Pediatric implications of heterozygous familial hypercholesterolemia. Screening and dietary treatment

Heterozygous familial hypercholesterolemia (FH) is completely expressed at birth and in childhood by significant elevations of plasma total and low density lipoprotein (LDL) cholesterol levels. High density lipoprotein cholesterol levels can be low in FH. Screening of children for FH using a LDL cholesterol level is efficient in families with known FH, while for general population screening, the LDL cholesterol level is too nonspecific. Newer cellular and molecular biologic approaches of screening for FH promise to be more specific. A diet low in cholesterol (<200 mg/day), total fat (30% of calories), and saturated fat (<10% of calories) but moderately enriched in polyunsaturated fat (up to 10% of calories) will lower the total and LDL cholesterol levels about 10% to 15% in most heterozygous FH children. Many children will eventually require the addition of a drug to achieve satisfactory lowering of the LDL cholesterol level. The early detection and treatment of FH offers the optimal approach to the prevention of premature coronary artery disease.