Background: The increased risk of cardiovascular disease in familial hypercholesterolemia (FH) is caused by increased cholesterol burden from birth. Even small elevation in cholesterol level accumulates over time and aggravates atherosclerosis. Objectives: The aim of the present study was to describe the lipid profile across sex and age in a large cohort of untreated children and adolescents with FH, as this have not clearly been described. Methods: FH children (438 girls, 452 boys) not receiving lipid-lowering therapy, aged 0 to 19 years were included and divided into 4 age groups (<5, 5–9, 10–14, and 15–19 years). Information was retrieved from the medical records. Total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and non-HDL cholesterol (non–HDL-C) were studied in relation to sex and age by multiple linear regression analysis. Results: Girls with FH as compared to boys had significantly higher TC, LDL-C, and non–HDL-C (P <.001 for all) levels with mean (95% confidence interval) differences of 0.48 mmol/L (0.28, 0.68) (18.6 g/dL), 0.39 mmol/L (0.19, 0.59) (15.08 mg/dL), and 0.42 mmol/L (0.22, 0.63) (16.24 mg/dL), respectively. These estimates did not change after adjustment for age. We also observed sex differences for HDL-C; girls had higher HDL-C in the youngest (<5 years, P =.05) and oldest age groups (15–19 years, P <.001). Conclusions: FH girls have higher levels of TC, LDL-C, and non–HDL-C levels than boys from birth up to 19 years of age. This may contribute significantly to the total lifelong cholesterol burden in FH women.

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Journal of Clinical Lipidology
Department of Internal Medicine

Holven, K.B, Narverud, I, Roeters van Lennep, J.E, Versmissen, J, Øyri, L.K.L. (Linn K.L.), Galema-Boers, J.M.H, … Bogsrud, M.P. (Martin P.). (2018). Sex differences in cholesterol levels from birth to 19 years of age may lead to increased cholesterol burden in females with FH. Journal of Clinical Lipidology. doi:10.1016/j.jacl.2018.02.021