Abstract
Heterozygous familial hypercholesterolaemia (FH) is among the most common genetic metabolic lipid disorders characterised by elevated low-density lipoprotein cholesterol (LDL-C) levels from birth and a significantly higher risk of developing premature atherosclerotic cardiovascular disease. The majority of the current pediatric guidelines for clinical management of children and adolescents with FH does not consider the impact of genetic variations as well as characteristics of vascular phenotype as assessed by recently developed non-invasive imaging techniques. We propose a combined integrated approach of cardiovascular (CV) risk assessment and clinical management of children with FH incorporating current risk assessment profile (LDL-C levels, traditional CV risk factors and familial history) with genetic and non-invasive vascular phenotyping. Based on the existing data on vascular phenotype status, this panel recommends that all children with FH and cIMT ≥0.5 mm should receive lipid lowering therapy irrespective of the presence of CV risk factors, family history and/or LDL-C levels Those children with FH and cIMT ≥0.4 mm should be carefully monitored to initiate lipid lowering management in the most suitable time. Likewise, all genetically confirmed children with FH and LDL-C levels ≥4.1 mmol/L (160 mg/dL), should be treated with lifestyle changes and LLT irrespective of the cIMT, presence of additional RF or family history of CHD.
Highlights
Familial hypercholesterolaemia (FH) is a genetic and complex multifactorial lipid disorder, which increases the risk of premature atherosclerosis and coronary artery disease [1,2,3,4]
Expert opinion: It is reasonable to extrapolate findings from the adult population and to identify children with genetically confirmed FH with low-density lipoprotein cholesterol (LDL-C) > 5 mmol/L who are at greater cumulative lifetime exposure to high LDL-C to decide how aggressive and how early should we start with lipid-lowering treatment (LLT) (Level C evidence)
Expert opinion: It would be important to make a conceptual shift of CV risk assessment in children with FH from that based upon LDL-C levels alone, to that of combined CV risk assessment incorporating other traditional or non-traditional coronary heart disease (CHD) risk factors and their possible additive adverse effects on vascular phenotype (Level C evidence)
Summary
Familial hypercholesterolaemia (FH) is a genetic and complex multifactorial lipid disorder, which increases the risk of premature atherosclerosis and coronary artery disease [1,2,3,4]. To avoid overlooking children with FH and negative family history as well as the decrease in LDL-C during puberty, the National Heart, Lung, and Blood Institute and the National Lipid Association Expert Panel recently proposed universal screening as a preferred method of pediatric screening for hypercholesterolaemia between the ages of 9 to 11 years of age [9,10]. Another important paper endorsed by the European Expert Panel suggested the universal screening for children aged 1–9-years old [11]. If a genetic defect has already been identified in the affected parent, an LDL-C level >135 mg/dL (3.5 mmol/L) can be used as a cut-off value for the diagnosis of FH [12]
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