Background: Amyloid transthyretin (ATTR) amyloidosis is a rare, life-threatening disease frequently manifesting with cardiomyopathy (ATTR-CM), polyneuropathy (ATTR-PN) or both (ATTR-mixed). We retrospectively analysed US electronic health records and claims data to provide up-to-date estimates of ATTR amyloidosis epidemiology (overall and by phenotype).
Methods: Data were extracted from the Clarivate Real-World Data repository (2016-2023). Given the lack of established coding for ATTR amyloidosis, we used different combinations of diagnostic codes to obtain narrow and broad estimates of incident and prevalent cases in the USA in 2022. Temporal trends (2019-2022) were also assessed.
Results: Using narrow definitions, the 2022 estimated incidence of ATTR amyloidosis overall, ATTR-CM, ATTR-PN and ATTR-mixed was 16.6, 12.7, 3.5 and 1.9 cases per million people, respectively; the corresponding prevalence estimates were 59.8, 41.1, 15.1 and 9.8 cases per million people. Estimates were consistently lower with the narrow (vs broad) definitions. Over time, the incidence and prevalence of ATTR amyloidosis overall increased, driven by ATTR-CM cases. No major changes were reported for the other phenotypes.
Conclusion: This study provides comprehensive and up-to-date epidemiological data for ATTR amyloidosis in the USA. Our findings corroborate the need for appropriate differential diagnostic coding and standardised criteria.
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