Background: Anderson-Fabry disease is a multisystem X-linked disorder of lipid metabolism frequently associated with cardiac symptoms, including left ventricular (LV) hypertrophy gradually impairing cardiac function. Evidence showing that enzyme replacement therapy (ERT) can be effective in reducing LV hypertrophy and improving myocardial function in the long term is limited.
Objective: This study aimed to assess the long term effects of ERT with recombinant a-galactosidase A (agalsidase beta, Fabrazyme®) on LV function and myocardial signal intensity in 11 patients with Anderson-Fabry disease.
Patients: Eleven patients (8 males, 3 females) with varying stages of genetically confirmed Anderson-Fabry disease were examined by means of physical examination and magnetic resonance imaging before ERT with agalsidase beta at 1 mg/kg every other week (study 1) and after a mean treatment duration of 45 months (study 2).
Results: At 45 months of treatment, LV mass and LV wall thickness had significantly reduced: 188±60 g vs 153±47 g, and 16±4 mm vs 14±4 mm, respectively. Furthermore, a significant reduction in myocardial T2 relaxation times was noted in all myocardial regions, i.e., interventricular septum 80±5 msec vs 66±8 msec, apex 79±10 msec vs 64±10 msec, and lateral wall 80±8 msec vs 65±16 msec. Changes in LV ejection fraction were not significant. Amelioration of clinical symptoms was observed in all patients.
Conclusions: Long term therapy with agalsidase beta at 1 mg/kg every 2 weeks was effective in significantly reducing LV hypertrophy, improving overall cardiac performance and ameliorating clinical symptoms in patients with Anderson-Fabry disease.
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