Short communicationPrevalence of transthyretin-related amyloidosis in Tuscany: Data from the regional population-based registry
Section snippets
Methods
Since July 2006 the Tuscan health care system has developed a web-based rare disease registry, to monitor and profile patients affected by rare diseases (https://malattierare.toscana.it/dati-statistici/registro-toscano-malattie-rare/), for all rare diseases (RDs) in Italian ministerial decree attachments since 2001 until 2017, including amyloidosis; the registry is managed by FTGM (Fondazione Toscana Gabriele Monasterio for medical and public health research in Pisa). This web-based
Results
From July 2006 to November 2022, 367 alive patients with ATTR had been registered in Tuscany, including 332 with ATTRwt and 35 patients with ATTRv. This translates into an estimated prevalence of 90.3 per 1,000,000 for ATTRwt and 9.5 per 1,000,000 for ATTRv. The annual incidence ranged from 14.4 to 26.7 per 1,000,000 for ATTRwt and from 0.8 to 2.7 per 1,000,000 for ATTRv. Mean age at diagnosis of the 367 patients was 74 years. Two-thirds of patients with ATTRwt were in the 80–99 year age-range,
Discussion
The prevalence of ATTRwt and ATTRv in Tuscany is 90.3 and 9.5 per million respectively, with an annual incidence ranging from 14.4 to 26.7 and from 0.8 to 2.7 per million respectively, an increasing trend in diagnoses during the recent years. This data likely results from a greater awareness in the clinical community, an organized regional network with 2 Referral Centres in Florence and Pisa, favouring early and comprehensive diagnostic process, allowing rapid ATTR diagnoses, as well as an
Disclosures
Iacopo Olivotto: Advisory board and research grants from: Bristol Myers Squibb, Cytokinetics, Boston Scientific, Sanofi Genzyme, Amicus, Menarini International, Bayer, Tenaya, Rocket Pharma.
Francesco Cappelli: Advisory board and research grants from Pfizer, Alnylam, Novonordisk.
Federico Perfetto: Advisory board and research grants from Pfizer, Alnylam, Akcea Federico.
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These authors equally contributed to this work.