caa a22 4500 467932751 CHVBK 20180406152948.0 cr unu---uuuuu 170328e20060201xx s 000 0 eng 10.1007/s10545-006-0221-3 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0221-3 The effect of 12-month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease [Elektronische Daten] [R. Kalliokoski, I. Kantola, K. Kalliokoski, E. Engblom, J. Sundell, J. Hannukainen, T. Janatuinen, O. Raitakari, J. Knuuti, M. Penttinen, J. Viikari, P. Nuutila] Summary: Fabry disease (McKusick 301500) is an X-linked lysosomal storage disorder secondary to deficient α-galactosidase A activity which leads to the widespread accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids, especially in vascular smooth-muscle and endothelial cells. We have recently shown that the myocardial perfusion reserve of Fabry patients is significantly decreased. Thus, in the present study we investigated, whether it can be improved with enzyme replacement therapy (ERT). Ten patients (7 male, 3 female; mean age 34, range 19-49 years) with confirmed Fabry disease were approved for this uncontrolled, open-label study. Myocardial perfusion was measured at rest and during dipyridamole-induced hyperaemia by positron emission tomography and radiowater. Myocardial perfusion reserve was calculated as the ratio between maximal and resting perfusion. Perfusion measurements were performed before and after 6 and 12 months of ERT by recombinant human α-galactosidase A (Fabrazyme, Genzyme). Plasma Gb3 concentration decreased significantly and the patients reported that they felt better and suffered less pain after the ERT. However, neither resting or dipyridamole-stimulated myocardial perfusion nor myocardial perfusion reserve changed during the ERT. Pretreatment relative wall thickness correlated negatively with posttreatment changes in flow reserve (r = −0.76, p = 0.05) and positively with posttreatment changes in minimal coronary resistance (r = 0.80, p = 0.03). This study shows that 12 months of ERT does not improve myocardial perfusion reserve, although the plasma Gb3 concentration decreases. However, individual variation in the response to therapy was large and the results suggest that the success of the therapy may depend on the degree of cardiac hypertrophy. SSIEM and Springer, 2006 Kalliokoski R. Turku PET Centre, University of Turku, PO Box 52, FIN-20521, Turku, Finland aut Kantola I. Department of Medicine, University of Turku, Turku, Finland aut Kalliokoski K. Turku PET Centre, University of Turku, PO Box 52, FIN-20521, Turku, Finland aut Engblom E. Department of Medicine, University of Turku, Turku, Finland aut Sundell J. Turku PET Centre, University of Turku, PO Box 52, FIN-20521, Turku, Finland aut Hannukainen J. Turku PET Centre, University of Turku, PO Box 52, FIN-20521, Turku, Finland aut Janatuinen T. Turku PET Centre, University of Turku, PO Box 52, FIN-20521, Turku, Finland aut Raitakari O. Department of Clinical Physiology, University of Turku, Turku, Finland aut Knuuti J. Turku PET Centre, University of Turku, PO Box 52, FIN-20521, Turku, Finland aut Penttinen M. Clinical Genetics Unit, Department of Pediatrics, Turku University Central Hospital, Turku, Finland aut Viikari J. Department of Medicine, University of Turku, Turku, Finland aut Nuutila P. Turku PET Centre, University of Turku, PO Box 52, FIN-20521, Turku, Finland aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 112-118 0141-8955 29:1<112 2006 29 10545 https://doi.org/10.1007/s10545-006-0221-3 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0221-3 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Kalliokoski R. Turku PET Centre, University of Turku, PO Box 52, FIN-20521, Turku, Finland aut NATIONALLICENCE 700 1- Kantola I. Department of Medicine, University of Turku, Turku, Finland aut NATIONALLICENCE 700 1- Kalliokoski K. Turku PET Centre, University of Turku, PO Box 52, FIN-20521, Turku, Finland aut NATIONALLICENCE 700 1- Engblom E. Department of Medicine, University of Turku, Turku, Finland aut NATIONALLICENCE 700 1- Sundell J. Turku PET Centre, University of Turku, PO Box 52, FIN-20521, Turku, Finland aut NATIONALLICENCE 700 1- Hannukainen J. Turku PET Centre, University of Turku, PO Box 52, FIN-20521, Turku, Finland aut NATIONALLICENCE 700 1- Janatuinen T. Turku PET Centre, University of Turku, PO Box 52, FIN-20521, Turku, Finland aut NATIONALLICENCE 700 1- Raitakari O. Department of Clinical Physiology, University of Turku, Turku, Finland aut NATIONALLICENCE 700 1- Knuuti J. Turku PET Centre, University of Turku, PO Box 52, FIN-20521, Turku, Finland aut NATIONALLICENCE 700 1- Penttinen M. Clinical Genetics Unit, Department of Pediatrics, Turku University Central Hospital, Turku, Finland aut NATIONALLICENCE 700 1- Viikari J. Department of Medicine, University of Turku, Turku, Finland aut NATIONALLICENCE 700 1- Nuutila P. Turku PET Centre, University of Turku, PO Box 52, FIN-20521, Turku, Finland aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/1(2006-02-01), 112-118 0141-8955 29:1<112 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer