Genetic Testing for Heterozygous Familial Hypercholesterolemia

Genetic Testing for Heterozygous Familial Hypercholesterolemia

Genetic testing to confirm a diagnosis of familial hypercholesterolemia (FH) may be considered MEDICALLY NECESSARY when a definitive diagnosis is required as an eligibility criterion for specialty medications and when the following criteria are met:  Genetic testing is targeted to individuals who are in an uncertain category according to clinical criteria (personal and family history, physical...

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...

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...

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

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...