How To Identify Familial Premature Myocardial Infarction: Comparing Approaches To Identify Familial Hypercholesterolemia

Familial Hypercholesterolemia: From Diagnosis to Treatment

Familial hypercholesterolemia (FH) is an inherited common autosomal Mendelian disorder of lipoprotein metabolism with a population prevalence of 1 in 500. FH is characterized by severely elevated levels of low-density lipoprotein cholesterol (LDL-C), which result in surplus deposition of cholesterol in tissues. This condition leads to premature at hero sclerosis and early-onset of coronary hear...

Network to Identify Myocardial Infarction

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...

Familial Hypercholesterolemia: new therapeutic approaches

Familial Hypercholesterolemia (FH) is caused by a mutation in the gene that encodes the low-density lipoprotein (LDL) receptor, resulting in very high levels of circulating LDL-cholesterol and endothelial damage during time. Apoprotein B, activated by LDL receptor, and PCSK9 (proprotein convertase subtilisin / kexin type 9 serine Protease), that impairs the clearance of LDL receptors, are impor...

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 ...