Heart failure & cardiomyopathies
Change in prevalence of ATTR variants in Italy: results from a national survey
Authors' 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.
Study context
- Population
- Alive patients with hereditary transthyretin amyloidosis (ATTRv) diagnosed 2004–2024, Italyin active follow-up
- Participants
- 373 patients
- Outcome
- National prevalence of ATTRv
- Follow-up
- March 2024
Methodological detailsnational survey, 16 Italian referral centres
- National survey
- 16 Italian referral centres
Main finding
As reported in the abstract
ATTRv prevalence
National prevalence (2024), increased from 2020 survey
6.33/million
Prevalence in 2020 (previous estimate)
4.33/million
Observational data: associations, not effects.
Further findings
Most prevalent mutations
- Ile68Leu
- 25.1%
- Phe64Leu
- 21.9%
- Val30Met
- 19.3%
- Glu89Gln
- 10.7%
- Val122Ile
- 6.7%
- Ile68Leu, Val122Ile, Val30Met more common in Northern and Central Italy; Glu89Gln, Phe64Leu prevalent in Southern Italy
Phenotype
- CV
- 35.6%
- Neuropathic
- 33.2%
- Mixed
- 31.2%
Referral to disease-specific therapy
- Mirrored the change in epidemiology
Original publication
Change in prevalence of ATTR variants in Italy: results from a national survey. Eur Heart J Qual Care Clin Outcomes. Published 20 May 2025. doi:10.
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