Hyperlipidemia in glycogen storage disease type III: effect of age and metabolic control

Abstract

While the presence of hyperlipidaemia in glycogen storage disease (GSD) type Ia and Ib is generally accepted, few investigators have adequately assessed lipid profiles of GSD III in children, in whom the presence of hyperlipidaemia may be most prominent. We analysed the lipid profiles in 44 GSD III patients from 6 months to 30 years of age. Hypertriglyceridaemia and hypercholesterolaemia were common in children younger than 3 years of age. Hypertriglyceridaemia correlated negatively with age, and may reflect increased severity of hypoglycaemia in this younger population. The presence of hyperlipidaemia during childhood in these patients identifies another GSD population that could be at risk for early cardiovascular disease (CVD). Consequently, the outcome of clinical trials investigating the vascular effect of hyperlipidaemia in GSD applies to types other than GSD I.

Fig. 1

Triglyceride box-and-whisker plot. Boxes represent the 25th to 75th percentiles, and the median is represented in each box. The range of the observations is depicted by the whiskers. The dotted line represents the cut-off for hypertriglyceridemia defined as >1.69 mmol/L (150 mg/dl). One observation – the mean of multiple values – per patient was plotted within each age bracket. N=the number of observations within each age bracket

Fig. 2

Total cholesterol box-and-whisker plot. Boxes represent the 25th to 75th percentiles, and the median is represented in each box. The range of the observations is depicted by the whiskers. The dotted line represents the cut-off for hypercholesterolemia defined as >5.17 mmol/L (200 mg/dl). One observation – the mean of multiple values - per patient was plotted within each age bracket. N=the number of observations within each age bracket