Endothelial dysfunction, but not structural atherosclerosis, is evident early in children with heterozygous familial...

Area of Science:

• Cardiovascular Research
• Pediatric Endocrinology
• Vascular Biology

Background:

• Children with heterozygous familial hypercholesterolemia (heFH) are at risk for premature atherosclerosis.
• Vascular endothelial dysfunction is a potential predictor of cardiovascular risk in pediatric heFH patients.

Purpose of the Study:

• To assess early functional and structural vascular changes in children with heFH.
• Investigate endothelial function and arterial structure in pediatric heFH.

Main Methods:

• Cross-sectional study comparing 30 heFH children (mean age 12 years) with 30 matched controls.
• Noninvasive measurements included brachial artery flow-mediated dilation (FMD), carotid intima-media thickness (cIMT), pulse wave velocity, and vessel compliance.
• Analysis of lipid profiles, including total cholesterol, LDL cholesterol, apolipoprotein B, and lipoprotein (a).

Main Results:

• HeFH children had significantly higher lipids (cholesterol, apolipoprotein B, lipoprotein (a)) and lower FMD compared to controls (p < 0.05).
• Decreased FMD was observed in heFH children older than 10 years, but overall FMD impairment was consistent across all age subgroups.
• FMD was inversely correlated with cIMT in heFH patients (r = -0.378, p = 0.036), but not in controls.
• No significant differences were found in other vascular function indices.

Conclusions:

• Endothelial dysfunction, evidenced by reduced FMD, occurs early in children with heFH.
• This dysfunction precedes structural atherosclerotic changes and indicates an elevated risk for premature cardiovascular disease.
• Early initiation of lipid-lowering therapy is likely warranted for children with heFH.