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[Moderate hypercholesterolemia in children. An index of familial pathology?]
Insights
Moderately high cholesterol in children may signal familial lipid disorders. Early detection and family screening are crucial for identifying risks of atherosclerotic cardiovascular disease.
Area of Science:
- Pediatrics
- Cardiology
- Genetics
Context:
- A study focused on children in Madrid with cholesterol levels around 200 mg/dl.
- The 95th percentile for cholesterol in this population was 204 mg/dl.
- Investigated familial lipid disorders in relation to childhood cholesterol levels.
Purpose:
- To determine if moderately elevated childhood cholesterol is linked to familial lipid disorders.
- To assess the prevalence of hypercholesterolemia and high triglycerides in relatives of affected children.
- To evaluate the association between familial lipid abnormalities and atherosclerotic cardiovascular disease (ACVD) risk.
Summary:
- Out of 44 children with 200 mg/dl cholesterol, 22 with consistently high levels were studied.
- 81 individuals from 17 families (including probands and first-degree relatives) were evaluated.
- Hypercholesterolemia was found in 13.5% (13/59) of non-probands, and high triglycerides in 10.2% (6/59).
- 71% (12/17) of families exhibited multiple members with lipid disorders, often associated with higher ACVD risk.
- Five families presented with combined hyperlipidemia, including familial heterozygous hypercholesterolemia and mixed hyperlipidemia phenotypes.
Impact:
- Childhood cholesterol levels of 200 mg/dl may indicate underlying familial lipid disorders.
- Suggests a need for comprehensive lipid evaluation in children and their families when elevated cholesterol is detected.
- Highlights the importance of early identification of lipid abnormalities to mitigate risks of atherosclerotic cardiovascular disease (ACVD).
Abstract:
Out of 44 children (with 200 mg/dl cholesterol) 22, with constantly high levels of cholesterol were studied. All belong to a children population from Madrid which 95 percentile for cholesterol was 204 mg/dl. Fifty nine subjects, first degree relatives of these 22 children (17 families) plus probands were studied to determine if moderately elevated cholesterol levels during infancy are related to any form of familial lipidic disorder. Serum lipidic levels, anthropometric measurements, dietary habits a history of atherosclerotic cardiovascular disease (ACVD), were evaluated in all these 81 individuals. Hypercholesterolemia was encountered in 13 of the 59 non probands and high triglyceride levels in 6 people. More than one member of the family was to have some form of lipidic disorder in 12 of 17 families (71%) and in 10 the metabolic abnormality was of a type associated with a higher risk to suffer ACVD. Five families had a combined hyperlipidemia of the multiple lipoproteinemic (4 familiar heterozygotic hypercholesterolemia and one hyperlipidemia with a double phenotype II B and V). All family members were apparently healthy and had no knowledge of their underlying lipidic abnormality. In this group of families antecedents of morbi-mortality because of atherosclerosis were more frequent that in group control families. Authors conclude that a moderately elevated serum cholesterol level during infancy may be a marker for various familiar lipidic disorders. Detection in infantile population of serum cholesterol levels 200 mg/dl should prompt us to perform a more complete lipidic evaluation both in children as well as in their families.