Is glycogen storage disease 1a associated with atherosclerosis?

Area of Science:

• Metabolic disorders
• Cardiovascular health
• Pediatric endocrinology

Background:

• Glycogen storage disease type 1a (GSD 1a) results from glucose-6-phosphatase deficiency, impacting liver and kidney function.
• Patients with GSD 1a often experience persistent dyslipidemia and microalbuminuria, known risk factors for atherosclerosis.
• Limited data exists on the long-term cardiovascular outcomes, specifically accelerated atherosclerosis, in adult GSD 1a patients.

Purpose of the Study:

• To investigate the association between Glycogen Storage Disease type 1a and premature atherosclerosis.
• To assess cardiovascular risk factors and markers in adolescent GSD 1a patients compared to healthy controls.

Main Methods:

• A study involving nine adolescent patients with GSD 1a and nine age-matched healthy controls.
• Evaluated lipid profiles, blood pressure, ankle-brachial indices, aortic distensibility, and carotid/femoral intima-media thickness (IMT).

Main Results:

• Patients with GSD 1a exhibited significantly unfavorable lipid profiles compared to controls.
• No significant differences were observed in blood pressure, ankle-brachial indices, or aortic distensibility between groups.
• Intima-media thickness (IMT) was comparable, with even thinner segments noted in the GSD 1a group, and GSD 1a was an independent predictor of thinner IMT.

Conclusions:

• Glycogen storage disease type 1a is not associated with premature atherosclerosis.
• Despite the presence of dyslipidemia and microalbuminuria, GSD 1a does not appear to accelerate atherosclerosis in adolescents.