Context: Fabry disease (FD) is a deficiency of lysosomal enzyme α-galactosidase A leading to accumulation of glycosphyngolipids in vascular and renal tissues. Affected patients exhibit neuropathic pain and premature mortality because of renal failure and cardiovascular diseases. We have already described an accelerated hypertrophy of the arterial wall. Although enzyme replacement therapy (ERT) decreases glycosphyngolipids accumulation in tissues, there is no evidence of ERT efficacy on vascular hypertrophy.

Objective: To evaluate efficacy of intravenous ERT at usual dosage on large artery properties.

Design study: Longitudinal follow-up before (23 ± 11 Mo) and after ERT (47 ± 17 Mo). Four to 8 serial measurements of (a) carotid intima-media thickness (IMT) and diameter, obtained with high definition echotracking device, and (b) aortic stiffness, obtained through carotid to femoral pulse wave velocity (PWV).

Patients: 15 patients (12 males and 3 females with clinical manifestations), aged 33 ± 10 years.

Results: Carotid-femoral PWV significantly decreased during follow-up (P<0.001). The slope of PWV changes with time did not differ from zero (−0.16 ± 0.90 m/s/yr, NS) before ERT, but was significantly reduced after ERT (−0.50 ± 0.47 m/s/yr, P<0.01). IMT increased before ERT and kept increasing after ERT (ANOVA). However, individual slopes did not differ from zero (before ERT +10 ± 66 μm/yr, after ERT: 4 ± 21 μm/yr (P=0.745)). Diameter, wall-to-lumen ratio and carotid distensibility did not change after ERT (P=0.53, 0.20, 0.44, respectively).

Conclusion: In addition to it’s effectiveness on pain and glycosphingolipids storage in tissues, ERT with recombinant algasidase-beta proved to decrease aortic stiffness while carotid wall hypertrophy was still progressing.