SERUM LIPID AND APOLIPOPROTEIN A AND B LEVELS IN FAMILIAL HYPERCHOLESTEROLEMIA

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Abstract
Serum lipid and apolipoprotein A (apo A) and B (apo B) levels were studied in a family with familial hypercholesterolemia (FH), which comprised two heterozygous parents, five heterozygous children, one homozygote and one normal child. Lipid levels were compared with those of age‐ and sex‐matched normal controls. All subjects with FH had total serum cholesterol and low density lipoprotein‐cholesterol (LDL‐C) levels greater than the 90th percentile value for the reference range. High density lipoprotein‐cholesterol (HDL‐C) levels were less than the corresponding 13th percentile in heterozygous subjects. The homozygous child had grossly elevated levels of LDL‐C and apo B, and very low levels of HDL‐C and apo A. The most powerful discriminating variable between normal, heterozygous and homozygous family members was the LDL‐C/HDL‐C ratio.