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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
[What should we know about cardiac amyloidosis? From clinical signs to treatment]
Dóra Földeák1, Attila Nemes1, Anita Kalapos1
1Szent-Györgyi Albert Klinikai Központ, II. Belgyógyászati Klinika és Kardiológiai Központ, Szegedi Tudományegyetem, Általános Orvostudományi Kar Szeged, Semmelweis u. 8., 6725.
Abstract:
Systemic amyloidosis is a rare disease, in which the heart involvement is rather frequent and determines survival remarkably. Regarding the disease and organ involvement, new diagnostic procedures help to establish the diagnosis and to start the adequate treatment as soon as possible. Cardiac involvement is more likely to be characterised by monoclonal immunglobulin free light chain (AL amyloidosis) type and transthyretin type. In case of AL amyloidosis, heart involvement can lead to serious consequences. Biomarker assessments for cardiac function are important to determine disease severity at the beginning and to measure response to the treatment. In case of amyloidosis, the incidence of the heart involvement grows with age. The prevalence is not known exactly, but probably there are more cases than recognised. The authors present the clinical signs and diagnostic methods, emphasizing the importance of the cardiac examination methods. Orv Hetil. 2017; 158(46): 1811-1818.
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