Familial Hypercholesterolemia
The elevation of plasma concentrations of apoB-48-containing lipoproteins in familial hypercholesterolemia is independent of PCSK9 levels
... Background: Previous studies have reported high plasma concentrations of both intestinal apolipoprotein (apo) B- 48-containing lipoproteins and PCSK9 in subjects with familial hypercholesterolemia (FH). ...
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Improving the genetic diagnosis of familial hypercholesterolemia
... Familial hypercholesterolemia (FH) is a genetic disorder of severely elevated low- density lipoprotein (LDL) cholesterol that is widely underdiagnosed and ...
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NOVEL THERAPEUTIC OPTIONS FOR FAMILIAL HYPERCHOLESTEROLEMIA
... CONCLUSION: Familial hypercholesterolemia is a disorder of LDL-C metabolism. FH patients are at a sharply increased lifetime risk for cardiovascular disease (CVD) and, if left untreated, clinical symptoms ...
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The genetics of familial hypercholesterolemia and emerging therapies
... Abstract: Familial hypercholesterolemia (FH) results in very high levels of atherogenic low-density lipoprotein (LDL) cholesterol from the time of ...
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Hypocholesterolemic effects of mevinolin in patients with heterozygous familial hypercholesterolemia
... We have evaluated the hypolipidemic effects of mevinolin, a competitive inhibitor of 3- hydroxy-3-methylglutaryl coenzyme A reductase, the rate-limiting enzyme in cholesterol biosynthesis in 13 patients with heterozygous ...
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Combination therapy of statin and ezetimibe for the treatment of familial hypercholesterolemia
... Abstract: High-dose potent statin therapy in combination with ezetimibe is now standard practice for the treatment of adult patients with heterozygous familial hypercholesterolemia (heFH), as the result of ...
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Myeloperoxidase modulation by LDL apheresis in Familial Hypercholesterolemia
... Since hypercholesterolemia is associated with atherosclerosis and inflammation, we tested whether MPO serum levels were up-regulated in Familial Hypercholesterolemia (FH) and whether acute reduction ...
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Familial Hypercholesterolemia: From Diagnosis to Treatment
... Biochemical and clinical characteristics: Familial hypercholesterolemia causes the elevation of total serum cholesterol and serum LDL-C to the high risk levels. Plasma levels of important lipoprotein ...
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Optimal management of familial hypercholesterolemia: treatment and management strategies
... Abstract: Familial hypercholesterolemia is an autosomally dominant disorder caused by various mutations in low-density lipoprotein receptor genes. This will lead to elevated levels of total and low-density ...
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Genetic Analysis of Iranian Patients with Familial Hypercholesterolemia
... Background: Familial hypercholesterolemia (FH) is a frequent autosomal dominant disorder of lipoprotein metabolism. This disorder is generally caused by mutations in low-density lipoprotein receptor (LDLR), ...
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Mipomersen and other therapies for the treatment of severe familial hypercholesterolemia
... Abstract: Familial hypercholesterolemia (FH) is an autosomal dominant condition with a population prevalence of one in 300–500 (heterozygous) that is characterized by high levels of low-density lipoprotein ...
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Genetic screening for homozygous and heterozygous familial hypercholesterolemia
... Abstract: Familial hypercholesterolemia (FH) is a common inherited disorder that results in premature ...mutations. Familial defective Apo B is amenable to genetic diagnosis by screening for a few ...
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Low-density lipoprotein cholesterol outcomes post-non-PCSK9i lipid-lowering therapies in atherosclerotic cardiovascular disease and probable heterozygous familial hypercholesterolemia patients
... heterozygous familial hypercholesterolemia (HeFH) achieving $50% reduction in low-density lipoprotein cholesterol (LDL-C) or reaching the LDL-C #70 mg/dL threshold, after initiating or modifying statin, ...
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The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations
... Abstract: Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism characterized by high plasma concentrations of low-density lipoprotein cholesterol (LDLc), tendon xanthomas, and ...
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Familial hypercholesterolemia
... • Familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder that produces elevations in low-density lipoprotein (LDL) cholesterol. It is an underrecognized and undertreated cause of ...
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Treatment of Familial Hypercholesterolemia in Children and Adolescents: Effect of Lovastatin
... Lovastatin therapy in receptor-negative homozygous familial hypercholesterolemia: lack of effect on low-density lipoprotein concentrations or turnover. Ducobu J, Brasseur D, Chaudron JM,[r] ...
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Risk stratification of patients with familial hypercholesterolemia in a multi-ethnic cohort
... FH: Familial hypercholesterolemia; CVD: Cardiovascular disease; DLCNC: Dutch lipid clinic network criteria; HDL-C: High density lipoprotein cholesterol; Lp (a): Lipoprotein (a); LDL: Low density ...
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Reduction in cholesterol and low density lipoprotein synthesis after portacaval shunt surgery in a patient with homozygous familial hypercholesterolemia
... Reduction in cholesterol and low density lipoprotein synthesis after portacaval shunt surgery in a patient with homozygous familial hypercholesterolemia.. The turnover of 125I-labeled lo[r] ...
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Molecular Diagnosis of Familial Hypercholesterolemia
... 46-Huijgen R, Stork ADM, Defesche JC, Peter J, Alonso R, Cuevas A, Kastelein JJP, Duran M, Stroes ESG. Extreme xanthomatosis in patients with both familial hypercholesterolemia and cerebrotendinous ...
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Diversity in expression of heterozygous familial hypercholesterolemia Characterization of a unique kindred
... Clinical and biochemical characteristics of familial hypercholesterolemia FH heterozygotes possessing an abnormally high molecular weight low density lipoprotein receptor HMWR are report[r] ...
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