Stato dell’arte e progetti della Rete Italiana della Malattia di Anderson-Fabry

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.