Familial Deficiency of Apolipoproteins A-I and C-III and Precocious Coronary-Artery Disease
| Autor: | David D. Bogorad, Walter D. Block, Robert A. Norum, Donna K. Noffze, John Edelglass, Jeffrey B. Lakier, Peter J. Dolphin, Ronald B. Goldberg, Sidney Goldstein, Aubie Angel, Petar Alaupovic |
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| Rok vydání: | 1982 |
| Předmět: |
Adult
Electrophoresis medicine.medical_specialty Apolipoprotein B Radioimmunoassay Coronary Disease Apolipoproteins A Skin Diseases Tendons Coronary artery disease chemistry.chemical_compound Muscular Diseases Internal medicine Xanthomatosis medicine Humans Apolipoproteins C Chromatography High Pressure Liquid Coronary atherosclerosis biology Cholesterol business.industry Cholesterol HDL Age Factors General Medicine Hypolipoproteinemias medicine.disease Apolipoproteins Endocrinology chemistry biology.protein Female lipids (amino acids peptides and proteins) Lipoproteins HDL business Hypolipoproteinemia Lipoprotein |
| Zdroj: | New England Journal of Medicine. 306:1513-1519 |
| ISSN: | 1533-4406 0028-4793 |
| DOI: | 10.1056/nejm198206243062503 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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