Original article
Vascular Dysfunction in Glycogen Storage Disease Type I

https://doi.org/10.1016/j.jpeds.2008.10.048Get rights and content

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.

Section snippets

Methods

Patients with GSD and unrelated healthy control subjects were recruited to participate in a case-control study. No more than 1 patient with GSD was enrolled per family. These investigations were approved by the Institutional Review Board of the University of Florida and the Scientific Advisory Committee of the University of Florida General Clinical Research Center. Signed informed consent (and assent when appropriate) was obtained before commencement of the investigations.

Cases were recruited

Results

BAR and IMT were not performed in 1 patient in whom hypoglycemia developed, and RAT was not performed in 2 control subjects because the technician was absent. The major case-control comparisons appear in Table II. Mean left distal IMT was greater in the GSD I cohort than in the control group. Mean augmentation index measured by RAT was higher in the GSD cohort than in the control group. Mean brachial artery diameter was not significantly different in the GSD cohort than in the control group (

Discussion

Cardiovascular disease is the leading cause of death in the United States, and hyperlipidemia is a known risk factor. Nonetheless, patients with GSD and hyperlipidemia were believed to be exempt from the consequences of this risk. This conclusion, however, was based on limited data. We have determined, using the largest number of patients with GSD studied to date, that GSD is associated with arterial dysfunction. Both carotid IMT and RAT measurement indicate arterial dysfunction in contrast to

Cited by (0)

Support for this project was provided by the Association for Glycogen Storage Disease, Scott Miller Glycogen Storage Disease Research Fund, the National Center for Research Resources General Clinical Research Center grant M01 RR 00082, National Institutes of Health, and NIH Mentored Career Award K23 RR 017560 (DAW). The authors declare no conflicts of interest.

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