Medical Definition of Familial hypercholesteraemic xanthomatosis

1. Hyperlipoproteinaemia characterised by increased plasma levels of beta-lipoproteins, cholesterol, and phospholipids, but normal triglycerides; heterozygotes have mild lipid changes and are susceptible to atherosclerosis in middle 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 disorder 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. (05 Mar 2000)

Lexicographical Neighbors of Familial Hypercholesteraemic Xanthomatosis

familial breast cancer
familial cancer
familial chylomicronemia syndrome
familial combined hyperlipemia
familial combined hyperlipidaemia
familial dysbetalipoproteinaemia
familial emphysema
familial erythroblastic anaemia
familial fat-induced hyperlipaemia
familial glycinuria
familial goiter
familial high density lipoprotein deficiency
familial hyperbetalipoproteinaemia
familial hyperbetalipoproteinaemia and hyperprebetalipoproteinaemia
familial hypercholesteraemic xanthomatosis (current term)
familial hypercholesterolaemia
familial hypercholesterolaemia with hyperlipaemia
familial hypercholesterolemia
familial hyperchylomicronaemia
familial hyperchylomicronaemia with hyperprebetalipoproteinaemia
familial hyperlipoproteinaemia
familial hyperprebetalipoproteinaemia
familial hypertriglyceridaemia
familial hypertriglyceridemia
familial hypertrophic cardiomyopathy
familial hypobetalipoproteinaemia
familial hypophosphatemic rickets

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