Cargando…

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

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 di...

Descripción completa

Detalles Bibliográficos
Autores principales: Luigetti, Marco, Guglielmino, Valeria, Antonini, Giovanni, Casali, Carlo, Ceccanti, Marco, Chiappini, Maria Grazia, De Giglio, Laura, Di Lazzaro, Vincenzo, Di Muzio, Antonio, Goglia, Mariangela, Inghilleri, Maurizio, Leonardi, Luca, Massa, Roberto, Pennisi, Elena Maria, Petrucci, Antonio, Proietti, Emanuela, Rispoli, Marianna, Sabatelli, Mario, Di Girolamo, Marco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8228008/
https://www.ncbi.nlm.nih.gov/pubmed/34071271
http://dx.doi.org/10.3390/genes12060829
_version_ 1783712641733099520
author Luigetti, Marco
Guglielmino, Valeria
Antonini, Giovanni
Casali, Carlo
Ceccanti, Marco
Chiappini, Maria Grazia
De Giglio, Laura
Di Lazzaro, Vincenzo
Di Muzio, Antonio
Goglia, Mariangela
Inghilleri, Maurizio
Leonardi, Luca
Massa, Roberto
Pennisi, Elena Maria
Petrucci, Antonio
Proietti, Emanuela
Rispoli, Marianna
Sabatelli, Mario
Di Girolamo, Marco
author_facet Luigetti, Marco
Guglielmino, Valeria
Antonini, Giovanni
Casali, Carlo
Ceccanti, Marco
Chiappini, Maria Grazia
De Giglio, Laura
Di Lazzaro, Vincenzo
Di Muzio, Antonio
Goglia, Mariangela
Inghilleri, Maurizio
Leonardi, Luca
Massa, Roberto
Pennisi, Elena Maria
Petrucci, Antonio
Proietti, Emanuela
Rispoli, Marianna
Sabatelli, Mario
Di Girolamo, Marco
author_sort Luigetti, Marco
collection PubMed
description 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.
format Online
Article
Text
id pubmed-8228008
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-82280082021-06-26 ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country Luigetti, Marco Guglielmino, Valeria Antonini, Giovanni Casali, Carlo Ceccanti, Marco Chiappini, Maria Grazia De Giglio, Laura Di Lazzaro, Vincenzo Di Muzio, Antonio Goglia, Mariangela Inghilleri, Maurizio Leonardi, Luca Massa, Roberto Pennisi, Elena Maria Petrucci, Antonio Proietti, Emanuela Rispoli, Marianna Sabatelli, Mario Di Girolamo, Marco Genes (Basel) Brief Report 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. MDPI 2021-05-28 /pmc/articles/PMC8228008/ /pubmed/34071271 http://dx.doi.org/10.3390/genes12060829 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Brief Report
Luigetti, Marco
Guglielmino, Valeria
Antonini, Giovanni
Casali, Carlo
Ceccanti, Marco
Chiappini, Maria Grazia
De Giglio, Laura
Di Lazzaro, Vincenzo
Di Muzio, Antonio
Goglia, Mariangela
Inghilleri, Maurizio
Leonardi, Luca
Massa, Roberto
Pennisi, Elena Maria
Petrucci, Antonio
Proietti, Emanuela
Rispoli, Marianna
Sabatelli, Mario
Di Girolamo, Marco
ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country
title ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country
title_full ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country
title_fullStr ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country
title_full_unstemmed ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country
title_short ATTRv in Lazio-Italy: A High-Prevalence Region in a Non-Endemic Country
title_sort attrv in lazio-italy: a high-prevalence region in a non-endemic country
topic Brief Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8228008/
https://www.ncbi.nlm.nih.gov/pubmed/34071271
http://dx.doi.org/10.3390/genes12060829
work_keys_str_mv AT luigettimarco attrvinlazioitalyahighprevalenceregioninanonendemiccountry
AT guglielminovaleria attrvinlazioitalyahighprevalenceregioninanonendemiccountry
AT antoninigiovanni attrvinlazioitalyahighprevalenceregioninanonendemiccountry
AT casalicarlo attrvinlazioitalyahighprevalenceregioninanonendemiccountry
AT ceccantimarco attrvinlazioitalyahighprevalenceregioninanonendemiccountry
AT chiappinimariagrazia attrvinlazioitalyahighprevalenceregioninanonendemiccountry
AT degigliolaura attrvinlazioitalyahighprevalenceregioninanonendemiccountry
AT dilazzarovincenzo attrvinlazioitalyahighprevalenceregioninanonendemiccountry
AT dimuzioantonio attrvinlazioitalyahighprevalenceregioninanonendemiccountry
AT gogliamariangela attrvinlazioitalyahighprevalenceregioninanonendemiccountry
AT inghillerimaurizio attrvinlazioitalyahighprevalenceregioninanonendemiccountry
AT leonardiluca attrvinlazioitalyahighprevalenceregioninanonendemiccountry
AT massaroberto attrvinlazioitalyahighprevalenceregioninanonendemiccountry
AT pennisielenamaria attrvinlazioitalyahighprevalenceregioninanonendemiccountry
AT petrucciantonio attrvinlazioitalyahighprevalenceregioninanonendemiccountry
AT proiettiemanuela attrvinlazioitalyahighprevalenceregioninanonendemiccountry
AT rispolimarianna attrvinlazioitalyahighprevalenceregioninanonendemiccountry
AT sabatellimario attrvinlazioitalyahighprevalenceregioninanonendemiccountry
AT digirolamomarco attrvinlazioitalyahighprevalenceregioninanonendemiccountry