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[Family study of primary hypercholesterolemia in school children--the Tsukuba Study]
H Yanagi1, H Hamaguchi, Y Shimakura
1Department of Human Genetics, University of Tsukuba.
Insights
Genetic factors significantly contribute to high cholesterol in school children. Family studies are effective for identifying children at risk for cardiovascular diseases.
Area of Science:
- Pediatrics
- Genetics
- Cardiovascular Disease
Context:
- A screening of 1,469 school children near the University of Tsukuba identified 91 cases of hypercholesterolemia.
- Family studies were conducted on children diagnosed with hypercholesterolemia, with over 50% parental participation.
Purpose:
- To investigate the role of genetic factors in childhood hypercholesterolemia.
- To assess the efficacy of family studies in identifying at-risk individuals for cardiovascular diseases.
Summary:
- Mean cholesterol levels and prevalence of hypercholesterolemia were significantly higher in parents of affected children compared to controls.
- Nine families were identified with autosomal dominant hyperlipidemia, including familial hypercholesterolemia and familial combined hyperlipidemia.
Impact:
- Results underscore the importance of genetic predisposition in childhood hypercholesterolemia.
- Family-based screening of hypercholesterolemic children is an efficient strategy for early detection of cardiovascular disease risk.
Abstract:
Ninety-one children were determined to have hypercholesterolemia from a screening of 1,469 school children in the community near University of Tsukuba, and family studies of these children were performed. More than 50% of the parents participated in the study. The mean cholesterol levels of parents of hypercholesterolemic children were significantly higher than that of controls. Hypercholesterolemia in parents of hypercholesterolemic children was more frequent than that in controls. Nine families with autosomal dominant hyperlipidemia including familial hypercholesterolemia and familial combined hyperlipidemia were detected by further family studies. These results indicate that genetic factors are important as causes of hypercholesterolemia of school children and that family studies of hypercholesterolemic children is an efficient method for screening for persons with increased risk for cardiovascular diseases.