Highlights
- •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.
Abstract
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.
Keywords
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
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Article info
Publication history
Published online: March 31, 2023
Accepted:
March 28,
2023
Received in revised form:
March 13,
2023
Received:
December 15,
2022
Identification
Copyright
© 2023 Elsevier B.V. All rights reserved.
