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. 2025 May 20:qcaf024.
doi: 10.1093/ehjqcco/qcaf024. Online ahead of print.

Change in prevalence of ATTR variants in Italy - Results from a National Survey

Carlo Fumagalli  1   2 , Simone Longhi  3 , Alberto Aimo  4 , Alessia Argirò  2 , Alessandro Barilaro  5 , Elena Biagini  3 , Giulia Biagioni  2 , Marco Ceccanti  6 , Alberto Cipriani  7 , Cristina Chimenti  8 , Laura De Michieli  7 , Gianluca Di Bella  9 , Michele Emdin  4   10 , Francesca Graziani  11 , Pietro Guaraldi  3 , Massimo Imazio  12 , Giuseppe Limongelli  13 , Carla Lofiego  14 , Marco Luigetti  15   16 , Stefania Marazia  17 , Filomena My  18 , Francesco Musca  19 , Paolo Ossola  19 , Giovanni Palladini  20 , Stefano Perlini  20 , Aldostefano Porcari  21   22 , Roberta Mussinelli  20 , Beatrice Musumeci  23 , Giuseppe Palmiero  13 , Federico Perfetto  2 , Massimo Russo  24 , Giacomo Tini  23 , Giuseppe Vergaro  4 , Fabio Vagnarelli  14 , Federica Verrillo  13 , Guerino Giuseppe Varrà  21 , Maria Ausilia Sciarrone  16 , Gianfranco Sinagra  21 , Marco Merlo  21 , Laura Obici  20 , Francesco Cappelli  2
Affiliations

Change in prevalence of ATTR variants in Italy - Results from a National Survey

Carlo Fumagalli et al. Eur Heart J Qual Care Clin Outcomes. .

Abstract

Introduction: Hereditary transthyretin amyloidosis (ATTRv) is a rare, heterogenous, inherited disorder caused by over 130 gene mutations. Its prevalence was estimated to 4.33/million in 2020 in Italy. Whether growing disease awareness and improved diagnostics may have increased national diagnoses in the last 4 years is unresolved.

Methods: All alive ATTRv diagnoses from 2004 to 2024 from 16 Italian referral centers were retrospectively assessed and included in the analysis.

Results: As of March 2024, 373 ATTRv patients were in active follow up, with an overall national prevalence increased from 2020 previous survey up to 6.33/million. The most prevalent mutations were Ile68Leu (25.1%), Phe64Leu (21.9%), Val30Met (19.3%), Glu89Gln (10.7%), and Val122Ile (6.7%). Ile68Leu, Val122Ile, and Val30Met were more common in Northern and Central Italy, while Glu89Gln and Phe64Leu were prevalent in Southern Italy. Cardiovascular phenotype was the most common (35.6%), followed by neuropathic (33.2%) and mixed phenotypes (31.2%). Referral to disease-specific therapy mirrored the change in epidemiology.

Conclusion: ATTRv prevalence in Italy has increased by 50% in a 4 years' time frame, with a shift towards milder disease stages and more mixed phenotypes. These changes may reflect improved disease awareness, enhanced genetic screening, and comprehensive care in specialized centers.

Keywords: Epidemiology; Genotype; Screening; Transthyretin Cardiac Amyloidosis.

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