Epidemiology of hypercholesterolemia

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Molecular Diagnosis of Familial Hypercholesterolemia

Abstract Background and objectives: Familial hypercholesterolemia (FH) is an autosomal disorder characterized by increased levels of total cholesterol and low density lipoprotein cholesterol. The FH clinical phenotype has been associated with increased risk of coronary heart disease and premature death. The mutation in LDLR gene in most cases is responsible for FH phenotype. Furthermore, other ...

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Molecular genetic epidemiology of homozygous familial hypercholesterolemia in the Hokuriku district of Japan.

AIM Familial hypercholesterolemia (FH) is caused by mutations of FH genes, i.e. LDL-receptor (LDLR), PCSK9 and apolipoprotein B (ApoB) gene. We evaluated the usefulness of DNA analysis for the diagnosis of homozygous FH (homo-FH), and studied the frequency of FH in the Hokuriku district of Japan. METHODS Twenty-five homo-FH patients were recruited. LDLR mutations were identified using the Inv...

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Pitavastatin in the Management of Hypercholesterolemia HYPERCHOLESTEROLEMIA

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Familial hypercholesterolemia: a case report

Abstract Familial hypercholesterolemia (FH) is a hereditary dislipidemia. Patients present with extremely high level of low-density lipoprotein cholesterol (LDL-C), which is due to mutation in the gene of LDL receptor. Homozygous patients (HoFH) whose incidence is 1 in 1.000.000 are at high risk of premature aortic valve stenosis, and coronary artery atherosclerosis. In homozygous individual...

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Epidemiology and Prevention Pregnancy Outcomes in Familial Hypercholesterolemia A Registry-Based Study

Background—Women with familial hypercholesterolemia (FH) are prone to early cardiovascular disease and death. It is unknown whether FH adversely affects pregnant women and birth outcomes. We determined whether heterozygous FH women are at higher risk of premature birth ( 37 gestational weeks), delivering children with low birth weight ( 2500 g) and/or with congenital malformations compared to w...

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ژورنال

عنوان ژورنال: Vnitřní lékařství

سال: 2018

ISSN: 0042-773X,1801-7592

DOI: 10.36290/vnl.2018.005