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Review
. 2024 May 2:11:1396996.
doi: 10.3389/fcvm.2024.1396996. eCollection 2024.

Cardiopulmonary determinants of reduced exercise tolerance in Fabry disease

Oriana De Marco  1 , Jessica Gambardella  2   3 , Antonio Bianco  1 , Antonella Fiordelisi  3 , Federica Andrea Cerasuolo  3 , Antonietta Buonaiuto  3 , Roberta Avvisato  3 , Ivana Capuano  1 , Maria Amicone  1 , Teodolinda Di Risi  1   4 , Eleonora Riccio  1 , Letizia Spinelli  2 , Antonio Pisani  1   2 , Guido Iaccarino  2   5 , Daniela Sorriento  2   3
Affiliations
Review

Cardiopulmonary determinants of reduced exercise tolerance in Fabry disease

Oriana De Marco et al. Front Cardiovasc Med. .

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.

Keywords: Fabry disease; cardiac dysfunction; exercise intolerance; fatigue; pulmonary dysfunction.

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Conflict of interest statement

The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision.

Figures

Figure 1
Figure 1
Main cardiopulmunary determinants of exercise intolerance in Fabry patients.
See this image and copyright information in PMC

References

    1. Pisani A, Visciano B, Roux GD, Sabbatini M, Porto C, Parenti G, et al. Enzyme replacement therapy in patients with Fabry disease: state of the art and review of the literature. Mol Genet Metab. (2012) 107:267–75. 10.1016/j.ymgme.2012.08.003 - DOI - PubMed
    1. Zarate YA, Hopkin RJ. Fabry’s disease. Lancet. (2008) 372:1427–35. 10.1016/S0140-6736(08)61589-5 - DOI - PubMed
    1. Di Risi T, Cuomo M, Vinciguerra R, Ferraro S, Della Monica R, Costabile D, et al. Methylome profiling in Fabry disease in clinical practice: a proof of concept. Int J Mol Sci. (2022) 23(20):12110. 10.3390/ijms232012110 - DOI - PMC - PubMed
    1. Germain DP. Fabry disease. Orphanet J Rare Dis. (2010) 5:30. 10.1186/1750-1172-5-30 - DOI - PMC - PubMed
    1. Germain DP, Altarescu G, Barriales-Villa R, Mignani R, Pawlaczyk K, Pieruzzi F, et al. An expert consensus on practical clinical recommendations and guidance for patients with classic Fabry disease. Mol Genet Metab. (2022) 137:49–61. 10.1016/j.ymgme.2022.07.010 - DOI - PubMed

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