Familial Deficiency of Apolipoproteins A-I and C-III and Precocious Coronary-Artery Disease

Robert A. Norum, Jeffrey B. Lakier, Sidney Goldstein, Aubie Angel, Ronald B. Goldberg, Walter D. Block, Donna K. Noffze, Peter J. Dolphin, John Edelglass, David D. Bogorad, Petar Alaupovic

Research output: Contribution to journalArticle

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Abstract

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. (N Engl J Med. 1982; 306:1513–9.), THE inverse relation between coronary-artery disease and the concentration of high-density-lipoprotein (HDL) cholesterol in blood suggests that this lipoprotein is an important factor in the pathogenesis of atherosclerosis.1 2 3 Low levels of HDL cholesterol have been associated with an increased frequency of coronary heart disease, even at an HDL level no less than 50 per cent of normal. Yet in Tangier disease, an inherited disorder of cholesterol metabolism in which HDL cholesterol is about 8 per cent of normal, the frequency of atherosclerosis is not increased.4 We have studied two sisters with a severe deficiency in HDL who had severe and.

Original languageEnglish (US)
Pages (from-to)1513-1519
Number of pages7
JournalNew England Journal of Medicine
Volume306
Issue number25
DOIs
StatePublished - Jun 24 1982
Externally publishedYes

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Apolipoproteins C
Apolipoprotein A-I
HDL Cholesterol
Coronary Artery Disease
HDL Lipoproteins
Siblings
Atherosclerosis
Tangier Disease
Cholesterol
Apolipoprotein C-III
Phosphatidylcholine-Sterol O-Acyltransferase
Xanthomatosis
Skin
Histiocytes
Sodium Dodecyl Sulfate
Tendons
Lipoproteins
Radioimmunoassay
Coronary Disease
Half-Life

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Norum, R. A., Lakier, J. B., Goldstein, S., Angel, A., Goldberg, R. B., Block, W. D., ... Alaupovic, P. (1982). Familial Deficiency of Apolipoproteins A-I and C-III and Precocious Coronary-Artery Disease. New England Journal of Medicine, 306(25), 1513-1519. https://doi.org/10.1056/NEJM198206243062503

Familial Deficiency of Apolipoproteins A-I and C-III and Precocious Coronary-Artery Disease. / Norum, Robert A.; Lakier, Jeffrey B.; Goldstein, Sidney; Angel, Aubie; Goldberg, Ronald B.; Block, Walter D.; Noffze, Donna K.; Dolphin, Peter J.; Edelglass, John; Bogorad, David D.; Alaupovic, Petar.

In: New England Journal of Medicine, Vol. 306, No. 25, 24.06.1982, p. 1513-1519.

Research output: Contribution to journalArticle

Norum, RA, Lakier, JB, Goldstein, S, Angel, A, Goldberg, RB, Block, WD, Noffze, DK, Dolphin, PJ, Edelglass, J, Bogorad, DD & Alaupovic, P 1982, 'Familial Deficiency of Apolipoproteins A-I and C-III and Precocious Coronary-Artery Disease', New England Journal of Medicine, vol. 306, no. 25, pp. 1513-1519. https://doi.org/10.1056/NEJM198206243062503
Norum, Robert A. ; Lakier, Jeffrey B. ; Goldstein, Sidney ; Angel, Aubie ; Goldberg, Ronald B. ; Block, Walter D. ; Noffze, Donna K. ; Dolphin, Peter J. ; Edelglass, John ; Bogorad, David D. ; Alaupovic, Petar. / Familial Deficiency of Apolipoproteins A-I and C-III and Precocious Coronary-Artery Disease. In: New England Journal of Medicine. 1982 ; Vol. 306, No. 25. pp. 1513-1519.
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abstract = "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. (N Engl J Med. 1982; 306:1513–9.), THE inverse relation between coronary-artery disease and the concentration of high-density-lipoprotein (HDL) cholesterol in blood suggests that this lipoprotein is an important factor in the pathogenesis of atherosclerosis.1 2 3 Low levels of HDL cholesterol have been associated with an increased frequency of coronary heart disease, even at an HDL level no less than 50 per cent of normal. Yet in Tangier disease, an inherited disorder of cholesterol metabolism in which HDL cholesterol is about 8 per cent of normal, the frequency of atherosclerosis is not increased.4 We have studied two sisters with a severe deficiency in HDL who had severe and.",
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AU - Norum, Robert A.

AU - Lakier, Jeffrey B.

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AU - Angel, Aubie

AU - Goldberg, Ronald B.

AU - Block, Walter D.

AU - Noffze, Donna K.

AU - Dolphin, Peter J.

AU - Edelglass, John

AU - Bogorad, David D.

AU - Alaupovic, Petar

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N2 - 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. (N Engl J Med. 1982; 306:1513–9.), THE inverse relation between coronary-artery disease and the concentration of high-density-lipoprotein (HDL) cholesterol in blood suggests that this lipoprotein is an important factor in the pathogenesis of atherosclerosis.1 2 3 Low levels of HDL cholesterol have been associated with an increased frequency of coronary heart disease, even at an HDL level no less than 50 per cent of normal. Yet in Tangier disease, an inherited disorder of cholesterol metabolism in which HDL cholesterol is about 8 per cent of normal, the frequency of atherosclerosis is not increased.4 We have studied two sisters with a severe deficiency in HDL who had severe and.

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