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


Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
28 05 2021
Historique:
received: 18 05 2021
revised: 23 05 2021
accepted: 27 05 2021
entrez: 2 6 2021
pubmed: 3 6 2021
medline: 28 12 2021
Statut: epublish

Résumé

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.

Identifiants

pubmed: 34071271
pii: genes12060829
doi: 10.3390/genes12060829
pmc: PMC8228008
pii:
doi:

Types de publication

Journal Article Research Support, Non-U.S. Gov't

Langues

eng

Sous-ensembles de citation

IM

Références

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Auteurs

Marco Luigetti (M)

Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Neurologia, 00168 Rome, Italy.
Università Cattolica del Sacro Cuore, Sede di Roma, Largo A. Gemelli 8, 00168 Roma, Italy.

Valeria Guglielmino (V)

Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC Neurologia, 00168 Rome, Italy.
Università Cattolica del Sacro Cuore, Sede di Roma, Largo A. Gemelli 8, 00168 Roma, Italy.

Giovanni Antonini (G)

Unit of Neuromuscular Diseases, Department of Neurology, Mental Health and Sensory Organs (NESMOS) SAPIENZA University, Sant'Andrea Hospital, 00189 Rome, Italy.

Carlo Casali (C)

Department of SBMC, Sapienza University, 00161 Rome, Italy.

Marco Ceccanti (M)

Neuromuscular Rare Disease Center, Department of Human Neurosciences, University of Rome La Sapienza, 00189 Rome, Italy.

Maria Grazia Chiappini (MG)

Fatebenefratelli Foundation-'San Giovanni Calibita' Fatebenefratelli Hospital, Clinical Pathophysiology Center, 00186 Rome, Italy.

Laura De Giglio (L)

San Filippo Neri Hospital, Neuromuscular and Rare Neurological Diseases Center, Neurology Unit, 00135 Rome, Italy.

Vincenzo Di Lazzaro (V)

Unit of Neurology, Neurobiology, Department of Medicine, University Campus Bio-Medico of Rome, 00128 Rome, Italy.

Antonio Di Muzio (A)

Centro Malattie Neuromuscolari, Clinica Neurologia, Ospedale Clinicizzato Chieti, 66100 Chieti, Italy.

Mariangela Goglia (M)

Neuromuscular Diseases Unit, Department of Systems Medicine, Tor Vergata University of Rome, 00133 Rome, Italy.

Maurizio Inghilleri (M)

Neuromuscular Rare Disease Center, Department of Human Neurosciences, University of Rome La Sapienza, 00189 Rome, Italy.

Luca Leonardi (L)

Unit of Neuromuscular Diseases, Department of Neurology, Mental Health and Sensory Organs (NESMOS) SAPIENZA University, Sant'Andrea Hospital, 00189 Rome, Italy.

Roberto Massa (R)

Neuromuscular Diseases Unit, Department of Systems Medicine, Tor Vergata University of Rome, 00133 Rome, Italy.

Elena Maria Pennisi (EM)

San Filippo Neri Hospital, Neuromuscular and Rare Neurological Diseases Center, Neurology Unit, 00135 Rome, Italy.

Antonio Petrucci (A)

Center for Neuromuscular and Neurological Rare Diseases, Neurology and Neurophysiology Unit, San Camillo Forlanini Hospital, 00152 Rome, Italy.

Emanuela Proietti (E)

Fatebenefratelli Foundation-'San Giovanni Calibita' Fatebenefratelli Hospital, Clinical Pathophysiology Center, 00186 Rome, Italy.

Marianna Rispoli (M)

Centro Malattie Neuromuscolari, Clinica Neurologia, Ospedale Clinicizzato Chieti, 66100 Chieti, Italy.

Mario Sabatelli (M)

Università Cattolica del Sacro Cuore, Sede di Roma, Largo A. Gemelli 8, 00168 Roma, Italy.
Centro Clinico NEMO Adulti, 00168 Rome, Italy.

Marco Di Girolamo (M)

Fatebenefratelli Foundation-'San Giovanni Calibita' Fatebenefratelli Hospital, Clinical Pathophysiology Center, 00186 Rome, Italy.

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