Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers for the correct assessment of monogenic dyslipidemia

Authors

Abstract

The distinction between a monogenic dyslipidemia and a polygenic/environmental dyslipidemia is important for the cardiovascular risk assessment, counselling and treatment of these patients. The present work aims to perform the cardiovascular risk assessment of dyslipidemic children to identify useful biomarkers for clinical criteria improvement in clinical settings. Main cardiovascular risk factors were analysed in a cohort of 237 unrelated children with clinical diagnosis of Familial Hypercholesterolemia (FH). About 40.0% carried at least 2 cardiovascular risk factors and 37.6% had FH, presenting mutations in LDLR and APOB. FH children showed significant elevated atherogenic markers and lower concentration of antiatherogenic particles. Children without a molecular diagnosis of FH had higher levels of triglycerides, apoC2, apoC3 and higher frequency of body mass index and overweight/obesity, suggesting that environmental factors can be the underlying cause of their hypercholesterolemia. ApoB/apoA1 ratio ≥0.68 was identified as the best biomarker (AUC=0.835) to differentiate FH from other dyslipidemias. The inclusion in clinical criteria of a higher cut-off point for LDL-C or apoB/apoA1 ratio ≥0.68 optimized the criteria sensitivity and specificity. The correct identification, at an early age, of all children at-risk is of great importance so specific interventions can be implemented. ApoB/ApoA1 can improve the identification of FH patients.