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Prevalence and expression of familial combined hyperlipidemia in childhood
J A Cortner1, P M Coates, P R Gallagher
1Lipid-Heart Research Center, Children's Hospital of Philadelphia, PA 19104.
Insights
Familial combined hyperlipidemia is a common inherited condition in children, occurring over three times more often than familial hypercholesterolemia. Early identification and lifestyle changes can prevent premature heart disease.
Area of Science:
- Genetics
- Pediatrics
- Cardiology
Background:
- Hyperlipidemia in children with a family history of premature coronary artery disease requires investigation.
- Dominantly inherited hyperlipidemias are significant risk factors for cardiovascular disease.
Purpose of the Study:
- To determine the incidence of dominantly inherited hyperlipoproteinemia in children.
- To assess the childhood expression of familial combined hyperlipidemia.
Main Methods:
- Reviewed 129 families referred for pediatric hyperlipidemia with a family history of premature coronary artery disease.
- Identified specific types of inherited hyperlipoproteinemia and assessed gene penetrance in siblings.
Main Results:
- 97 out of 129 families had dominantly inherited hyperlipoproteinemia.
- Familial combined hyperlipidemia (65 families) was more common than familial hypercholesterolemia (20 families).
- Familial combined hyperlipidemia showed complete gene penetrance in this cohort.
Conclusions:
- Familial combined hyperlipidemia is a frequent cause of childhood hyperlipidemia, exceeding familial hypercholesterolemia incidence.
- Early pediatric identification of hyperlipidemia is crucial for preventing premature coronary artery disease.
- Diet and lifestyle modifications are key interventions for managing childhood hyperlipidemia.
Abstract:
The objectives of this study were (1) to determine the incidence of dominantly inherited hyperlipoproteinemia in children referred to our medical center because of hyperlipidemia associated with a family history of premature coronary artery disease and (2) to assess the degree of expression in childhood of the most common inherited hyperlipoproteinemia, familial combined hyperlipidemia. Among 129 families referred to us by area pediatricians, we identified a dominantly inherited hyperlipoproteinemia in 97 of them. Twenty had familial hypercholesterolemia, 65 familial combined hyperlipidemia, 11 hyperapobetalipoproteinemia, and one familial hypertriglyceridemia. As expected, almost half (9/20) of the siblings of probands with familial hypercholesterolemia were affected. Although we expected incomplete gene penetrance in the siblings of the probands with familial combined hyperlipidemia, we found 43 affected and 40 unaffected among the 83 siblings of the 65 probands. Our findings suggest that hyperlipidemia in children, caused by familial combined hyperlipidemia, occurs more than three times as frequently as familial hypercholesterolemia and that in families identified by a child proband, the penetrance is complete. Pediatricians should identify this primary hyperlipidemia in childhood and attempt to prevent the associated risk of premature coronary artery disease by prescribing appropriate diet and life-style modifications.