AUTHOR=De Marco Oriana , Gambardella Jessica , Bianco Antonio , Fiordelisi Antonella , Cerasuolo Federica Andrea , Buonaiuto Antonietta , Avvisato Roberta , Capuano Ivana , Amicone Maria , Di Risi Teodolinda , Riccio Eleonora , Spinelli Letizia , Pisani Antonio , Iaccarino Guido , Sorriento Daniela TITLE=Cardiopulmonary determinants of reduced exercise tolerance in Fabry disease JOURNAL=Frontiers in Cardiovascular Medicine VOLUME=11 YEAR=2024 URL=https://www.frontiersin.org/journals/cardiovascular-medicine/articles/10.3389/fcvm.2024.1396996 DOI=10.3389/fcvm.2024.1396996 ISSN=2297-055X ABSTRACT=

Fabry disease (FD), also known as Anderson-Fabry disease, is a hereditary disorder of glycosphingolipid metabolism, caused by a deficiency of the lysosomal alpha-galactosidase A enzyme. This causes a progressive accumulation of glycosphingolipids in tissues and organs which represents the main pathogenetic mechanism of FD. The disease is progressive and multisystemic and is characterized by early symptoms and late complications (renal, cardiac and neurological dysfunction). Fatigue and exercise intolerance are early common symptoms in FD patients but the specific causes are still to be defined. In this narrative review, we deal with the contribution of cardiac and pulmonary dysfunctions in determining fatigue and exercise intolerance in FD patients.