Frequent Detection of Familial Hypercholesterolemia Mutations in Familial Combined Hyperlipidemia
نویسندگان
چکیده
منابع مشابه
Frequent detection of familial hypercholesterolemia mutations in familial combined hyperlipidemia.
amilial combined hyperlipidemia (FCH) is the most comon genetic cause of hyperlipidemia, affecting approxiately 1% of the population. It was first described in the eattle Myocardial Infarction Study in 1973 (1). This ondition is characterized by variable lipid phenotypes increased levels of triglycerides or cholesterol or both lipids) n the proband and in relatives that may vary within an ndivi...
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A child showed a type IIb lipoprotein pattern and triglyceride-enriched cutaneous xanthomas before 1 year of age. The proband and 9 of 18 relatives had elevated plasma levels of low density lipoprotein (LDL) B protein; of these nine relatives, four had elevated LDL of increased density while five had elevated LDL of normal density. Compared with normal LDL, LDL of increased density had less cho...
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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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There is a paucity of data concerning the metabolic syndrome (MetS) in families with familial combined hyperlipidemia (FCHL), familial hypertriglyceridemia (FHTG), familial hypercholesterolemia (FH) and normolipidemic families in China. This study investigated the prevalence of MetS in these families and explored potential factors relevant to MetS. We recruited 70 families with 560 individuals ...
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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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ژورنال
عنوان ژورنال: Journal of the American College of Cardiology
سال: 2008
ISSN: 0735-1097
DOI: 10.1016/j.jacc.2008.08.012