2018
DOI: 10.21518/2079-701x-2018-17-253-259
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Homozygous familial hypercholesterolemia: modern aspects of pathogenesis, diagnostics and treatment

Abstract: Homozygous familial hypercholesterolemia is a rare genetic disease featuring extremely high of low-density lipoprotein blood level, cutaneous and tendon xanthomas and accelerated atherosclerosis with often manifestions in the first 2 decades of life, resulting to premature death due to atherosclerosis-related diseases. Modern combined lipid-lowering therapy is able to increase life duration considerably for these patients.

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Cited by 2 publications
(2 citation statements)
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“…LDL cholesterol and VLDL cholesterol are the most atherogenic lipoproteins. These lipoproteins induce atherogenesis by changing the properties of the endothelium, promoting cell adhesion, and inducing the production of monocytes, macrophages, and the proliferation of smooth muscle cells [24]. Fenton reactions (metal ion catalysis) in the intima lead to reactive oxygen species that can modify the structure of LDL particles, transforming them into oxidized LDL particles [25].…”
Section: Pathophysiologymentioning
confidence: 99%
“…LDL cholesterol and VLDL cholesterol are the most atherogenic lipoproteins. These lipoproteins induce atherogenesis by changing the properties of the endothelium, promoting cell adhesion, and inducing the production of monocytes, macrophages, and the proliferation of smooth muscle cells [24]. Fenton reactions (metal ion catalysis) in the intima lead to reactive oxygen species that can modify the structure of LDL particles, transforming them into oxidized LDL particles [25].…”
Section: Pathophysiologymentioning
confidence: 99%
“…They are complex protein-lipid supramolecular complexes that transport cholesterol and polyunsaturated fatty acids to cells respectively. The receptor uptake of LDL-C by cells is the most important factor determining the cholesterol level in blood [20]. These LP fractions are the leading atherogenesis originators, they change the endothelium properties, promote blood cell adhesion and activation of monocyte/macrophage chemotaxis with subsequent proliferation of smooth muscle cells.…”
Section: Pathophysiological Aspects Of Lipid and Lipoprotein Metabolismmentioning
confidence: 99%