Hyperlipoproteinaemia characterised by heighten
plasma levels of beta-lipoproteins, cholesterol, and phospholipids,
but usual triglycerides; heterozygotes have
mild lipid changes and are susceptible to
atherosclerosis in
medium age,
but homozygotes have severe changes often with
generalised xanthomatosis and xanthelasma, and
frank clinical atherosclerosis as
young adults. The primary
defect is a
deficiency of
apoprotein of VLDL, and the mess is
divided into two classes: 1)
type IIA, which has elevated
LDL due to a
deficiency of the
receptor or a modified
apolipoprotein B-100; 2)
type IIB, which has elevated
LDL and triglycerides;
autosomal dominant inheritance.
Synonym:
familial hyperbetalipoproteinaemia,
familial hypercholesteraemic xanthomatosis,
familial hypercholesterolaemia.