BACKGROUND Genetic lipoprotein disorders have been associated with premature coronary artery disease (CAD). METHODS AND RESULTS The prevalence of such disorders was determined in 102 kindreds (n = 603 subjects) in whom the proband had significant CAD documented by angiography before the age of 60 years. Fasting plasma cholesterol, triglyceride, low density lipoprotein (LDL) cholesterol, apoli...

Heterozygous familial hypercholesterolemia is a common genetic disorder that leads to premature coronary artery disease. Despite aggressive lipid-lowering therapy, many patients with heterozygous familial hypercholesterolemia fail to achieve optimal low-density lipoprotein cholesterol (LDL-C) goals. We evaluated mipomersen, an apolipoprotein B synthesis inhibitor, to further lower LDL-C in pati...

The profoundly elevated concentrations of low-density lipoproteins (LDL) present in homozygous familial hypercholesterolemia lead to symptomatic cardiovascular disease and death by early adulthood. Studies conducted in nonhepatic tissues demonstrated defective cellular recognition and metabolism of LDL in these patients. Since mammalian liver removes at least half of the LDL in the circulation,...

Dysbetalipoproteinemia is a rare familial dyslipidemia characterized by approximately equally elevated serum cholesterol and triglyceride levels due to accumulated remnant lipoproteins in apolipoprotein E2/E2 homozygotes. It is associated with an increased risk for premature cardiovascular disease. Thus, making a diagnosis of dysbetalipoproteinemia aids in assessing cardiovascular risk correctl...

We used the low molecular weight form of apolipoprotein B (B-48) as a marker for the identification of remnant particles formed from chylomicrons in the plasma of patients with familial dysbetalipoproteinemia. In the serum of patients fasted 14 hours, the d less than 1.006 g/cm3 lipoproteins of prebeta mobility, separated by starch block electrophoresis, contained only the primary hepatogenous ...

Monogenically inherited hypercholesterolemia is most commonly caused by mutations at the low density lipoprotein receptor (LDLR) locus causing familial hypercholesterolemia (FH) or at the apolipoprotein B (APOB) locus causing the disorder familial defective apoB (FDB). Probands from 47 kindreds with a strict clinical diagnosis of FH were selected from the Cardiovascular Genetics Research Lipid ...

Background. Hypercholesterolemia and inflammation both contribute to the pathogenesis of atherosclerosis its clinical manifestations. Statins, possessing lipid-lowering anti-inflammatory properties, are currently recommended in all ischemic syndromes. Purpose. To compare effects atorvastatin rosuvastatin on lipid inflammatory markers patients with acute coronary syndromes (ACS). Methods. Two hu...

BACKGROUND Homozygous familial hypercholesterolemia is a rare, serious disorder with a substantial reduction in low-density lipoprotein (LDL) receptor function, severely elevated LDL cholesterol, cardiovascular disease, and often death in childhood. Response to conventional drug therapies is modest. Monoclonal antibodies to proprotein convertase subtilisin/kexin 9 (PCSK9) reduce LDL cholesterol...