Diagnosis of Familial Hypercholesterolemia: Table 1

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 ...

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...

molecular diagnosis of familial hypercholesterolemia

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...

[Diagnosis and treatment of familial hypercholesterolemia].

Familial hypercholesterolemia is the most frequent monogenetic disease. The mode of transmission is autosomal dominant. This disease is characterized by severe elevations of low-density lipoprotein cholesterol (LDLc), with the possibility of deposits in different tissues. Unless treated appropriately, this disorder carries a high risk of vascular complications and shortened life expectancy. The...