| hyperbetalipoproteinaemia | Enhanced concentration of beta-lipoproteins in the blood. (05 Mar 2000) |
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| familial hyperbetalipoproteinaemia | 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) |
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| familial hyperbetalipoproteinaemia and hyperprebetalipoproteinaemia | Hyperlipoproteinaemia characterised by increased plasma levels of LDL, beta-lipoproteins, pre-beta-lipoproteins, cholesterol, phospholipids, and triglycerides; hypertriglyceridemia induced by a high carbohydrate diet, and glucose tolerance is abnormal; frequent eruptive xanthomas and atheromatosis, particularly coronary artery disease; biochemical defect lies in apolipoproteins; there are many varieties. Synonym: carbohydrate-induced hyperlipaemia, dysbetalipoproteinaemia, familial hyperbetalipoproteinaemia and hyperprebetalipoproteinaemia, familial hypercholesterolaemia with hyperlipaemia. (05 Mar 2000) |
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