日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

Background: Atherosclerosis may gradually progress, even during infancy, in patients with familial hypercholesterolemia (FH). We evaluated FH prevalence in schoolchildren using the results of a screening program for preventing lifestyle-related disease.

Methods: In total, 14,609 (7,461 boys and 7,148 girls) 4th grade schoolchildren were examined during the screening program in Takaoka city from 2006 to 2015. The distribution of the serum non-HDL-cholesterol (non-HDL-C) levels and the prevalence of extremely high non-HDL-C values were used to determine childhood FH prevalence.

Results: There was only a weak correlation between the percentage of overweight (POW) and serum non-HDL-C levels (r＝0.30). Since extremely high non-HDL-C levels (＞200 mg/dL) did not correlate with POW, many of these children were suspected of having FH. Non-HDL-C level 200 mg/dL was almost equivalent to 4 standard deviations above the mean, and is the current recommended treatment threshold for children with FH according to Japanese guidelines. Although the prevalence of high non-HDL-C subjects (≥130 mg/dL) decreased over the course of the 10-year study, the prevalence of extremely high levels (≥200 mg/dL) did not changed. The overall prevalence of children with extremely high non-HDL-C levels was 0.38％, which was considered close to the prevalence of treatment recommended FH in children.

Conclusion: Non-HDL-C levels may be useful for identifying children with FH who would benefit from treatment. In Japan, FH prevalence in children is similar to that estimated in adults.