AL Cardiac Amyloidosis in Resource-Limited Settings: Diagnostic Challenges and Therapeutic Gaps

Torres-Valencia J.; Zavaleta-Camacho G.; Saavedra-Cordova L.; Untiveros-Mayorga F.; Angulo-Garcia B.; Ronceros-Salas L.; Diaz-Arocutipa C. · JACC: Case Reports (2026) · DOI: 10.1016/j.jaccas.2026.109794

Resumen

Amyloid light chain (AL) cardiac amyloidosis remains a diagnostic challenge in resource-limited settings. We present 3 cases with varying heart failure presentations, all demonstrating concentric left ventricular hypertrophy with characteristic apical sparing strain pattern on echocardiography. Serum free light chains were consistently abnormal, though immunofixation was negative in 2 patients. Traditional screening biopsies were negative in 2 cases, requiring endomyocardial biopsy for diagnosis. Mass spectrometry for amyloid typing was unavailable; immunofluorescence performed in 1 patient confirmed lambda light chain deposition. All patients received CyBorD-based therapy; 1 patient additionally accessed daratumumab abroad and showed marked improvement, while another died within 6 months on CyBorD alone. These cases highlight the heterogeneous presentation of presumed AL amyloidosis and underscore how diagnostic barriers contribute to delayed diagnosis and more advanced disease at presentation, emphasizing the urgent need for improved diagnostic capabilities and therapeutic accessibility in resource-constrained settings.

Instituciones: Universidad San Ignacio de Loyola