Cardiovascular risk assessment of dyslipidemic children: Analysis of biomarkers to identify monogenic dyslipidemia

Ana Margarida Medeiros, Ana Catarina Alves, Pedro Aguiar, Mafalda Bourbon

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12 Citations (Scopus)


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. . Medeiros, A. M., A. C. Alves, P. Aguiar, and M. Bourbon on behalf of the Pediatric Investigators of the Portuguese Familial Hypercholesterolemia Study. Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia. J. Lipid Res. 2014. 55: 947.955.

Original languageEnglish
Pages (from-to)947-955
Number of pages9
JournalJournal Of Lipid Research
Issue number5
Publication statusPublished - 2014


  • Cardiovascular risk factor
  • Clinical criteria
  • Familial hypercholesterolemia

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