| familial hypercholesteraemic xanthomatosis | 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 hypercholesterolaemia | <biochemistry, cardiology> Excess of cholesterol in plasma as a result of defects in the recycling process that leads to reduced uptake of LDL (low density lipoprotein) into coated vesicles. (18 Nov 1997) |
| familial hypercholesterolaemia with hyperlipaemia | 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) |
| familial hyperchylomicronaemia | Hyperlipoproteinaemia characterised by the presence of large amounts of chylomicrons and triglycerides in the plasma when the patient has a normal diet, and their disappearance on a fat-free diet; low alpha-and beta-lipoproteins on a normal diet, with increase on fat-free diet; decreased plasma postheparin lipolytic activity; and low tissue lipoprotein lipase activity. It is accompanied by bouts of abdominal pain, hepatosplenomegaly, pancreatitis, and eruptive xanthomas; autosomal recessive inheritance. See: familial lipoprotein lipase inhibitor. Synonym: Burger-Grutz syndrome, familial fat-induced hyperlipaemia, familial hyperchylomicronaemia, familial hypertriglyceridemia, idiopathic hyperlipaemia. (05 Mar 2000) |
| familial hyperchylomicronaemia with hyperprebetalipoproteinaemia | Hyperlipoproteinaemia characterised by increased plasma levels of chylomicrons, VLDL, pre-beta-lipoproteins, and triglycerides, and slight rise of cholesterol on a normal diet, with beta-lipoproteins normal; may be accompanied by bouts of abdominal pain, hepatosplenomegaly, susceptibility to atherosclerosis, and abnormal glucose tolerance; probably autosomal recessive inheritance. Synonym: combined fat-and carbohydrate-induced hyperlipaemia, familial hyperchylomicronaemia with hyperprebetalipoproteinaemia, mixed hyperlipaemia. (05 Mar 2000) |
| familial hyperlipoproteinaemia | <biochemistry> A relatively rare (7 out of 1,000) genetic disease in which there is elevation in the blood triglycerides, cholesterol and low density lipoprotein (LDL). Also called type II hyperlipoproteinaemia, familial hyperlipoproteinaemia or familial hypercholesterolaemia. Origin: Gr. Haima = blood (27 Sep 1997) |
| familial hyperprebetalipoproteinaemia | Plasma levels of VLDL, pre-beta-lipoproteins and triglycerides are increased on a normal diet, but beta-lipoproteins, cholesterol, and phospholipids are normal; hypertriglyceridemia is induced by a high carbohydrate diet; may be accompanied by abnormal glucose tolerance and susceptibility to ischemic heart disease; probably autosomal recessive inheritance. Synonym: carbohydrate-induced hyperlipaemia, familial hyperprebetalipoproteinaemia, familial hypertriglyceridemia. (05 Mar 2000) |
| familial hypertriglyceridaemia | <biochemistry> A common inherited disorder in which the concentration of VLDL is elevated in the bloodstream. VLDL is the lipoprotein carrier that carries triglycerides. Elevations of the triglyceride level (particularly in association with elevated cholesterol) have been correlated with the development of atherosclerosis, the underlying cause of heart disease and stroke. (27 Sep 1997) |
| familial hypertriglyceridemia | Hyperlipoproteinaemia characterised by the presence of large amounts of chylomicrons and triglycerides in the plasma when the patient has a normal diet, and their disappearance on a fat-free diet; low alpha-and beta-lipoproteins on a normal diet, with increase on fat-free diet; decreased plasma postheparin lipolytic activity; and low tissue lipoprotein lipase activity. It is accompanied by bouts of abdominal pain, hepatosplenomegaly, pancreatitis, and eruptive xanthomas; autosomal recessive inheritance. See: familial lipoprotein lipase inhibitor. Synonym: Burger-Grutz syndrome, familial fat-induced hyperlipaemia, familial hyperchylomicronaemia, familial hypertriglyceridemia, idiopathic hyperlipaemia. (05 Mar 2000) |
| familial hypertrophic cardiomyopathy | Familial occurrence of hypertrophic cardiomyopathy exhibiting an autosomal dominant pattern of inheritance. Familial cardiomyopathy of various kinds occurs with autosomal dominant inheritance. There is also an asymmetrical form affecting the ventricles and the interventricular septum. (05 Mar 2000) |
| familial hypobetalipoproteinaemia | A disorder similar to abetalipoproteinaemia; chylomicron formation still occurs, but LDL levels are typically low. (05 Mar 2000) |
| familial hypogonadotropic hypogonadism | A group of disorders characterised by failure of sexual development, owing to inadequate secretion of pituitary gonadotropins; perhaps X-linked or autosomal recessive inheritance. (05 Mar 2000) |
| familial hypophosphatemic rickets | <radiology> X-linked recessive, defect in renal tubular resorption of phosphate, presents at 1 yr, progressive limb deformities X-ray: less severe changes than other rickets, presents later Differential diagnosis features: family hx, normal serum calcium, marked hypophosphataemia (decreased PO4), no secondary hyperparathyroidism (12 Dec 1998) |
| familial hypoplastic anaemia | Congenital nonregenerative, familial hypoplastic, or pure red cell anaemia; erythrogenesis imperfecta; Diamond-Blackfan syndrome; autosomal recessive normocytic normochromic anaemia resulting from congenital hypoplasia of the bone marrow, which is grossly deficient in erythroid precursors while other elements are normal; anaemia is progressive and severe, but leukocyte and platelet counts are normal or slightly reduced; survival of transfused erythrocytes is normal; minor congenital anomalies are found in some patients. Synonym: congenital nonregenerative anaemia, Diamond-Blackfan anaemia, Diamond-Blackfan syndrome, erythrogenesis imperfecta, familial hypoplastic anaemia, pure red cell anaemia. (05 Mar 2000) |
| familial intestinal polyposis | Begins usually in late childhood; polyps increase in numbers, causing symptoms of chronic colitis, and carcinoma of the colon almost invariably develops in untreated cases; autosomal dominant inheritance. In the Gardner syndrome there are extracolonic changes (desmoid tumours, etc.). Synonym: polyposis coli. Hamartomatous polyposis of the small or large intestine, Peutz-Jeghers syndrome with melanin spots on the lips, less common, miscellaneous, rare, and doubtful occurrences. Synonym: familial intestinal polyposis. (05 Mar 2000) |