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A baby boy was found to have familial hypercholesterolemia at the age of six months. His parents also had hypercholesterolemia. Seven and a half years later, studies of the activity of low-density lipoprotein (LDL) receptors in proliferating lymphocytes indicated that the parents were heterozygous and the child was homozygous for LDL-receptor deficiency. The child's serum cholesterol concentration ranged from 850 to 1000 mg per deciliter (22 to 26 mmol per liter), and he had cutaneous xanthomas on his knees (as shown), elbows, and interdigital folds. Because the hypercholesterolemia was refractory to treatment with lovastatin and cholestyramine, the patient was treated once a week with apheresis to remove the excess LDL cholesterol with an automated dextran sulfate cellulose adsorption system. Just before this treatment was begun, the following lipid concentrations were recorded: total cholesterol, 930 mg per deciliter (24 mmol per liter); total triglycerides, 82 mg per deciliter (1 mmol per liter); LDL cholesterol, 878 mg per deciliter (23 mmol per liter); and high-density lipoprotein (HDL) cholesterol, 38 mg per deciliter (1 mmol per liter). After one year of treatment, the xanthomas disappeared. The mean lipid concentrations during that year were as follows: total cholesterol, 270 mg per deciliter (7 mmol per liter); LDL cholesterol, 200 mg per deciliter (5 mmol per liter); and HDL cholesterol, 58 mg per deciliter (1.5 mmol per liter).

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