Heterozygous Familial Hypercholesterolemia.

Familial Hypercholesterolemia in Iran: A Novel Frameshift Mutation in Low Density Lipoprotein Receptor (LDLR) Gene

  Background and Objective: Familial hypercholesterolemia (FH) is an autosomal trait, which is caused by mutations in Low Density Lipoprotein Receptor (LDLR) gene. FH penetrance is about 100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous 1 in 1,000,000. The patients are at risk of premature coronary heart disease (CHD) due to defective LDLR a...

A Novel Mutation in Exon 4 of the Low Density Lipoprotein (LDL) Receptor Gene in an Iranian Familial Hypercholesterolemia Patient

Familial hypercholesterolemia (FH) is an autosomal co-dominant disorder of lipid metabolism, caused by mutations in LDL receptor gene. The penetrance of FH is almost 100%, meaning that half of the offspring of affected parents born with disease. The patients are at risk of premature coronary heart disease (CHD). There is no report about the molecular basis of FH in Iran. Identification of mutat...

Pharmacokinetics, efficacy, and safety of pravastatin in children. Studies in children with heterozygous familial hypercholesterolemia and in pediatric cardiac transplant recipients

This thesis is based on the following original publications, which are referred to in the text by Roman numerals. pharmacodynamics of pravastatin in children with familial hypercholesterolemia. Efficacy and safety of pravastatin in children and adolescents with heterozygous familial hypercholesterolemia: a prospective clinical follow-up study. noncholesterol sterols in children with familial hy...

Genetic Testing for Heterozygous Familial Hypercholesterolemia

Patient Selection Criteria Coverage eligibility for genetic testing to confirm a diagnosis of familial hypercholesterolemia (FH) will be met when:  Genetic testing is targeted to individuals who are in an uncertain category according to clinical criteria (personal and family history, physical exam, lipid levels), AND  Alternative treatment considerations are in place for individuals who have ...

The influence of mevinolin on the adrenal cortical response to corticotropin in heterozygous familial hypercholesterolemia.

The biosynthesis of adrenal corticosteroids in humans depends on a continuous supply of cholesterol, which can be derived from both local synthesis and receptor-mediated uptake of low density lipoproteins (LDL) from plasma. Mevinolin, an inhibitor of 3-hydroxy-3-methylglutaryl-CoA reductase [mevalonate:NAD+ oxidoreductase (CoA-acylating), EC 1.1.1.88] is an effective hypolipidemic agent in pati...

Ethical issues in molecular screening for heterozygous familial hypercholesterolemia: the complexity of dealing with genetic susceptibility to coronary artery disease.