Familial hypercholesterolemia means: Familial hypercholesterolemia: The most common inherited type of hyperlipidemia high lipid levels in the blood. Familial hypercholesterolemia can be recognized in childhood. It is caused by genetic defects in LDL receptor targets. Mutations in the LDL receptor gene LDLR (chromosome 19) are responsible for hypercholesterolemia, which is most commonly autosomal dominant. This disorder can also be caused by other, less common forms. A person with familial hypercholesterolemia is more likely to develop premature arteriosclerosis. This can also lead to heart attacks, especially if they are young. The treatment involves diet modifications and taking cholesterol-lowering medication.
(in Medical Dictionary)