Diagnosis and outcomes of cardiac amyloidosis in Egypt: a tertiary care facility experience

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Abstract Background Cardiac amyloidosis is an infiltrative cardiomyopathy caused by extracellular deposition of insoluble amyloid fibrils. Despite the growing global recognition of cardiac amyloidosis and the recent development of targeted therapeutic strategies for specific amyloidosis subtypes, demographic and epidemiological data regarding cardiac amyloidosis in Egypt remain limited. Objectives To describe the demographic and clinical characteristics of cardiac amyloidosis in Egyptian patients; and to identify diagnostic challenges and disease related-outcomes. Methods This single-center, prospective, observational study included all patients with suspected cardiac amyloidosis who presented to or were referred to Alexandria Main University Hospital between November 2021 and June 2025. Clinical, laboratory, electrocardiographic and echocardiographic data were collected using paper-based case report forms and electronic medical records. Additional investigations were performed according to their availability, the patient's clinical profile and the suspected subtype of cardiac amyloidosis. The final diagnosis was established based on the results of all investigations, together with histopathological examination of available biopsy specimens. Results The study initially enrolled 75 patients with suspected cardiac amyloidosis, of whom 61 were confirmed to have the disease. The mean interval from symptom onset to diagnosis was 11.6 months. The most common subtype was AL amyloidosis, accounting for 52.5% of cases, followed by AA amyloidosis in 18.0% of the study population. ATTR amyloidosis and dialysis-associated amyloidosis were identified in 4.9 and 1.6% of patients, respectively. The specific amyloidosis subtype could not be determined in 23.0% of patients because of death before completion of the diagnostic workup, limited availability of diagnostic modalities, or refusal to undergo further diagnostic testing. New complications developed in 23% of the study papulation and 49.2% of patients died during the study period. Conclusions Numerous challenges currently hinder accurate diagnosis and management of cardiac amyloidosis in Egypt; and can be summarized as follows:1) PYP scintigraphy is available in limited number of centers across Egypt with inconsistent availability of radio tracers; 2) unavailability of cardiac biopsy performing kits; 3) Immunohistochemistry remains the only available modality for histological typing and identification of specific amyloidosis subtypes, and is accessible in only a limited number of pathology laboratories; 4) limited availability and high cost of genetic testing required for the diagnosis of familial types and 5) lack of awareness among physicians about the disease red flags and available therapies. Raising awareness about the disease among health care professionals together with establishment of specialized amyloidosis centers, that integrate different specialties involved in disease diagnosis and management, is crucial to ensure timely diagnosis and optimal patient care. Larger multicenter studies are required to more accurately characterize the epidemiology and overall disease burden of cardiac amyloidosis in Egypt.