patient contact with primary care providers. Most studies described suspicion criteria that included cardiac symptoms, specific biomarkers, and findings from electrocardiography (ECG), echocardiography (ECHO), and cardiac magnetic resonance (CMR). The most frequently mentioned suspicion criteria included carpal tunnel syndrome, ventricular wall thickening, and late gadolinium enhancement on CMR. Overall, diagnostic pathways were similar across the included studies and included the use of bone scintigraphy, exclusion of light-chain amyloidosis, and the use of a biopsy.
This systematic review identifies critical knowledge gaps for detecting and diagnosing ATTRwt CM. General practitioners are a vital part of patient entry into the diagnostic pathway. Increased awareness of ATTRwt CM in general practitioners and primary care providers could help improve the diagnosis of ATTRwt CM. Healthcare providers with an improved understanding and awareness of the available data on ATTRwt CM can also help streamline the early treatment of ATTRwt CM. Still, well-defined screening criteria for at-risk populations are needed for the early detection and diagnosis of ATTRwt CM.
Bay, K., Gustafsson, F., Maiborg, M., Bagger-Bahnsen, A., Strand, A. M., Pilgaard, T., & Poulsen, S. H. (2022). Suspicion, screening, and diagnosis of wild-type transthyretin amyloid cardiomyopathy: a systematic literature review. ESC Heart Fail, 9(3), 1524-1541. https://doi.org/10.1002/ehf2.13884