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)

Because of the high incidence for development of a secondary hyperlipemia during chronic alcohol intake, this study was performed to look for a possible reason, why some patients produce severe hyperlipemia and other ones not. 15 male patients with chronic alcoholism (group I) who produce under influence of alcohol a secondary type-V hyperlipoproteinemia (type-V HLP) were compared with 15 male controls. Additionally, 8 male patients with chronic alcoholism (group II) who were normolipemic under alcohol abuse, and 7 male patients (group II) who had also produced type-V HLP under chronic alcohol abuse, but were teetotal since at least 6 months, were investigated. In comparison with controls, patients of group I showed significantly (p less than 0.01) increased plasma concentrations of very low-density lipoproteins (VLDL) and significantly decreased plasma concentrations of low-density lipoproteins (LDL), high-density lipoproteins2 (HDL2) and HDL3 (all p less than 0.01). Furthermore, the activities of postheparin lipoprotein lipase (LPL) and hepatic lipase (HTGL) were significantly decreased (both p less than 0.01). In patients of group III, the plasma concentrations of lipoproteins did not differ significantly from controls, but the activity of LPL was also significantly impaired (p less than 0.01), whereas the activity of HTGL was distinctly (p less than 0.01) increased. No significant difference between patients of group II and controls could be demonstrated. It is concluded that severe alcohol intake strongly impairs LPL in patients with chronic alcoholism. The pronounced increase of HTGL in patients of group III seems to protect these individuals from producing severe hyperlipemia under the influence of alcohol.
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PMID:[Lipoproteins, post-heparin lipoprotein lipase and hepatic triglyceride lipase in patients with and without severe hyperlipemia caused by alcoholism]. 401 22

Of 311 patients with primary acute pancreatitis, seven revealed major and seven minor lipid abnormalities on hospital admission. One pregnant woman suffered acute pancreatitis associated with Fredrickson type I hyperlipoproteinaemia. Twelve of the 13 men with types IV and V hyperlipoproteinaemia suffered alcohol abuse pancreatitis and represented 13.2 per cent of this aetiological group. However, only one of the 157 patients (0.6 per cent) with biliary disease had lipid abnormalities. Two of the 13 men died--the oldest, who had gallstones, and one with alcohol related disease. The remaining 11 were subject to follow-up (5-10 years). Six, who had improvement of their lipid abnormalities, had abstained from alcohol. The other five had a persistent lipid disorder, and all admitted continuing heavy alcohol ingestion. The clinical diagnosis of acute pancreatitis was supported by serum amylase elevation in only nine of the fourteen patients. Urinary amylase levels were consistent with the diagnosis in 11 of the 12 patients. Estimation of both serum and urinary amylase gave 100 per cent support to the clinical diagnosis of acute pancreatitis. Hyperlipidaemia associated with acute pancreatitis may be secondary to alcohol abuse but the possible role of HLP cannot be discounted. Urinary amylase is useful in diagnosing acute pancreatitis in the presence of hyperlipidaemia.
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PMID:Hyperlipidaemia, alcohol abuse and acute pancreatitis. 620 8

Ultrasonographic examinations were carried out in 174 patients with various types of hyperlipoproteinaemia, determining the incidence of the features of liver steatosis. In the group of 77 patients with hypercholesterolaemia (TCH > 200 mg%) the features of liver steatosis occurred in 13 cases (16.9%). In 90 patients with mixed hyperlipidaemia (TCH > 200 mg%, TG > 2.3 mmol/l) the features of liver steatosis were found in 50% of cases. Both in the groups of patients with hypercholesterolaemia and with mixed HLP, the patients with liver steatosis had significantly higher body mass index. In the group of patients with hypercholesterolaemia (without and with the features of liver steatosis) no differences were found in the concentrations of total cholesterol (TCH), triglycerides (TG) and high density lipoprotein fraction (HDL). In the patients with mixed HLP and the features of liver steatosis in USG examination, the mean serum triglyceride concentration was 6.2 mmol/l and was almost twice higher than that in the group without steatosis. The serum HDL concentration in the patients with mixed HLP was 39.2 mg% and was significantly lower than that in the patients with the same type of lipid concentration disturbances but without liver steatosis (48.2 mg%). The total serum cholesterol concentration was not differing significantly between the patients with liver steatosis and those without this pathological condition.
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PMID:[Liver steatosis assessed by ultrasonographic examination in patients with hyperlipoproteinemia]. 748 17

A new rare apolipoprotein E mutant was identified as we were investigating the apolipoprotein E genotype of patients with type III hyperlipidemia (HLP III). The unusual DNA restriction fragment length polymorphism profile and then the sequence analysis of a PCR amplified fragment of the proband's apo E gene revealed a simple base substitution (G-->T) at nucleotide 3836. This mutation leads to the replacement of arginine by leucine at position 142 of the mature protein. The proband carried the mutant allele at the heterozygous status with an epsilon 3 allele. Subsequently, analysis of the proband's father's apo E gene showed that same mutated allele associated with an epsilon 2 allele. The two subjects presented a dysbetalipoproteinemia in which this new apo E variant could be implicated.
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PMID:Identification of a new apolipoprotein E variant (E2 Arg142-->Leu) in type III hyperlipidemia. 777 63

While determining the apolipoprotein-E (apo-E) genotype of 22 patients with type III hyperlipidemia (HLP III) by restriction isotyping, we identified a new mutant form of apo-E by its unusual DNA restriction fragment length polymorphism pattern. DNA sequence analysis of a polymerase chain reaction-amplified portion of the proband's apo-E gene revealed the substitution of cysteine (TGC) for arginine (CGC) at position 136 in the mutant allele (designated R136C). Lipoproteins containing this mutant protein bound defectively to macrophages in vitro, confirming the contribution of R136C to the expression of HLP III in the proband. The proband's two siblings carried the mutant allele and were also heterozygous for E2. Each also had dysbetalipoproteinemia (indicated by the presence of beta-very low density lipoprotein), but neither was hyperlipidemic, attesting to the importance of other factors for the full expression of HLP III. The mutant allele appears to contribute to the inheritance of HLP III in a recessive fashion. Restriction isotyping facilitates the diagnosis of subjects with HLP III, aids in the identification of affected individuals through family screening, and can contribute to the discovery of new mutations that help explain the pathogenesis of HLP III.
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PMID:Detection of a new apolipoprotein-E mutation in type III hyperlipidemia using deoxyribonucleic acid restriction isotyping. 790 41

We report on a 17-year-old female patient with hyperlipidaemia, apoE2 homozygosity and characteristic dermatological features of type-III hyperlipoproteinaemia (HLP III). In contrast to the "classical" lipoprotein phenotype, with hypercholesterolaemia and hypertriglyceridaemia, in our case an elevated LDL cholesterol level was also present. To the best of our knowledge, this is the eleventh report in the literature of HLP III onset in a child or an adolescent. Treatment with several antilipidaemic drugs resulted only in a reduction of the serum triglyceride concentration, and not in an improvement of the hypercholesterolaemia or the elevated LDL cholesterol level. This therapeutic response was explained with reference to an uncommon association of the apoE2 homozygosity with the homo- or heterozygote state of familial hypercholesterolaemia. Another explanation for this phenomenon is the possible combination of the apoE2 homozygosity with a familial apolipoprotein-B 100 defect that has only recently come to light.
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PMID:[Severe type III hyperlipoproteinemia with unusual lipoprotein phenotype in an adolescent patient]. 837 10

Transgenic mice were prepared that expressed a dysfunctional apo E variant, apo E (Arg-112, Cys-142), which is associated with dominant inheritance of type III hyperlipoproteinemia (type III HLP) in humans. Among eight founder mice, plasma apo E (Arg-112, Cys-142) levels varied 100-fold and directly correlated with plasma cholesterol and triglyceride levels. On a normal chow diet, mice expressing high levels (> 70 mg/dl) of the dysfunctional apo E had grossly elevated plasma lipids, with cholesterol levels of up to 410 mg/dl and triglyceride levels of up to 1,210 mg/dl. Upon agarose electrophoresis, plasma from these mice demonstrated beta-very low density lipoproteins (beta-VLDL). Mice expressing low (< 2.5 mg/dl) or intermediate (21 mg/dl) levels of the apo E variant had much less severe hyperlipidemia and did not have beta-VLDL. Although the transgenic mouse beta-VLDL were enriched in cholesteryl esters compared with normal mouse VLDL, they were not as cholesterol enriched as human beta-VLDL from type III HLP subjects. Transgenic mouse beta-VLDL injected into normal mice were cleared from plasma at a significantly slower rate than normal mouse VLDL, demonstrating the impaired catabolism of beta-VLDL. Thus, transgenic mice expressing high levels of the dysfunctional apo E (Arg-112, Cys-142) variant have many characteristics of the human type III HLP phenotype and appear to be a suitable animal model for this disorder.
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PMID:Type III hyperlipoproteinemic phenotype in transgenic mice expressing dysfunctional apolipoprotein E. 837 2

Fatty acid (FA) profiles of total serum lipids were determined by capillary gas chromatography in Type 2 diabetic patients (NIDDM) with diverse types of hyperlipidemia. In patients with hypertriglyceridemia (DM-HTG) and combined hypertriglyceridemia and hypercholesterolemia (DM-HLP), a significantly different total FA composition was found compared with healthy controls or diabetics with normal serum lipids. In particular, the proportions of saturated and monounsaturated FA were increased and the proportions of n-6 polyunsaturated FA were decreased. In DM-HLP patients, PUFA n-6 metabolites and C20-C22 PUFA were also decreased. Thus, hyperlipidemia shifts significantly the serum FA composition in NIDDM patients into an atherogenic profile. More study is needed, however, to understand if serum FA changes may contribute to the increased atherogenesis commonly found in these patients.
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PMID:The effect of hyperlipidemia on serum fatty acid composition in type 2 diabetics. 932 91

Epidemiologic studies and in vitro experiments indicate that low density lipoprotein (LDL) subtypes differ concerning their atherogenic potential. Small, dense LDL are more atherogenic than large, buoyant LDL. LDL apheresis is a potent therapeutic modality to lower elevated LDL-cholesterol. It is unknown whether such therapy induces a shift in the LDL subtype distribution. In this study we evaluated the influence of LDL apheresis on the LDL subtype distribution in patients with CHD and familial hypercholesterolemia (FH, n = 22), combined hyperlipidemia (CHLP, n = 6), or Lp[a]-hyperlipoproteinemia (Lp[a]-HLP, n = 4) regularly treated by LDL apheresis (immunoadsorption (n = 14), HELP apheresis (n = 8), dextran sulfate adsorption (n = 7), cascade filtration (n = 3)). On the basis of 6 LDL subfractions (d 1.020;-1.057 g/mL) isolated by density gradient ultracentrifugation the LDL-density profile was determined in each patient before and after apheresis. There was a relative increase of LDL-subfractions 1, 2, and 3 (P < 0.01, P < 0. 05, and P < 0.01, respectively) and a concomitant decrease of LDL subfractions 5 and 6 (P < 0.05) after apheresis. Subgroup analysis indicates that the degree of the small, dense LDL reduction was much more prominent in patients with CHLP compared to patients with FH or Lp[a]-HLP, whereas the type of apheresis technique had no effect. The extent of small, dense LDL reduction correlated with the preapheresis concentrations of small, dense LDL and triglycerides but not with the extent of triglyceride reduction.We conclude that LDL apheresis not only decreases LDL mass, but also improves LDL-density profile, particularly in patients with CHLP.
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PMID:Influence of LDL apheresis on LDL subtypes in patients with coronary heart disease and severe hyperlipoproteinemia. 1078 33

Factors predisposing to the phenotypic features of familial combined hyperlipidemia have not been clearly defined. In the course of investigating familial coronary artery disease in Utah, we identified a three-generation family in which multiple members were affected with type IIa hyperlipoproteinemia (HLP IIa), type IIb hyperlipoproteinemia (HLP IIb), or type IV hyperlipoproteinemia (HLP IV). Because several family members had relatively severe low-density lipoprotein (LDL) cholesterol elevation, in order to dissect the possible contribution to the plasma lipoprotein abnormalities in this pedigree, we identified a novel point mutation in the low-density lipoprotein receptor (LDLR) gene, a G-to-A transition at nucleotide position 337 in exon 4. This change substituted lysine for glutamic acid at codon 92 (D92K) of the LDL receptor. By means of mutant allele-specific amplification we determined that the mutation co-segregated with elevated cholesterol and LDL cholesterol in the plasma of family members with HLP IIa and HLP IIb, but not with the elevated plasma triglycerides seen in HLP IIb and HLP IV patients. Thus, in families with apparent familial combined hyperlipidemia, a defective LDLR allele and other genetic or environmental factors that elevate plasma triglycerides may account for the multiple lipid phenotypes observed in this kindred.
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PMID:Co-segregation of elevated LDL with a novel mutation (D92K) of the LDL receptor in a kindred with multiple lipoprotein abnormalities. 1080 40


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