Description

This retrospective study found that half of children with achondroplasia or hypochondroplasia have at least one cardiometabolic abnormality, with the most common being elevated systolic blood pressure.

For some patients with achondroplasia, excess body weight is a major concern due to impaired linear growth, and data also suggest premature onset of cardiovascular or cerebrovascular events. Hypochondroplasia is an allelic disease of achondroplasia, but it is unclear whether these patients are susceptible to obesity. This cross-sectional study at a clinic in Japan investigated anthropometric measurements, body compositions, and cardiometabolic risk factors in 42 children with these conditions. Over the course of the study, none of the children developed metabolic syndrome or type 2 diabetes; however, although fasting plasma glucose, insulin, and measures of insulin resistance were within normal range, 17% of the children showed abnormalities in at least one of these measures. Although there was no significant association between anthropometric measurements or body fat mass and any cardiometabolic risk factors, standard deviation scores for body mass index and hip/height ratio were found to strongly correlate with percent body fat as assessed by dual energy X-ray absorptiometry.

These results suggest individual cardiometabolic risk factors should be evaluated in addition to changes in weight and hip/height ratios. This will help avoid cardiometabolic events in the healthcare management of children with achondroplasia or hypochondroplasia.