title: Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia.
abstract: The distinction between a monogenic dyslipidemia and a polygenic/environmental dyslipidemia is important for the cardiovascular risk assessment, counseling, 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 analyzed in a cohort of 237 unrelated children with clinical diagnosis of familial hypercholesterolemia (FH). About 40% carried at least two 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 TGs, apoC2, apoC3, and higher frequency of BMI and overweight/obesity, suggesting that environmental factors can be the underlying cause of their hypercholesterolem≥ia. An apoB/apoA1 ratio ≥0.68 was identified as the best biomarker (area under the curve = 0.835) to differentiate FH from other dyslipidemias. The inclusion in clinical criteria of a higher cut-off point for LDL cholesterol or an 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 that specific interventions can be implemented. apoB/apoA1 can improve the identification of FH patients.
authors.affiliation: Unidade de Investigação & Desenvolvimento, Grupo de Investigação Cardiovascular, Departamento de Promoção da Saúde e Prevenção de Doenças Não Transmissíveis, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, Portugal.
authors.forename: Ana Margarida
authors.initials: AM
authors.lastname: Medeiros
authors.forename: Ana Catarina
authors.initials: AC
authors.lastname: Alves
authors.forename: Pedro
authors.initials: P
authors.lastname: Aguiar
authors.forename: Mafalda
authors.initials: M
authors.lastname: Bourbon
mesh_terms: D000293:Adolescent; D015415:Biomarkers / Q000097:blood; D002318:Cardiovascular Diseases / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004777:Environment; D005260:Female; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000150:complications* / Q000453:epidemiology*; D008074:Lipoproteins / Q000097:blood; D008297:Male; D018570:Risk Assessment; D012307:Risk Factors
chemical_list: D015415:Biomarkers; D008074:Lipoproteins
keywords: cardiovascular risk factor; clinical criteria; familial hypercholesterolemia