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)

Common variants at the apolipoprotein B gene locus are associated with hyperlipidaemia, but conflicting data have been presented in the literature concerning the size of the effects and which polymorphisms give the best signal in the different groups of individuals studied. In this review, we will present a critique on the use and interpretation of association studies, with respect to the recent apolipoprotein B DNA polymorphism studies. The impact of these common polymorphisms and rare mutations of apolipoprotein B, primarily the substitution of arginine by glutamine at residue 3500 (R3500Q) that causes familial defective apolipoprotein B100, will also be considered.
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PMID:Hyperlipidaemia associated with genetic variation in the apolipoprotein B gene. 767 Jul 50

DNA screening for apolipoprotein (apo) B mutations causing familial defective apolipoprotein B-100 (FDB) was performed in 87 hyperlipidemic Belgian individuals using heteroduplex analysis. Eighteen FDB heterozygotes from 5 unrelated families were identified. Three of the index cases reported an early family history of premature coronary heart disease (CHD). The frequency of the apo B3500 mutation was 8% in Belgians with type IIa hyperlipidemia, indicating that the prevalence of FDB may be as high as 1 in 250 in the general Belgian population. Plasma lipid levels of the patients identified in the present study are similar to those previously reported for FDB heterozygotes. We compared these data with results obtained in a genotype/phenotype correlation study of heterozygous familial hyper-cholesterolemia (FH) in the Afrikaner population of South Africa. Plasma cholesterol levels in FDB heterozygotes were similar to those reported for FH heterozygotes with defective receptors (Asp206-->Glu, approximately 20% normal receptor activity), but significantly lower than in FH heterozygotes with a mutant protein which virtually lacks receptor activity (Val408-->Met, < 2% normal receptor activity). FDB appears to be a significant genetic cause of hypercholesterolemia in Belgium.
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PMID:Phenotypic expression and frequency of familial defective apolipoprotein B-100 in Belgian hypercholesterolemics. 771 24

High levels of low-density lipoprotein cholesterol (LDL) (hypercholesterolemia) are commonly present in the nephrotic syndrome. Another pattern of dyslipidemia in nephrotic patients is an elevation of both cholesterol and triglyceride levels (combined hyperlipidemia). It has been postulated that the underlying cause of nephrotic dyslipidemia is an hepatic overproduction of apolipoprotein B (apo B)-containing lipoproteins. To examine this hypothesis, the metabolism of LDL-apo B was compared between nephrotic patients with hypercholesterolemia and with combined hyperlipidemia. Thirteen patients (7 with hypercholesterolemia, and 6 with combined hyperlipidemia) underwent measurements of turnover rates of autologous LDL apo B. The results were compared to normolipidemic controls and to patients with primary combined hyperlipidemia previously studied in our laboratory. Nephrotic patients with hypercholesterolemia generally had: (a) lower fractional catabolic rates of LDL apo B than normolipidemic healthy individuals; (b) LDL particles enriched in cholesterol; but (c) no overproduction of LDL apo B. In contrast, patients with combined hyperlipidemia were found to have: (a) high fractional catabolic rates for LDL apo B compared to normolipidemic controls; (b) cholesterol-poor LDL particles; and (c) markedly elevated production rates for LDL. Also, for the group as a whole, there was a positive correlation between plasma triglyceride levels and fractional catabolic rates. These data indicate that the metabolism of LDL is strikingly different between the two forms of nephrotic dyslipidemia. Although there may be common mechanisms contributing to LDL levels in nephrotic patients, there also appears to be a divergence of mechanisms depending on whether hypertriglyceridemia is associated with hypercholesterolemia.
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PMID:Metabolism of low density lipoproteins in nephrotic dyslipidemia: comparison of hypercholesterolemia alone and combined hyperlipidemia. 772 44

The pathophysiology of familial combined hyperlipidemia (FCHL) is unknown, but altered lipid turnover in peripheral tissues as well as hepatic overproduction of apolipoprotein B have been suggested as possible causes. In the present study, we explored whether a change in triglyceride breakdown by lipolysis in fat cells is present in FCHL. Lipolysis activation by catecholamines was examined in isolated subcutaneous adipocytes from 10 patients with FCHL and 22 healthy control subjects. Lipolysis rate was linear for at least 3 h in both groups. However, a marked (approximately 65%) decrease in the lipolytic response to noradrenaline was found in FCHL. This was also true when lipolysis was maximally stimulated at the receptor level with isoprenaline (nonselective beta-adrenergic agonist), at the adenylyl cyclase level with forskolin, or at the level of the protein kinase hormone-sensitive lipase complex with dibutyryl cAMP. The maximum enzymatic activity of hormone-sensitive lipase was decreased by approximately 40% in FCHL. On the other hand, the lipolytic sensitivity of alpha 2-, beta 1-, and beta 2-adrenoceptors was normal in this condition, as was the number and affinity of beta 1- and beta 2-adrenoceptors. Variations in the maximum lipolysis rate correlated significantly with the variations in hormone-sensitive lipase activity in the whole material, and with the serum values for triglycerides, HDL cholesterol and apoB lipoprotein within the control group, but the serum triglyceride values in FCHL were higher than this correlation predicted. In conclusion, the data demonstrate a marked resistance to the lipolytic effect of catecholamines in fat cells from patients with FCHL, in spite of normal adrenoceptor function. The lipolytic defect appears predominantly to be due to a defect in hormone-sensitive lipase, and may be of importance in the pathophysiology of FCHL.
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PMID:Impaired activation of adipocyte lipolysis in familial combined hyperlipidemia. 773 84

The effects of celiprolol 200 mg or 400 mg once daily on blood pressure (BP), serum lipids, plasma fibrinogen and airways function was compared with the effects of metoprolol 100 mg or 200 mg once daily in 171 patients with mild to moderate hypertension and coexistent hyperlipidaemia in a double-blind, multicentre study lasting 1 year. Significant decreases in systolic and diastolic blood pressure and heart rate were observed compared with baseline (DBP: celiprolol -13.3 mm Hg, P < 0.0001; metoprolol -14.3 mm Hg, P < 0.0001; SBP: celiprolol -18.2 mm Hg, P < 0.0001; metoprolol -20.5 mm Hg, P < 0.0001; heart rate celiprolol -4 beats/min, P < 0.003; metoprolol -12 beats/min, P < 0.0001). There was no difference between the effects of the two treatments on BP but celiprolol had less effect on heart rate than metoprolol, (celiprolol-metoprolol 7.3 beats/min, P = 0.0002). When compared with baseline values celiprolol significantly reduced serum low density lipoprotein cholesterol (LDL-C) (-5.8%, P = 0.0401) and produced a slight increase in high density lipoprotein cholesterol (HDL-C) which approached statistical significance (4.1%, P = 0.0659). Metoprolol significantly increased serum triglycerides (32%, P = 0.0001) and the total/HDL-C ratio (7.4%, P = 0.0192). Compared with metoprolol, celiprolol significantly reduced LDL-C (-7.3%, P = 0.0062), total cholesterol (-4.5%, P = 0.0085), apoliproprotein B (-10.1%, P = 0.0001), the apolipoprotein B/A1 ratio (-10.9%, P = 0.0001), the total cholesterol/HDL-C ratio (-10.8%, P = 0.0001) and triglycerides (-24.8%, P = 0.0001), and significantly increased HDL-C (6.0%, P = 0.0043).(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Effect of celiprolol and metoprolol on lipids, fibrinogen and airways function in hyperlipidaemic hypertensives: a randomised double-blind long-term parallel group trial. 775 74

Lipid analysis should be tailored to the likelihood of hyperlipidemia and atherosclerosis. In healthy individuals without a family history of hyperlipidemia, it is sufficient to obtain readings of total cholesterol and high-density lipoprotein (HDL) cholesterol. In patients with a family history of hyperlipidemia, in addition, triglycerides should be measured. In patients with manifest atherosclerotic disease, the lipid profile should always include plasma cholesterol and triglycerides as well as HDL cholesterol; if these do not explain presence or extent of atherosclerosis, apolipoprotein (a) should be measured. Patients with diabetes mellitus should undergo the same diagnostic work-up as those with atherosclerotic disease. An apolipoprotein B reading (together with triglyceride levels) is sometimes helpful in patients with diabetes mellitus, allowing to estimate the size of triglyceride-rich lipoproteins. In patients with pancreatitis, longitudinal assessment of plasma triglycerides and, if available, measurement of HDL triglyceride are useful to unmask underlying hyperlipidemia.
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PMID:[Lipid status in the physician's laboratory]. 777 Aug 20

In normal pregnancy, all women displayed a significant elevation of serum triglyceride (TG), total cholesterol (TC), low density cholesterol (LDL-C) and high density cholesterol (HDL-C) during parturition. To study the quantitative changes in serum levels of lipids and their biological relevances during and after pregnancy, blood samples were collected from 62 normally pregnant women throughout gestation and 6 to 12 weeks postpartum. Compared with 184 nonpregnant control subjects, TG, TC, LDL-C and HDL-C were significantly elevated during the second and third trimesters of pregnancy but dropped sharply after pregnancy. To further understand the effect of pregnancy on other metabolic parameters, we compared the relative levels of apolipoproteins such as apolipoprotein A-I (apoA-I) and apolipoprotein B (apoB), lipoprotein (a) (Lp(a)) and blood sugar during and after pregnancy. We found that apoB concentration progressively increased with advancing gestation, while the levels of apoA-I, Lp(a) and blood sugar were independent of gestation process. The physiological significance of hyperlipidemia during pregnancy is also discussed in this study.
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PMID:Alterations of serum lipid levels and their biological relevances during and after pregnancy. 779 23

Significant risk factors for premature coronary heart disease include: (1) family history, (2) elevated low density lipoprotein (LDL) cholesterol level > or = 160 mg/dl, l, (3) decreased high density lipoprotein (HDL) cholesterol level < 35 mg/dl, l, (4) cigarette smoking, (5) high blood pressure and (6) diabetes mellitus. All of these risk factors are common in patients with premature heart disease. Common familial lipid disorders associated with premature heart disease include familial lipoprotein(a) excess, familial dyslipidemia (elevated triglycerides and decreased HDL cholesterol), familial combined hyperlipidemia (elevations of LDL cholesterol and triglycerides, and often decreased HDL cholesterol), familial hypoapobetalipoproteinemia (elevated apolipoprotein B levels), familial hypoalphalipoproteinemia (low HDL cholesterol levels), and familial hypercholesterolemia (elevated LDL cholesterol levels). All these disorders have been characterized using age and gender specific 90th and 10th percentile values from the normal population. The diagnosis and potential management of these disorders is reviewed.
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PMID:Familial lipoprotein disorders and premature coronary artery disease. 780 28

We determined lipoproteins, apolipoproteins, and endothelin in 98 patients (58 female and 40 male, age 18-72 years) with hyperlipidemia (plasma cholesterol > 2.5 g/l and/or triglycerides > 2.0 g/l) and in 50 healthy subjects (20 female, 30 male, age 19-68 years). In patients with hyperlipidemia endothelin levels were elevated compared to healthy controls. Patients with plasma cholesterol above 2.5 g/l had higher endothelin and lipoprotein(a) concentrations than patients with plasma cholesterol levels less than 2.5 g/l. A positive correlation was found between the concentrations of endothelin and apolipoprotein B (r = 0.2137; P < 0.013). Smoking patients with lipoprotein (a) above 300 mg/l had higher endothelin levels than both nonsmoking patients with lipoprotein (a) above 300 mg/l and smokers with normal lipoprotein(a). In smokers endothelin correlated positively with Lp(a) (r = 0.709; P < 0.01). No correlation was found between endothelin and triglycerides nor between endothelin and age or sex. The results suggest that the vasoconstrictor endothelin contributes to the increased vasal tone in hyperlipidemia. Because endothelin also has mitogenic properties, it may play a relevant role in the development of premature atherosclerosis in patients with hyperlipidemia.
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PMID:Elevated endothelin levels in patients with hyperlipoproteinemia. 781 13

The association between serum uric acid concentration and some cardiovascular risk factors was examined in a working Hong Kong Chinese population (mean age 38 years), consisting of 910 men and 603 women. There was no significant age-related rise in serum uric acid concentration. Positive associations were found between serum uric acid concentration and body mass index, waist hip ratio, systolic and diastolic blood pressure, urea, creatinine, protein, glucose (fasting and 2 hours after 75 g oral glucose load), 2 hour insulin, triglycerides, and apolipoprotein B in men. Similar, but fewer, associations were seen in women, with the addition of a positive association with age. In both sexes, serum uric acid was negatively associated with high-density lipoprotein cholesterol. These findings complement the well-known clinical association between gout and cardiovascular and metabolic diseases, such as hypertension, hyperlipidaemia and diabetes mellitus, and suggest that serum uric acid may be a marker for the presence of an adverse cardiovascular risk factor profile.
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PMID:Association between serum uric acid and some cardiovascular risk factors in a Chinese population. 793 26


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