Vascular dysfunction in glycogen storage disease type I.

OBJECTIVE: To determine cardiovascular disease risk in a larger cohort of patients with glycogen storage disease (GSD) I through the use of noninvasive measures of arterial function and anatomy.

STUDY DESIGN: Carotid intima media thickness (IMT), radial artery tonometry, and brachial artery reactivity were performed in 28 patients with GSD I (13F/15M, mean age 23 years) and 23 control subjects (19F/4M, mean age 23 years).

RESULTS: The primary outcome measure, mean left distal IMT was greater in the GSD cohort (0.500+/-0.055 mm) than in the control group (0.457+/-0.039 mm) (P= .002, adjusted for age, sex, and body mass index). Mean augmentation index measured by radial artery tonometry was higher in the GSD cohort (16.4%+/-14.0%) than in the control group (2.4%+/-8.7%) (P< .001). No significant difference was observed between mean brachial artery reactivity in the GSD cohort (6.3%+/-4.9% change) versus control subjects (6.6%+/-5.1% change) (P= .46).

CONCLUSIONS: GSD I is associated with arterial dysfunction evident by increased IMT and augmentation index. Patients with GSD I may be at increased risk for cardiovascular disease.