Background: Familial Hypercholesterolemia (FH) is a hereditary condition that causes rise in blood cholesterol throughout person’s life. FH can result myocardial infarction and even sudden death if not treated. thought to be caused mainly by variants the gene for low-density lipoprotein receptor (LDLR). This study aimed investigate genetic patients, verify their pathogenicity, comprehend relati...

BACKGROUND The aortic valve dysfunction of patients with homozygous familial hypercholesterolemia (FH) suggests that hypercholesterolemia affects not only coronary arteries but also the aortic valve. We studied the aortic root of patients with homozygous FH and those of patients with heterozygous FH to characterize the premature atherosclerotic lesions by using histopathologic specimens. METH...

BACKGROUND For children with familial hypercholesterolemia (FH), UK guidelines recommend consideration of statin therapy by age 10 years and dietary and lifestyle advice to maintain an ideal body weight. OBJECTIVES The objective of the study is to use the UK Paediatric Familial Hypercholesterolemia Register to determine: (1) the prevalence of plasma markers of liver toxicity and muscle damage...

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 individuals cardiovasc...

There is enough evidence, that children and adolescents with Familial Hypercholesterolemia (FH) should be treated in order to reduce elevated Total chol LDL-c levels therefore avoid the risk of early cardiovascular diseases. are many papers published last years dealing drug treatment, several publications describe guidelines for therapy, however most without any data on effect recommended measu...

Familial hypercholesterolemia (FH) is a common and serious dominant genetic disease, and its main pathogenic gene is the low-density lipoprotein receptor (LDLR) gene. This study aimed to perform a systematic review of LDLR mutations in China. Using PubMed, Embase, Wanfang (Chinese), the Chinese National Knowledge Infrastructure (Chinese), and the Chinese Biological and Medical database (Chinese...

OBJECTIVE Annexin A5 (ANXA5) has been suggested to possess antiatherogenic properties. We investigated whether ANXA5 genetic variations and plasma ANXA5 levels were associated with carotid atherosclerosis and contributed to cardiovascular disease (CVD) risk in patients with familial hypercholesterolemia (FH). METHODS We sequenced the promoter region and exon 2 of ANXA5 in 284 FH patients from...

OBJECTIVE The aim of the study is to explore the potential familial hypercholesterolemia markers by comparing with healthy controls. MATERIAL AND METHODS We downloaded the gene expression profile GSE13985 from Gene Expression Omnibus database including five patients diagnosed with familial hypercholesterolemia (FH) and five age, sex, status matched controls. We applied t-test, Wilcox test and...

Cardiovascular disease (CVD) is the leading cause of death in the Western world. Atherosclerosis is the most common pathological vascular change underlying CVD with hypercholesterolemia constituting a major risk factor. Heterozygous familial hypercholesterolemia (FH) is a common autosomal dominant disease with a prevalence of 1:500 in the general population. Thus, approximately 13 million peopl...

High levels of very low density lipoprotein triglycerides and low levels of high density lipoprotein cholesterol have been found to be associated with insulin resistance measured by the euglycemic clamp technique. In contrast, the association of isolated hypercholesterolemia with insulin resistance has not been systematically studied. Therefore, we performed two separate studies designed to inv...