Glossary of Medical Terms

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FAMILIAL HYPERCHOLESTERAEMIC XANTHOMATOSIS

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.
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