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AL Cardiac Amyloidosis in Resource-Limited Settings: Diagnostic Challenges and Therapeutic Gaps
Javier Torres-Valencia1, Gabriela Zavaleta-Camacho1, Luisser Saavedra-Cordova1
1Department of Cardiology, Hospital Nacional Edgardo Rebagliati Martins, Lima, Peru.
Insights
Diagnosing cardiac amyloidosis in resource-limited areas is difficult. This study highlights challenges in identifying amyloid light chain (AL) amyloidosis, leading to delayed treatment and varied patient outcomes.
Area of Science:
- Cardiology
- Hematology
- Medical Diagnostics
Background:
- Amyloid light chain (AL) cardiac amyloidosis presents diagnostic challenges, particularly in resource-limited settings.
- Echocardiography can reveal characteristic patterns like left ventricular hypertrophy with apical sparing strain.
- Serum free light chains and biopsy results can be complex, sometimes requiring invasive procedures for definitive diagnosis.
Abstract:
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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