Folia medica · 2025
Echoes of a hidden killer: a case of oral and cardiac amyloidosis.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Kalfoutzou Areti, Mylonakis Adam, Tsantopoulos Margaritis, Chaleplidis Nikolaos, Piperis Christos, Dimitrakoudi Maria, Kounouklas Konstantinos, Bagiokou Eleftheria, Mostratou Eleni
Аннотация
Light chain amyloidosis (AL) is a rare systemic disorder caused by the accumulation of immunoglobulin light chains in various organs, most notably the heart. Its clinical presentation is often nonspecific, leading to delayed diagnosis and poor prognosis. We report the case of a 71-year-old woman who presented with macroglossia and periorbital ecchymosis, symptoms that persisted for six years before diagnosis, along with dyspnea on exertion for the past year. Comprehensive evaluation revealed AL amyloidosis with significant cardiac involvement, evidenced by echocardiographic findings of concentric ventricular wall thickening and diastolic dysfunction consistent with restrictive cardiomyopathy. Laboratory workup confirmed elevated serum free light chains (FLC), and histopathology demonstrated the presence of amyloid deposits confirming the diagnosis. This case acknowledges cardiac AL amyloidosis as a rare cause of cardiac failure with preserved ejection fraction, often accompanied by systemic manifestations of the disease such as macroglossia and periorbital ecchymosis, and highlights the critical need for high clinical suspicion and early recognition of cardiac involvement in AL patients.