Familial deficiency of apolipoproteins A-I and C-III and precocious coronary-artery disease.
We studied two sisters 29 and 31 years old who had skin and tendon xanthomas, corneal clouding, and severe coronary atherosclerosis. Histologic examination showed collections of lipid-laden histiocytes in the skin. The patients' plasma cholesterol concentrations were 177 and 135 mg per deciliter (4.58 and 3.49 mmol per liter). Levels of high-density-lipoprotein cholesterol were 4 and 7 mg per deciliter (0.1 and 0.2 mmol per liter). Only traces of apolipoprotein A-I were detected in whole plasma. The plasma density fraction from 1.06 to 1.21 g per milliliter contained no high-density lipoprotein on high-pressure liquid chromatography, no apolipoprotein A-I on sodium dodecyl sulfate electrophoresis, and only traces of apolipoprotein A-I on radioimmunoassay. Apolipoprotein C-III was also not detectable. The activity of lecithin-cholesterol acyltransferase was 40 per cent of normal. The half-life of infused normal high-density lipoprotein was three days (normal, 5.8 days). The parents and children of these two patients had low levels of high-density-lipoprotein cholesterol and apolipoprotein A-I. These cases support the hypothesis that low concentrations of high-density lipoprotein promote atherosclerosis.
D000328:Adult; D000367:Age Factors; D001053:Apolipoproteins / Q000097:blood / Q000172:deficiency*; D001056:Apolipoproteins C; D002784:Cholesterol / Q000097:blood; D008076:Cholesterol, HDL; D002851:Chromatography, High Pressure Liquid; D003327:Coronary Disease / Q000209:etiology*; D004586:Electrophoresis; D005260:Female; D006801:Humans; D007009:Hypolipoproteinemias / Q000097:blood / Q000235:genetics* / Q000473:pathology; D008075:Lipoproteins, HDL / Q000097:blood*; D009135:Muscular Diseases / Q000235:genetics; D011863:Radioimmunoassay; D012871:Skin Diseases / Q000235:genetics; D013710:Tendons; D014973:Xanthomatosis / Q000235:genetics
D001053:Apolipoproteins; D001056:Apolipoproteins C; D008076:Cholesterol, HDL; D008075:Lipoproteins, HDL; D002784:Cholesterol