Hereditary Transthyretin Amyloidosis in Austria: Clinical, Genetic, and Demographic Insights from a Nationwide Cohort
Year: 2026
Type: article
Study design: Observational Study
Abstract: Background/Objectives: Hereditary transthyretin amyloidosis (ATTRv) is a heterogeneous multisystem disease caused by pathogenic transthyretin gene (TTR) variants. Increased awareness and availability of disease-modifying therapies have resulted in increased diagnoses, even in previously nonendemic regions. The aim of this study was to update the nationwide Austrian ATTRv registry by characterizing the clinical, genetic, and regional distribution of TTR variants. Methods: This multicenter, observational analysis examined ATTRv cases diagnosed in Austria between 2014 and 2025. Individuals were included according to the presence of pathogenic or likely pathogenic variants or variants of uncertain significance (VUSs) in TTR. Results: In total, 100 individuals were identified, including symptomatic and asymptomatic carriers. Compared with our previously presented data, the number of genetically confirmed ATTRv cases has more than doubled. Twenty-three TTR variants were identified. The most frequent pathologic variants were p.His108Arg (26%), p.Ile127Phe (11%), and p.Thr69Ile (9%), while p.Val113Leu (9%) represented the most frequent VUS. Significant regional clustering of p.His108Arg was documented in Vienna and Lower Austria. Other findings included a rising number of p.Val142Ile carriers and phenotypically relevant VUSs in 20 patients. Conclusions: Our findings revealed an increasing detection rate of ATTRv in a nonendemic European region. These data underscore the importance of multidisciplinary evaluation, cascade testing, and long-term monitoring to improve early diagnosis and timely management in hereditary amyloidosis.
Source: Journal of Clinical Medicine
DOI: 10.3390/jcm15051958
Authors: Nikita Ermolaev, Wolfgang N. Löscher, Nicolas Verheyen, Gerhard Pölzl, Klemens Ablasser, Hermine Agis, Christina Binder, Diana Bonderman, Hakan Cetin, Franz Duca, Theresa Antonia Griedl, Sandra Hacker, Viktoria Höller, Andreas Kammerlander, Lukas Kellermair, Vera E. A. Kleinveld, Christina Kronberger, Deddo Mörtl, Michael Poledniczek, Christian Reiter, Rene Rettl, Lena Marie Schmid, Nora Schwegel, Elisabeth Schaumberger, Raute Sunder-Plassmann, Maria Ungericht, Reinhard Windhager, Fritz Zimprich, Roza Badr Eslam, Michaela Auer-Grumbach
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,137
Funders: Pfizer, Austrian Science Fund
Award: G5169857402
OpenAlex ID: W7133540434