Familial hypercholesterolemia

View the Cholesterol Levels Slideshow Pictures

Medical Definition of Familial hypercholesterolemia

Familial hypercholesterolemia: The most common inherited type of hyperlipidemia (high lipid levels in the blood). Familial hypercholesterolemia is recognizable in childhood and is due to genetic defects in the receptor (target) for low-density lipoprotein (LDL). The most common autosomal dominant form of hypercholesterolemia is caused by mutation in the LDL receptor gene (LDLR) on chromosome 19. There are also a number of other less frequent forms of this disorder. Familial hypercholesterolemia predisposes a person to premature arteriosclerosis, including coronary artery disease, and can lead to heart attacks at an unusually young age. Treatment involves dietary modifications and the use of cholesterol-lowering medications.


Quick GuideCholesterol Levels: What the Numbers Mean

Cholesterol Levels: What the Numbers Mean

Subscribe to MedicineNet's Heart Health Newsletter

By clicking Submit, I agree to the MedicineNet's Terms & Conditions & Privacy Policy and understand that I may opt out of MedicineNet's subscriptions at any time.

Reviewed on 6/9/2016

Health Solutions From Our Sponsors