Key result
Diagnostic barriers in resource-limited settings contribute to delayed AL cardiac amyloidosis diagnosis and advanced disease.
Why the study?
Amyloid light chain (AL) cardiac amyloidosis remains a diagnostic challenge in resource-limited settings.
Case Report (n=3)
Highlights the significant diagnostic and therapeutic barriers for AL cardiac amyloidosis in resource-limited settings, leading to delayed diagnosis and poor outcomes.
Answers are grounded in this paper and cite their sources.
Urges caution with screening biopsies alone in suspected AL amyloidosis; leaves open optimal diagnostic and therapeutic strategies in resource-limited settings.
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.
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Torres‐Valencia et al. (2026) conducted a case report in AL cardiac amyloidosis (n=3). CyBorD-based therapy was evaluated. Three cases of AL cardiac amyloidosis in resource-limited settings highlight how diagnostic barriers, such as unavailable mass spectrometry, contribute to delayed diagnosis and advanced disease.
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