Familial hypercholesterolemia (FH) is a genetic condition that causes high low-density lipoprotein (LDL) cholesterol (sometimes referred to as bad cholesterol) from birth. FH means high cholesterol that runs in a family. FH is caused by specific DNA changes that are passed on from parents to their children. It is not caused by lifestyle factors such as a high-fat diet or lack of exercise. There...

BackgroundHomozygous familial hypercholesterolemia (HoFH) is life-threatening orphan disease characterized by high levels of low-density lipoprotein cholesterol (LDL-C). Untreated patients often present with extensive xanthomas and marked premature atherosclerotic cardiovascular (ASCVD) before the age 20. Prior to advent statins extracorporeal LDL filtration techniques, survival beyond 30 years...

These data describe the phenotypic variability in a large cohort of patients confirmed to have homozygous familial hypercholesterolemia. Herein, we describe the observed relationship of treated low-density lipoprotein cholesterol with age. We also overlay the low-density lipoprotein receptor gene (LDLR) functional status with these phenotypic data. A full description of these data is available ...

Familial hypercholesterolemia (FH) is a genetic disease presented by high levels of serum low density lipoprotein (LDL), xanthomas and early coronary artery disease (CAD). The diagnosis of Homozygous Familial Hypercholesterolemia (HoFH) is based on a family history of elevated cholesterol, persistent high LDL levels despite maximum medical treatment and the development of xanthomas and early at...

The enzymes of biosynthesis are usually bound to membranes and require an undisturbed lipid environment for regulated activity. In familial hypercholesterolemia, this lipid environment is disturbed and there is a low cholesterol ester level in the cellular membranes that results from impaired processing of low density lipoprotein (LDL). Thus, altered activities of various synthesizing enzymes c...

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 ...