Hereditary Transthyretin Amyloidosis in Austria : Clinical, Genetic, and Demographic Insights from a Nationwide Cohort
Recent Publication
An Austria-wide registry study with the participation of OA Dr Deddo Mörtl (UK St. Pölten) provides new insights into hereditary transthyretin amyloidosis. This is a rare hereditary disease in which misfolded proteins are deposited in organs such as the heart and nerves and cause damage there. The analysis shows that the number of diagnosed cases in Austria has more than doubled in recent years - partly due to better diagnostics. Various genetic variants were also identified, with regional clusters particularly in Vienna and Lower Austria. The results emphasise the importance of early diagnosis, genetic clarification and specialised care for affected patients.
rmolaev, N., Löscher, W. N., Verheyen, N., Pölzl, G., Ablasser, K., Agis, H., Binder, C., Bonderman, D., Cetin, H., Duca, F., Griedl, T. A., Hacker, S., Höller, V., Kammerlander, A., Kellermair, L., Kleinveld, V. E. A., Kronberger, C., Mörtl, D., Poledniczek, M., ... Auer-Grumbach, M. (2026). Hereditary Transthyretin Amyloidosis in Austria: Clinical, Genetic, and Demographic Insights from a Nationwide Cohort. Journal of Clinical Medicine, 15(5), Article 1958. https://doi.org/10.3390/jcm15051958
OA Dr. Deddo Mörtl
Division of Internal Medicine 3 (University Hospital St. Pölten)