Hypercholesterolemia: High blood cholesterol. This can be sporadic (occurring with no family history) or familial. Hypercholesterolemia is one form of hyperlipidemia.
Familial hypercholesterolemia is the most common inherited type of hyperlipidemia (high fat or lipid levels in blood). It 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. Familial hypercholesterolemia is recognizable in childhood. Children and other relatives at risk for familial hypercholesterolemia can be screened (checked) for the condition.
Familial hypercholesterolemia is due to a genetic defect in the receptor (the dock on the surface of cells) for LDL (low density lipoprotein).
See also hyperlipidemia.