EJHaem · 2026
Real-World Diagnostic Workup of Patients Suspected for Light Chain Amyloidosis and Wild-Type Transthyretin Amyloid Cardiomyopathy: A Retrospective Cohort Study Using US Electronic Health Records.
СтатьяНазвание и аннотация: Перевод в очереди
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Baljevic Muhamed, Chung Haechung, Alvir Jose, Feron Patrick, Crowley Aaron, Benjumea Darrin, Chen Yong, Pankratova Cindi
Аннотация
INTRODUCTION: Light chain (AL) amyloidosis and transthyretin amyloid cardiomyopathy (ATTR-CM) are the most common types of cardiac amyloidosis. Despite similar manifestations, prognosis and treatments are distinct, emphasizing the importance of accurate and timely diagnosis. This retrospective cohort study assessed real-world diagnostic workups of adult patients suspected of having AL amyloidosis, wild-type ATTR-CM (ATTRwt-CM), or both (AL amyloidosis + ATTRwt-CM).
METHODS: Data were extracted from a large electronic health record and integrated claims-clinical database (January 2017-June 2023). Workups within 24 months before the first recorded diagnosis were assessed in cohorts with AL amyloidosis (International Classification of Diseases, Tenth Revision code: E85.81 only), ATTRwt-CM (E85.82 only), or AL amyloidosis + ATTRwt-CM (E85.81 and E85.82).
RESULTS: Of 1653, 1055, and 59 patients in the AL amyloidosis, ATTRwt-CM, and AL amyloidosis + ATTRwt-CM cohorts, respectively, 53%, 61%, and 66% received any type of AL amyloidosis or ATTRwt-CM test. Across respective cohorts, 42%, 40%, and 49% received an AL amyloidosis workup, and 17%, 15%, and 17% underwent complete monoclonal protein testing (MPT) for AL amyloidosis assessment. In the ATTRwt-CM and AL amyloidosis + ATTRwt-CM cohorts, 50% and 46% received an ATTRwt-CM workup, and 9% and 5% underwent complete MPT before or ≤ 7 days after 99mtechnetium-pyrophosphate scintigraphy. Diagnostic workups were commonly done by cardiac specialists (≥ 34%) and general medicine providers (≥ 29%).
CONCLUSIONS: Notable proportions of patients suspected of having AL amyloidosis, ATTRwt-CM, and AL amyloidosis + ATTRwt-CM did not undergo adequate guideline-recommended diagnostic testing. Due to clinical urgency, improving disease and diagnostic awareness among clinicians is necessary for early, accurate diagnosis and treatment.
TRIAL REGISTRATION: The authors have confirmed clinical trial registration is not needed for this submission.
METHODS: Data were extracted from a large electronic health record and integrated claims-clinical database (January 2017-June 2023). Workups within 24 months before the first recorded diagnosis were assessed in cohorts with AL amyloidosis (International Classification of Diseases, Tenth Revision code: E85.81 only), ATTRwt-CM (E85.82 only), or AL amyloidosis + ATTRwt-CM (E85.81 and E85.82).
RESULTS: Of 1653, 1055, and 59 patients in the AL amyloidosis, ATTRwt-CM, and AL amyloidosis + ATTRwt-CM cohorts, respectively, 53%, 61%, and 66% received any type of AL amyloidosis or ATTRwt-CM test. Across respective cohorts, 42%, 40%, and 49% received an AL amyloidosis workup, and 17%, 15%, and 17% underwent complete monoclonal protein testing (MPT) for AL amyloidosis assessment. In the ATTRwt-CM and AL amyloidosis + ATTRwt-CM cohorts, 50% and 46% received an ATTRwt-CM workup, and 9% and 5% underwent complete MPT before or ≤ 7 days after 99mtechnetium-pyrophosphate scintigraphy. Diagnostic workups were commonly done by cardiac specialists (≥ 34%) and general medicine providers (≥ 29%).
CONCLUSIONS: Notable proportions of patients suspected of having AL amyloidosis, ATTRwt-CM, and AL amyloidosis + ATTRwt-CM did not undergo adequate guideline-recommended diagnostic testing. Due to clinical urgency, improving disease and diagnostic awareness among clinicians is necessary for early, accurate diagnosis and treatment.
TRIAL REGISTRATION: The authors have confirmed clinical trial registration is not needed for this submission.