- •The exact prevalence transthyretin amyloidosis (ATTR) is still largely unknown.
- •Available data so far are mostly drawn from insurance claims or registries.
- •Prevalence of ATTRwt and ATTRv is 90.3 and 9.5 per million based on data from a Tuscany registry of rare diseases.
- •ATTR is increasingly being recognized and is less uncommon than previously believed.
The limited available data regarding the prevalence of transthyretin amyloidosis, both for wild-type (ATTRwt) and hereditary form (ATTRv), is inferred from highly selected patients and subsequent extrapolations that limit the comprehension of the clinical disease impact. The Tuscan healthcare system in 2006 developed a web-based rare disease registry, to monitor and profile patients affected by rare diseases.
Clinicians belonging to regional validated healthcare data centres can register patients at the diagnosis, with a rigorous approach and distinguishing the types of amyloidosis, i.e., ATTRwt versus ATTRv. Thanks to this data collection method, available from July 2006 and extended with electronic therapy plans related to a diagnosis since May 2017, we analysed prevalence and incidence of ATTR and its subtypes. On November 30th 2022, ATTRwt prevalence in Tuscany is 90.3 per 1,000,000 persons and ATTRv prevalence is 9.5 per 1,000,000 persons, whereas the annual incidence ranges from 14.4 to 26.7 per 1,000,000 persons and from 0.8 to 2.7 per 1,000,000 persons, respectively. The male gender is predominant in both forms. All except one patient showed evidence of cardiomyopathy. This epidemiological data requires attention, not only to increase the effort for the clinical management and earlier diagnosis, but also to underline the need for the disease-specific treatments.
Abbreviations:AL (light-chain), ATTR (transthyretin cardiac amyloidosis), TTR (transthyretin), ATTRv (variant ATTR), ATTRwt (wild-type ATTR)
To read this article in full you will need to make a payment
Purchase one-time access:Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
One-time access price info
- For academic or personal research use, select 'Academic and Personal'
- For corporate R&D use, select 'Corporate R&D Professionals'
Subscribe:Subscribe to International Journal of Cardiology
Already a print subscriber? Claim online access
Already an online subscriber? Sign in
Register: Create an account
Institutional Access: Sign in to ScienceDirect
- Natural history of wild-type transthyretin cardiac amyloidosis and risk stratification using a novel staging system.J. Am. Coll. Cardiol. 2016; 68: 1014-1020https://doi.org/10.1016/j.jacc.2016.06.033
- Early diagnosis and outcome in patients with wild-type transthyretin cardiac amyloidosis.Mayo Clin. Proc. 2021; 96: 2185-2191https://doi.org/10.1016/j.mayocp.2021.04.021
- Changes in the perceived epidemiology of amyloidosis: 20 year-experience from a Tertiary Referral Centre in Tuscany.Int. J. Cardiol. 2021; 335: 123-127https://doi.org/10.1016/j.ijcard.2021.04.023
- ATTRv amyloidosis Italian Registry: clinical and epidemiological data.Amyloid. 2020; 27: 259-265https://doi.org/10.1080/13506129.2020.1794807
- Incidence of light chain amyloidosis in Florence metropolitan area, Italy: a population-based study.Amyloid. 2021; 28: 211-212https://doi.org/10.1080/13506129.2021.1898365
- Global epidemiology of amyloid light-chain amyloidosis.Orphanet J. Rare Dis. 2022; 17: 278https://doi.org/10.1186/s13023-022-02414-6
- Redefining the epidemiology of cardiac amyloidosis. A systematic review and meta-analysis of screening studies.Eur. J. Heart Fail. 2022; (Epub ahead of print)https://doi.org/10.1002/ejhf.2532
- Nonbiopsy diagnosis of cardiac transthyretin amyloidosis.Circulation. 2016 Jun 14; 133: 2404-2412https://doi.org/10.1161/CIRCULATIONAHA.116.021612
- Prevalence, characteristics, and mortality of patients with transthyretin amyloid cardiomyopathy in the Nordic countries.ESC Heart Fail. 2022; 9: 2528-2537https://doi.org/10.1002/ehf2.13961
- Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy.N. Engl. J. Med. 2018; 379: 1007-1016https://doi.org/10.1056/NEJMoa1805689
- Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in Central Italy.Eur. J. Hum. Genet. 2022; https://doi.org/10.1038/s41431-022-01235-2
- Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure.Eur. J. Heart Fail. 2018 Oct; 20: 1417-1425https://doi.org/10.1002/ejhf.1285
- The Val142Ile transthyretin cardiac amyloidosis: not only an Afro-American pathogenic variant? A single-centre Italian experience.J. Cardiovasc. Med. (Hagerstown). 2016 Feb; 17 (10.2459/JCM.0000000000000290): 122-125
Published online: March 31, 2023
Accepted: March 28, 2023
Received in revised form: March 13, 2023
Received: December 15, 2022
© 2023 Elsevier B.V. All rights reserved.