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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
Monoclonal gammopathy progressing to systemic amyloidosis with cardiac involvement. A case report
Germán Valenzuela-Rodríguez1,2, Ofelia Araoz Tarco1,3, Iván Fernández Vertiz1,4
1Clínica Delgado, Lima, Peru. Clínica Delgado Lima Peru.
Abstract:
We report a case of systemic light chain amyloidosis with cardiac involvement, preceded by a monoclonal IgG lambda gammopathy. The clinical diagnosis was based on signs of heart failure, elevated cardiac biomarkers, and characteristic imaging findings. The diagnosis was confirmed by increased levels of free light chains in blood and urine, as well as the presence of amyloid deposits in periumbilical fat and multiple segments of the gastrointestinal tract. Treatment with daratumumab, bortezomib, and dexamethasone was initiated, followed by autologous hematopoietic stem cell transplantation 22 months after diagnosis, resulting in a favourable clinical outcome.
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