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. 2021 May 28;12(6):829.
doi: 10.3390/genes12060829.

ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country

Marco Luigetti  1   2 , Valeria Guglielmino  1   2 , Giovanni Antonini  3 , Carlo Casali  4 , Marco Ceccanti  5 , Maria Grazia Chiappini  6 , Laura De Giglio  7 , Vincenzo Di Lazzaro  8 , Antonio Di Muzio  9 , Mariangela Goglia  10 , Maurizio Inghilleri  5 , Luca Leonardi  3 , Roberto Massa  10 , Elena Maria Pennisi  7 , Antonio Petrucci  11 , Emanuela Proietti  6 , Marianna Rispoli  9 , Mario Sabatelli  2   12 , Marco Di Girolamo  6
Affiliations

ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country

Marco Luigetti et al. Genes (Basel). .

Abstract

Hereditary transthyretin amyloidosis (ATTRv, v for variant) prevalence in Italy, a non-endemic region, has been established by ATTRv amyloidosis Italian Registry. However, values of prevalence were extremely heterogeneous, considering different regions. To properly establish the prevalence of the disease in the Lazio region, a survey was sent to university regional hospitals and to main regional hospitals, in order to collect all affected patients regularly followed. We identified 100 ATTRv patients and, considering a Lazio population of 5.8/million, we estimated a ATTRv prevalence of 17.2/million. The ATTRv amyloidosis Italian Registry reported a prevalence of 8.0/million in Lazio, while our survey showed a value of double this. Our survey documented a high-prevalence for a non-endemic country. The increased awareness of the disease among general practitioners and medical specialists is a fundamental step to reduce the diagnostic delay and start an effective treatment of this disease.

Keywords: ATTRv; amyloid; prevalence.

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Conflict of interest statement

Marco Luigetti, received financial grants (honoraria and speaking) from Akcea, Alnylam and Pfizer, and travel grants from Akcea, Alnylam, Pfizer, Kedrion, and Grifols. Giovanni Antonini, received honoraria from Kedrion, Alnylam, Syneos, and Farmitalia; and travel grants from Kedrion, Pfeizer, Alnylam, Sanofi-Genzime, and Akcea. Roberto Massa received honoraria from Akcea, Alnylam, Genzyme, and Lundbeck. Elena Maria Pennisi received travel grants and honoraria from Akcea and Sanofi Genzyme, and research fund from Ultragenyx. Mario Sabatelli received financial grants (honoraria and speaking) from Akcea, and travel grants from Grifols. Other authors have no potential conflicts of interest to be disclosed. The funders had no role in the design of the study; in the collection, analyses, or interpretation of data; in the writing of the manuscript, or in the decision to publish the results.

Figures

Figure 1
Figure 1
Distribution of TTR mutations in Lazio region among different provinces. Diameter of circles is proportional to number of patients.
See this image and copyright information in PMC

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