Results of total cholesterol screening for early diagnosis of dyslipidemia in Saint Petersburg children

Background. Сardiovascular diseases (CVDs) remain the leading cause of disability and mortality worldwide. Dyslipidemia is a major risk factor for CVD, with familial hypercholesterolemia (FH) being the most common hereditary form. Despite its high prevalence, timely identification of FH remains remarkably low. Some pilot studies have shown that lysosomal acid lipase deficiency (LAL-D), a rare disorder requiring differential diagnosis from type IIa dyslipidemia, may be underrecognized. Objective. To present the results of lipid profile analysis in 1,000 primary school-aged children (9–11 years) who underwent universal screening in Saint Petersburg. Design and methods. A total of 1,000 children aged 9 to 11 years 11 months and 30 days were examined. The study design included assessment of anthropometric parameters and total cholesterol (TC) levels in capillary blood. In cases of hypercholesterolemia, family history, comprehensive biochemical blood analysis, and carotid artery duplex scan were performed, along with exclusion of secondary causes of dyslipidemia. When indicated, lysosomal acid lipase (LAL) activity and genetic testing were conducted. Results. The cohort comprised 44.5 % girls and 55.5 % boys. The mean capillary blood TC level was 4.04 ± 0.94 mmol/L (range: 2.43–10.9 mmol/L). Among the 1,000 children, 87 (8.7 %) had TC >5.2 mmol/L: 50 boys (57.5 %) and 37 girls (42.5 %), with a median TC of 5.61 ± 1.02 mmol/L (range: 5.2–10.9 mmol/L). According to Simon Broome criteria, 8 children (0.8 %) with TC 7.95 ± 1.35 mmol/L and LDL-C 6.11 ± 0.71 mmol/L were diagnosed with FH; pathogenic or likely pathogenic mutations in the LDLR gene were confirmed in 4 children. LAL-D was excluded in all 8 children (100 %). Conclusion. These findings underscore the necessity of universal screening and lipid profile assessment in the pediatric population.