Familial hypercholesterolemia: The most common inherited type of hyperlipidemia (high lipid levels in blood). It is recognizable in childhood.
Familial hypercholesterolemia predisposes to premature arteriosclerosis including coronary artery disease with heart attacks at an unusually young age. About half of men and a third of women suffer a heart attack by age 60.
Persons with familial hypercholesterolemia can reduce their risk by adhering to a very low cholesterol diet under a doctor's supervision, and may also need to take medications that reduce their cholesterol level. Children and other relatives at risk for familial hypercholesterolemia can be screened (checked) for the condition and treated if they have it.
Familial hypercholesterolemia is due to a genetic defect in the receptor (target) for LDL (low density lipoprotein).
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