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...

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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
Descripción
Sumario: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.