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.

Attrv in lazio-italy: A high-prevalence region in a non-endemic country / Luigetti, M.; Guglielmino, V.; Antonini, G.; Casali, C.; Ceccanti, M.; Chiappini, M. G.; De Giglio, L.; Di Lazzaro, V.; Di Muzio, A.; Goglia, M.; Inghilleri, M.; Leonardi, L.; Massa, R.; Pennisi, E. M.; Petrucci, A.; Proietti, E.; Rispoli, M.; Sabatelli, M.; Di Girolamo, M.. - In: GENES. - ISSN 2073-4425. - 12:6(2021), p. 829. [10.3390/genes12060829]

Attrv in lazio-italy: A high-prevalence region in a non-endemic country

Guglielmino V.;Antonini G.;Casali C.;Ceccanti M.;De Giglio L.;Goglia M.;Inghilleri M.;Leonardi L.;Sabatelli M.;
2021

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.
2021
Amyloid; ATTRv; Prevalence; Adult; Aged; Aged, 80 and over; Amyloid Neuropathies, Familial; Female; Genetic Carrier Screening; Hospitals; Humans; Italy; Male; Middle Aged; Prevalence
01 Pubblicazione su rivista::01a Articolo in rivista
Attrv in lazio-italy: A high-prevalence region in a non-endemic country / Luigetti, M.; Guglielmino, V.; Antonini, G.; Casali, C.; Ceccanti, M.; Chiappini, M. G.; De Giglio, L.; Di Lazzaro, V.; Di Muzio, A.; Goglia, M.; Inghilleri, M.; Leonardi, L.; Massa, R.; Pennisi, E. M.; Petrucci, A.; Proietti, E.; Rispoli, M.; Sabatelli, M.; Di Girolamo, M.. - In: GENES. - ISSN 2073-4425. - 12:6(2021), p. 829. [10.3390/genes12060829]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11573/1549526
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