Familial hypercholesterolaemia: cholesterol efflux and coronary disease

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Familial hypercholesterolaemia: cholesterol efflux and coronary disease

BACKGROUND Coronary heart disease (CHD) risk inversely associates with levels of high-density lipoprotein cholesterol (HDL-C). The protective effect of HDL is thought to depend on its functionality, such as its ability to induce cholesterol efflux. MATERIALS AND METHODS We compared plasma cholesterol efflux capacity between male familial hypercholesterolaemia (FH) patients with and without CH...

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Coronary artery disease and haemostatic variables in heterozygous familial hypercholesterolaemia.

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Coronary Heart Disease, Peripheral Arterial Disease, and Stroke in Familial Hypercholesterolaemia

Arterioscler Thromb Vasc Biol is available at http://atvb.ahajournals.org DOI: 10.1161/ATVBAHA.116.307514 Objective—Heterozygous familial hypercholesterolemia (FH) is the most common premature atherosclerotic cardiovascular disease (ASCVD)–related monogenic disorder, and it is associated with ischemic heart disease. There is limited information whether FH increases the risk of peripheral arteri...

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Inhibition of cholesterol synthesis by atorvastatin in homozygous familial hypercholesterolaemia.

Patients with homozygous familial hypercholesterolaemia (HoFH) have markedly elevated low density lipoprotein (LDL) cholesterol levels that are refractory to standard doses of lipid-lowering drug therapy. In the present study we evaluated the effect of atorvastatin on steady state concentrations of plasma lipids and mevalonic acid (MVA), as well as on 24-h urinary excretion of MVA in patients w...

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Familial hypercholesterolaemia (FH) is a rare disease that tends to be diagnosed lately. In Russia, the genetic and phenotypic characteristics of the disease are not well defined. We investigated 102 patients with definite FH. In 52 of these patients (50.9%) genetic analysis was performed, revealing pathogenic mutations of the low density lipoprotein (LDL) receptor gene in 22 patients. We repor...

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ژورنال

عنوان ژورنال: European Journal of Clinical Investigation

سال: 2016

ISSN: 0014-2972,1365-2362

DOI: 10.1111/eci.12643