Fabry disease is a deficiency of lysosomal enzyme ⍺-galactosidase A leading to accumulation of glycosphyngolipids in cardiac and vascular tissues. Although enzyme replacement therapy decreases glycosphingolipids storage in tissues, we have described a continuous vascular hypertrophy whereas the aortic stiffness was paradoxically decreasing under long-term enzyme therapy. Preliminary results reported that Fabry’s aorta diameters under treatment were more dilated in comparison to control group. The objective of this study is to determined parallelism between presumed aorta dilatation, aortic stiffness and arterial remodeling in treated Fabry patients.
41 treated patients were enrolled (38±12 yrs) with arterial measurements of a) radial and carotid intima-media thickness, diameter, local pulse pressure and distensibility obtained with echotracking device; b) aortic stiffness obtained through carotid to femoral pulse wave velocity with tonometry and c) aorta diameters (sinus, ascending and descending tubule, arch aortic) assessed by magnetic resonance imaging examinations.
Pulse wave velocity was positively correlated with ascending and descending aorta tubules diameters in univariate analysis (respectively R2=0.13, P< 0.05; R2=0.11, P<0.05) and after adjustment on body surface area, pulse pressures ratio and hypertension (respectively P<0.05 and P=0.01). Aorta diameters (ascending, descending tubule and arch aortic) were positively correlated with carotid diameter (respectively R2=0.44, P<0.0001, R2=0.32, P=0.0001 and R2=0.34, P=0.0001) and after adjustment as previously (respectively P=0.0001, P<0.05 and P<0.001). No correlations were found among all aorta diameters and radial diameter and between aorta sinus and carotid and radial artery properties. Carotid stiffness was positively correlated with ascending, descending tubules and arch aortic diameters (respectively R2=0.38, P<0.0001; R2=0.29, P<0.0005 and R2=0.23 P<0.005) and after adjustments as previously adding pulse wave velocity (P<0.0001, P<0.0005 and P<0.01).
This study underlies interrelation between aortic diameters, aortic stiffness, elastic and muscular arteries geometry and carotid stiffness in patients with Fabry disease under enzyme therapy.
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