Disease relevance of Hyperlipidemia, Familial Combined

• More than one lipid level was abnormal in almost all concordant sibships, suggesting an association between hypertension and a syndrome of mixed lipid abnormalities, probably familial combined hyperlipidemia (renamed "familial combined dyslipidemia" because of common low high-density lipoprotein cholesterol levels) [1].
• CONCLUSIONS: Although gemfibrozil with either colestipol or lovastatin favorably altered lipoprotein levels in patients with hypertriglyceridemia and familial combined hyperlipidemia, the combination of gemfibrozil and lovastatin appeared superior overall [2].
• BACKGROUND: Heterozygous lipoprotein lipase (LPL) deficiency has been associated with familial hypertriglyceridemia and familial combined hyperlipidemia [3].
• We review recent studies that examine the genetic contribution and functional consequence of upstream transcription factor 1 variants to familial combined hyperlipidemia and type 2 diabetes mellitus [4].
• OBJECTIVES: We sought to study whether patients with familial combined hyperlipidemia (FCH) or carotid atherosclerosis have modified circulating solubilized Fas ligand (sFasL) levels, as well as the potential modifications by atorvastatin [5].

High impact information on Hyperlipidemia, Familial Combined

• Familial combined hyperlipidemia is associated with upstream transcription factor 1 (USF1) [6].
• LpL deficiency would reduce local reuptake of apo B, which would appear as overproduction, thereby providing a mechanistic link between partial LpL deficiency and familial combined hyperlipidemia [7].
• STUDY OBJECTIVE: To compare the efficacy of gemfibrozil and colestipol with gemfibrozil and lovastatin in patients with familial combined hyperlipidemia [2].
• Identification of TNFRSF1B as a novel modifier gene in familial combined hyperlipidemia [8].
• Apolipoprotein A5 (APOA5) is associated with differences in triglyceride levels and familial combined hyperlipidemia [9].

Chemical compound and disease context of Hyperlipidemia, Familial Combined

• Decreased circulating Fas ligand in patients with familial combined hyperlipidemia or carotid atherosclerosis: normalization by atorvastatin [5].
• Familial dysalbuminemic hyperthyroxinemia (FDH), an autosomal disorder characterized by an increase in serum albumin binding of thyroxine, has been encountered in a family who was also found to have both familial hypercholesterolemia (FHC) and multiple lipoprotein type hyperlipidemia (MLH) [10].
• Impaired insulin-stimulated glucose oxidation and free fatty acid suppression in patients with familial combined hyperlipidemia: a precursor defect for dyslipidemia [11]?
• The redox status of coenzyme Q10 in total LDL as an indicator of in vivo oxidative modification. Studies on subjects with familial combined hyperlipidemia [12].
• Low plasma vitamin A concentrations in familial combined hyperlipidemia [13].

Biological context of Hyperlipidemia, Familial Combined

• This, and the location of the apoA-II gene in chromosome 1q23, a hot region in the search for genes associated with familial combined hyperlipidemia, insulin resistance and type 2 diabetes mellitus, has greatly increased interest in this protein [14].
• Therefore, the role of genetic variation at the apolipoprotein A-IV locus in familial combined hyperlipidemia (FCHL) was investigated [15].
• Contribution of the hepatic lipase gene to the atherogenic lipoprotein phenotype in familial combined hyperlipidemia [16].
• Vitamin A is linked to the expression of the AI-CIII-AIV gene cluster in familial combined hyperlipidemia [17].
• We previously reported a compound heterozygote [T(-39)C/T(-93)G] in the human lipoprotein lipase (LPL) gene promoter in one out of 19 patients with familial combined hyperlipidemia (FCHL) and reduced post-heparin plasma LPL levels [18].

Anatomical context of Hyperlipidemia, Familial Combined

• Regulatory mutations in the human lipoprotein lipase gene in patients with familial combined hyperlipidemia and coronary artery disease [18].
• When the subjects with primary hypertriglyceridemia were further subdivided by genetic diagnosis, there was no difference in the level of adipose tissue lipoprotein lipase of subjects with familial hypertriglyceridemia, familial combined hyperlipidemia, or in those in whom no specific genetic diagnosis could be made [19].

Gene context of Hyperlipidemia, Familial Combined

• TXNIP gene not associated with familial combined hyperlipidemia in the NHLBI Family Heart Study [20].
• Evidence against alterations in Lecithin:cholesterol acyltransferase (LCAT) activity in familial combined hyperlipidemia [21].
• Soluble receptors for tumor necrosis factor-alpha (TNF-R p55 and TNF-R p75) in familial combined hyperlipidemia [22].
• Identification of the PPARA locus on chromosome 22q13.3 as a modifier gene in familial combined hyperlipidemia [23].
• Common variants in the lipoprotein lipase gene, but not those in the insulin receptor substrate-1, the beta3-adrenergic receptor, and the intestinal fatty acid binding protein-2 genes, influence the lipid phenotypic expression in familial combined hyperlipidemia [24].

Analytical, diagnostic and therapeutic context of Hyperlipidemia, Familial Combined

• A randomized double blind, placebo-controlled crossover design was used to determine the efficacy of gemfibrozil and clofibrate in the treatment of familial combined hyperlipidemia and to determine which one of these agents would be more effective [25].

References