Journal of Rare Cardiovascular Diseases

Treatment of Fabry disease has improved since the introduction of enzyme replacement therapy (ERT). Two preparations of the recombinant
enzyme α‑galactosidase A are available: agalsidase alfa and agalsidase beta. We aim to report on a disease improvement after switching therapy from agalsidase alfa to agalsidase beta in a patient with Fabry cardiomyopathy. We present a case of a 60‑year‑old male with chronic renal failure and hypothyroidism, diagnosed with Fabry disease in 2010. We investigated clinical changes in this patient during the 12‑months follow‑up. At the time of diagnosis, transthoracic echocardiogram (TTE) and cardiac magnetic resonance (CMR) showed widespread transmural inferolateral late enhancement (LE), poor ejection fraction and severe left ventricular hypertrophy. Despite of initiation of ERT with agalsidase alfa, clinical status of the patient did not improve. A shift to agalsidase beta was made, what resulted in marked betterment. Effectiveness of ERT on Fabry cardiomyopathy primarily depends on the stage of disease at baseline, since ERT may provide limited benefits in patients with evidence of fibrosis in CMR. Switch from agalsidase alfa to agalsidase beta may be needed in some patients, who do not improve on the first‑line therapy. JRCD 2018; 3 (6): 210–213

rare disease; echocardiography; cardiac magnetic resonance imaging; Fabry disease; enzyme replacement therapy

Elliott PM, Anastasakis A, Borger MA, et al. 2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC). Eur Heart J. 2014; 35: 2733–79. doi: 10.1093/eurheartj/ehu284.

Pieroni M, Chimenti C, De Cobelli F, et al. Fabry’s disease cardiomyopathy: echocardiographic detection of endomyocardial glycosphingolipid compartmentalization. J Am Coll Cardiol 2006; 47: 1663–1671. doi: 10.1016/j.jacc.2005.11.070

Linhart A, Kampmann C, Zamorano JL, et al. Cardiac manifestations of Anderson-Fabry disease: results from the international Fabry outcome survey. Eur Heart J 2007; 28: 1228–1235. doi: 10.1093/eurheartj/ehm153

Strotmann J, Breunig F, Wanner C, et al. Progression of Fabry cardiomyopathy. Clin Ther 2007; 29 Suppl A: S13-4.

Zamorano J, Serra V, Perez de Isla L, et al. Usefulness of tissue Doppler on early detection of cardiac disease in Fabry patients and potential role ofenzyme replacement therapy (ERT) for avoiding progression of disease. Eur J Echocardiogr 2011; 12: 671–677. doi: 10.1093/ejechocard/jer109

Niemann M, Breunig F, Beer M, et al. The right ventricle in Fabry disease: natural history and impact of enzyme replacement therapy. Heart. 2010; 96: 1915–9. doi: 10.1136/hrt.2010.204 586.

Kampmann C, Baehner FA, Whybra C, et al. The right ventricle in Fabry disease. Acta Paediatr Suppl 2005; 94: 15–8; discussion 9–0.

Mehta A, Ricci R, Widmer U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest 2004; 34: 236–242. doi: 10.1111/j.1365–2362.2004.01 309.x.

Gange CA, Mark S, Maron L and MS. Utility of Cardiovascular Magnetic Resonance in the Diagnosis of Anderson-Fabry Disease; Circulation. 2009; 120: e96-7. doi: 10.1161/CIRCULATIONAHA.109.849 828.

Weidemann F, Linhart A, L. Monserrat L, et al. Cardiac challenges in patients with Fabry disease. Int J Cardiol. 2010; 141: 3–10. doi: 10.1016/j.ijcard.2009.08.002

Serra W, Fagnani S, Ardissino D, Gherli T. Late-Onset Cardiac Variant of Fabry Disease Responsive to Short-Term Treatment with Agalsidase Alpha. J Clinic Experiment Cardiol 2010; 1: 109. doi: 10.4172/2155–9880.1 000 109.

Goker-Alpan O, Gambello MJ. Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease. JIMD Rep 2016; 25: 95–106. doi: 10.1007/8904_2015_483.

Vedder A, Linthorst GE, Houge G, et al. Treatment of Fabry Disease: Outcome of a comparative trial with Alasidasi Alfa or Beta at a dose of a 0.2mg/kg PLoSE ONE 2007; 2(7): e598. doi: 10.1371/journal.pone.0 000 598.

Lee K, Jin X, Zhang K, et al. A biochemical and pharmacological comparison of enzyme replacement therapies for the glycolipid storage disorder Fabry disease. Glycobiology 2003; 13: 305–313. doi: 10.1093/glycob/cwg034.