Familial Hypercholesterolemia
Definition
Familial hypercholesterolemia is a condition passed down through families in which a person has high levels of "bad" cholesterol (low density lipoprotein, or LDL) beginning at birth. The condition can cause heart attacks at an early age.
See also:
* Familial combined hyperlipidemia
* Familial hypertriglyceridemia
* Familial dysbetalipoproteinemia
Symptoms
Symptoms that may occur include:
* Fatty, cholesterol-rich skin deposits (xanthomas)
* Cholesterol deposits in the eyelids (xanthelasmas)
* Chest pain (angina) associated with coronary artery disease
* Obesity
Persons with either one or two copies of the defective gene can develop fatty skin deposits over their elbows, knees, buttocks, tendons, and around the cornea of the eye.
