Primary hyperlipoproteinemia in childhood and adolescence: identification and treatment of persons at risk for premature atherosclerosis.

Determination of serum cholesterol values in three populations of children and adolescents, totalling 4013 subjects aged 1 month to 20 years, revealed 16 cases of primary hyperbetalipoproteinemia (overall frequency, 1:251) and led to the detection of the disorder in 12 asymptomatic siblings. The upper limit of normal for serum cholesterol concentration was approximately 200 mg/dl at all ages studied. Dietary treatment was instituted in patients whose serum cholesterol value exceeded this limit and in whom a primary lipid defect was confirmed; the serum cholesterol value decreased in all patients who adhered to the diet. However, since the potential hazards and long-term results of dietary treatment, with or without drug therapy, in growing children are not known, such treatment should be reserved for affected children with a family history of premature atherosclerosis, and follow-up is essential.