Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020473 (hyperlipidemia)
 15,891 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors report 4 cases of hyperlipemia and show the great benefit which results from ileal exclusion when there is an atherogenic risk. The considerable reduction in total lipid, cholesterol, triglycerides, and prebeta-lipoproteins is constant together with clarification of the serum. In one case, angina pectoris regressed considerably, as did arteritis of the lower limbs (unlimited walking became possible, oscillometry in the leg improved from 2 to 7). Surgery is indicated whenever by lack of will power, the diet and medical treatment cannot be followed, when social and economic conditions make proper medical treatment impossible, or when the latter has failed. The existence of arterial lesions, cardiac or cerebral complications makes surgery even more urgent. Gall-stones were observed in gall bladder. The authors raise the problem of oxalate stones. Only type II familial hyperlipemia in homozygotes should be excluded: and end-to-side portacaval anastomosis seems to be preferable.
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PMID:[Surgical treatment of primary hyperlipoproteinemia]. 20 70

Apolipoprotein E from human serum shows a genetic polymorphism determined by two autosomal codominant alleles, Apo En and Apo Ed. Homozygosity for the gene Apo Ed (phenotype Apo E-D) results in primary dysbetalipoproteinemia, but only some individuals with this phenotype develop gross hyperlipidemia (hyperlipoproteinemia type III). Vertical transmission of dysbetalipoproteinemia represents pseudodominance due to the high frequency of the gene Apo Ed. Dysbetalipoproteinemia is already expressed in childhood. To assess the influence of other genes on the expression of hyperlipidemia in phenotype Apo E-D, comparative studies were carried out in kindreds of hypercholesterolemic (group A) and normo- or hypocholesterolemic probands with dysbetalipoproteinemia (group B). This demonstrated the occurrence of familial (non-type III) forms of hyperlipidemia in group A but not in group B kindreds. Distribution of lipoprotein phenotypes in five of the group A kindreds was consistent with the occurrence of familial combined hyperlipidemia. Apo E phenotypes and hyperlipidemia segregated independently. It is concluded that primary dysbetalipoproteinemia is a frequent monogenic variant of lipoprotein metabolism, but not a disease. Coincidence in one individual of genes for this specific dyslipoproteinemia with any of the genes for monogenic or polygenic forms of familial hyperlipidemia results in hyperlipoproteinemia type III. Hence hyperlipoproteinemia type III is caused by at least two non-allelic genes and is a polygenic disorder.
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PMID:Polymorphism of apolipoprotein E. II. Genetics of hyperlipoproteinemia type III. 21 60

The occurrence of main coronary risk factors was assessed in the families of 211 men under age 56 from East Finland. Fifty men were survivors of a recent myocardial infarction, 55 had died of myocardial infarction, 53 suffered from uncomplicated angina, and 53 were healthy reference men. Familial hyperlipidaemia was twice and familial hypertension three times as common in case as in reference families; other risk factors were equally common in both. Familial hypercholesterolaemia was commonest in the families of men with fatal myocardial infarction, and multiple type familial hyperlipidaemia in those of men with angina. Any increase in familial aggregation of coronary heart disease was invariably paralleled by increased aggregation of hyperlipidaemia and hypertension, with the most impressive aggregation of both traits in case families with a maternal history of early coronary death. It is concluded that most of the familial aggregation of coronary heart disease is mediated by familial aggregations of hyperlipidaemia and hypertension.
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PMID:Aggregation of coronary risk factors in families of men with fatal and non-fatal coronary heart disease. 50 67

A genetically determined hyperlipidemic strain of New Zealand White rabbit that has features in common with combined familial hyperlipidemia in humans has been identified. The morphologic findings in a few animals fed a normal chow diet are reported. These consisted of macroscopically visible aortic intimal elevations found in the greatest number in the descending thoracic aorta. The plaques showed the presence of a cell population consisting of modified smooth muscle cells and lipid-laden macrophages. The lesion bases were necrotic and acellular, and some showed the presence of dystrophic calcification. Scanning electron microscopy revealed numerous monocytes attached to the endothelium. Endothelial defects were common, and these were filled with swollen and "ruffled" macrophages. Transmission electron microscopy confirmed the presence of lipid-laden cells penetrating between adjacent endothelial cells. These findings resemble those reported in a number of different animal species after dietary induction of hyperlipidemia. This strain is a useful new model for the study of atherogenesis.
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PMID:Hereditary hyperlipidemia and atherosclerosis in the rabbit due to overproduction of lipoproteins. II. Preliminary report of arterial pathology. 357 21

A case of familial hyperlipidemia incidentally found through a 16 year-old high school girl with type V hyperlipoproteinemia and abdominal bouts consistent with this type of hyperlipemia is reported for the first time in Japan. The laboratory findings of the plasma of her father revealed typical hyperlipoproteinemia of type IIa. Nineteen of her 26 kindred were investigated. Type V was seen only in the proband, type IIa in father, paternal grandmother, two paternal aunts, and two paternal cousins, type IV in three paternal cousins. The serum apolipoprotein (apo A-I, A-II, B, C-II, C-III, and E) concentrations were determined by the single radial immunodiffusion technique. The apolipoprotein concentrations were not different from those of normolipidemic control subjects except for apo B, which was higher in the hyperlipidemic members, and apo C-II, C-III, and E, which were higher in the proband.
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PMID:A kindred of familial combined hyperlipidemia (FCHL) with proband showing type V hyperlipoproteinemia. 377 23

Serum cholesterol, low density lipoproteins (LDL), very low density lipoproteins (VLDL) and chylomicron levels were studied in 25 young patients (age 40 years or less) of non-embolic ischemic stroke of unknown aetiology. Fifteen patients were males and 10 were females. The prevalence of hyperlipidemia was found to be 60%. Frederickson's type IIb hyperlipoproteinemia was the commonest (32%) abnormal pattern observed, followed by type IIa (12%), type IV (12%) and type V (4%). Family studies were carried out in all the 25 index patients (15 hyperlipidemic and 10 normolipidemic). Familial hyperlipidemia (i.e. 2 or more hyperlipidemic members in the same family) was found in 9 of the 15 hyperlipidemic index patients and in none of the normolipidemic index patients. The common pattern was found to be that of familial combined hyperlipidemia. The study indicates that screening the family members of hyperlipidemic young patients of non-embolic ischemic stroke may delineate a group of high risk individuals for possible primary prevention before they develop the disease.
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PMID:Familial hyperlipidemia in stroke in the young. 381 Jul 12

The occurrence of otosclerosis and hyperlipidemia in four generations of a single family is described. The lipid abnormality fulfilled the characteristics of combined familial hyperlipidemia. Whereas a genetic linkage between combined hyperlipidemia and otosclerosis is feasible, our study indicates that both conditions are inherited through autosomal but unlinked genes.
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PMID:Familial combined hyperlipidemia and otosclerosis--the occurrence in a large kindred. 397 13

The correspondents describe a case of acute pancreatitis 2 months after starting oral contraceptives in a 32-year-old obese, virilized woman whose familial hyperlipidemia was discovered during hospitalization. She was hospitalized for violent abdominal pain twice; on the second admission laparotomy permitted a diagnosis of typical hemorrhagic acute pancreatitis. When tested a few weeks later, her blood lipids varied from 14-54 gm per 1, triglycerides from 5-32 gm per 1, cholesterol 3-6 gm per 1, pre-beta-lipoprotein peak fell between 50 and 68%, and chylomicrons were absent. Since hyperlipidemia is not known to be assoicated with pancreatitis, the crisis was probably due to oral contraceptives.
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PMID:[Letter: Acute pancreatitis and hyperlipemia under oral contraceptives]. 484 28

Plasma transport of free fatty acids (FFA) and triglyceride fatty acids (TGFA) was studied in seven subjects with normal lipid metabolism, one case of total lipodystrophy, and one case of familial hyperlipemia (Type V). Studies were carried out after intravenous injection of radioactive FFA, of lipoproteins previously labeled in vitro in the triglyceride moiety, or both. Computer techniques were used to evaluate a series of multicompartmental models, and a general model is proposed that yields optimum fitting of experimental data for both FFA and TGFA. The results show that as much as 20-30% of FFA leaving the plasma compartment in normal subjects is transported to an exchanging extravascular pool and quickly reenters the plasma pool as FFA. The rate of irreversible delivery of FFA from plasma to tissues averaged 358 muEq/min in normals. The lipodystrophy patient, despite the virtual absence of adipose tissue (confirmed at autopsy), had a plasma FFA concentration and a total FFA transport, both more than twice normal. Total TGFA transport ranged from 25 to 81 muEq/min in four normal controls. The rate constant for TGFA turnover in the patient with Type V hyperlipemia was so small that total transport could not be quantified from the data available; the TGFA half-life was over 500 min. In two normal subjects given injections of autologous lipoproteins labeled in vitro with triolein-(14)C and simultaneously given oleic acid-(3)H, it was shown that the time course for the disappearance of the TGFA in the in vitro labeled samples conformed almost exactly to that of the physiologically labeled lipoprotein TGFA synthesized from injected FFA (as evidenced by the simultaneous fitting of both sets of data using the same multicompartmental model and the same rate constants). Radioactivity appeared in the plasma FFA fraction at a significant rate after injection of plasma labeled in vitro with TGFA. It was estimated that as much as 50% of the total TGFA transported underwent rapid and rather direct conversion to FFA in the two normal subjects studied this way. The kinetic data suggest that such conversion of TGFA to FFA was not preceded by any extensive dilution, such as would result from complete mixing with tissue triglyceride stores.
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PMID:Kinetic studies of plasma free fatty acid and triglyceride metabolism in man. 579 65

Hyperlipidemia is common in diabetic patients. While our understanding of lipid and lipoprotein metabolism in diabetes is incomplete, a pathophysiologic approach to this problem is presented. It is based on the recognition that diabetes is metabolically heterogeneous. Thus the roles of insulin deficiency, insulin resistance, obesity, and genetic factors are discussed in relation to their effects on lipoprotein production and catabolism. The most important defect in insulin-deficient subjects appears to be a deficiency of lipoprotein lipase, which is responsible for the removal of the triglyceride-rich lipoproteins. In non-insulin-dependent subjects there is evidence for a removal defect as well as, in some patients, for overproduction of VLDL-triglyceride. Cholesterol levels may be elevated and it is important to distinguish between VLDL, LDL, and HDL as the causes for these increases. HDL-cholesterol levels may be increased in insulin-dependent subjects, whereas they may be decreased in obese non-insulin-dependent patients. Mild elevations of LDL-cholesterol may occur in inadequately controlled type I and II diabetic patients, while elevated VLDL may raise the serum cholesterol in addition to the triglyceride levels. The rationale for therapy is based on the complications of severe hypertriglyceridemia and the risk of occlusive atherosclerosis. Management is directed at improving glycemic control, altering dietary composition, and reducing calories in obese patients. Improved glycemic control is effective in reducing triglyceride and cholesterol levels in insulin-deficient subjects. The response of the non-insulin-dependent diabetic patient to improved control may be complicated by associated obesity or familial hyperlipidemia. The advantages and disadvantages of fat versus carbohydrate restriction in the diet are discussed. Finally, resistant hyperlipidemia may require drug therapy. Diabetic hyperlipidemia should be viewed as resulting from an interaction between the diabetic syndrome, the genetic background of the patient, and the environment.
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PMID:Lipid disorders in diabetes. 675 32


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