Stato dell’arte e progetti della Rete Italiana della Malattia di Anderson-Fabry
Year: 2025
Type: article
Abstract: Anderson-Fabry disease is a panethnic, rare disease caused by α-galactosidase A deficiency, with subsequent systemic intracellular accumulation of glycosphingolipids. Confined as a nephrological disease for many decades, the widespread use of multimodality imaging techniques over the last 20 years (like cardiac magnetic resonance) has allowed to highlight the frequent and heterogeneous cardiovascular involvement, with important impact on therapeutic strategies and prognosis. However, many grey zones and knowledge gaps remain, both in diagnostic and management approaches. Recently, the Italian Society of Cardiology has promoted the constitution of the Italian Fabry Disease Cardiovascular Registry, aiming to expand our understanding of the disease focusing on cardiovascular manifestations and complications, to improve quality of care and outcomes of these patients.
Source: Giornale italiano di cardiologia
DOI: 10.1714/4542.45431
Authors: Elena Biagini, Giuseppe Limongelli, Vanda Parisi, Francesco Cappelli, Francesca Graziani, Emanuele Monda, Iacopo Olivotto, Maurizio Pieroni, Marta Rubino, Raffaello Ditaranto, Serena Serratore, Maria Alessandra Schiavo, Gianfranco Sinagra, Ciro Indolfi, Pasquale Perrone Filardi, a nome del Registro Italiano della Malattia di Anderson-Fabr
Institutions: IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola, University of Campania "Luigi Vanvitelli", Ospedale Monaldi, Azienda Ospedaliero-Universitaria Careggi, Agostino Gemelli University Polyclinic, Istituti di Ricovero e Cura a Carattere Scientifico, University of Calabria
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W4413970066