A high blood-cholesterol level over 300mg per 100ml that disposes to atheroma – a degenerative arterial disease with high blood pressure and coronary thrombosis. Treatment same as for Hyperlipidaemia.
See CHOLESTEROL; HYPERLIPIDAEMIA.
n. the presence of elevated concentrations of *cholesterol in the blood (see also hyperlipidaemia), which predisposes to atheromatous disease (see atheroma). Familial hypercholesterolaemia is an autosomal *dominant condition in which raised levels of *low-density lipoprotein (LDL) result from a mutation in the LDL receptor gene, producing a deficiency of LDL receptors, which normally remove cholesterol from the circulation. The *heterozygous state, with LDL levels of 5–10 mmol/1, may not be detected until adulthood; usual signs are tendon *xanthomas on the backs of the hands and a *corneal arcus. The *homozygous state is much more serious as cardiovascular complications can occur in childhood, due to massively increased total cholesterol levels (>12 mmol/1).
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