Biomaterial Database

[Hyperlipoproteinemia type III with apolipoprotein E phenotype 2/2]. 1985

R Engst

A 47-year-old male patient with tuberous xanthomas, xanthochromia striata palmaris, hypercholesterolemia, hypertriglyceridemia, chylomicronemia and a "broad-beta" band on agarose gel electrophoresis is the subject of this report. The classification of the metabolic disturbances as hyperlipoproteinemia, type III, with apo E-3 deficiency was derived from the results obtained by isoelectric focusing and density gradient ultracentrifugation. Since June 1983, the patient has been successfully treated with probucol (Lurselle) with no complementary diet. The serum cholesterol concentration was reduced by a maximum of 45%, together with clear regression of the xanthochromia striata palmaris and beginning xanthoma regression. The HDL cholesterol level did not climb again, and there were no side effects as a result of the probucol therapy.

UI	MeSH Term	Description	Entries
D006952	Hyperlipoproteinemia Type III	An autosomal recessively inherited disorder characterized by the accumulation of intermediate-density lipoprotein (IDL or broad-beta-lipoprotein). IDL has a CHOLESTEROL to TRIGLYCERIDES ratio greater than that of VERY-LOW-DENSITY LIPOPROTEINS. This disorder is due to mutation of APOLIPOPROTEINS E, a receptor-binding component of VLDL and CHYLOMICRONS, resulting in their reduced clearance and high plasma levels of both cholesterol and triglycerides.	Autosomal Recessive Hypercholesterolemia,Broad Beta Disease,Dysbetalipoproteinemia,Dysbetalipoproteinemia, Familial,Familial Dysbetalipoproteinemia,Familial Hypercholesterolemia with Hyperlipemia,Hypercholesterolemia, Autosomal Recessive,Hyperlipoproteinemia, Broad-beta,Hyperlipoproteinemia, Type III,Autosomal Recessive Hypercholesterolemias,Broad-beta Hyperlipoproteinemia,Hyperlipoproteinemia, Broad beta,Hyperlipoproteinemias, Type III,Recessive Hypercholesterolemia, Autosomal,Type III Hyperlipoproteinemia,Type III Hyperlipoproteinemias
D008076	Cholesterol, HDL	Cholesterol which is contained in or bound to high-density lipoproteins (HDL), including CHOLESTEROL ESTERS and free cholesterol.	High Density Lipoprotein Cholesterol,Cholesterol, HDL2,Cholesterol, HDL3,HDL Cholesterol,HDL(2) Cholesterol,HDL(3) Cholesterol,HDL2 Cholesterol,HDL3 Cholesterol,alpha-Lipoprotein Cholesterol,Cholesterol, alpha-Lipoprotein,alpha Lipoprotein Cholesterol
D008297	Male		Males
D008875	Middle Aged	An adult aged 45 - 64 years.	Middle Age
D010641	Phenotype	The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.	Phenotypes
D011341	Probucol	A drug used to lower LDL and HDL cholesterol yet has little effect on serum-triglyceride or VLDL cholesterol. (From Martindale, The Extra Pharmacopoeia, 30th ed, p993).	Biphenabid,DH-581,Lorelco,Lurselle,Panavir,Superlipid,DH 581,DH581
D002784	Cholesterol	The principal sterol of all higher animals, distributed in body tissues, especially the brain and spinal cord, and in animal fats and oils.	Epicholesterol
D002914	Chylomicrons	A class of lipoproteins that carry dietary CHOLESTEROL and TRIGLYCERIDES from the SMALL INTESTINE to the tissues. Their density (0.93-1.006 g/ml) is the same as that of VERY-LOW-DENSITY LIPOPROTEINS.	Chylomicron
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001057	Apolipoproteins E	A class of protein components which can be found in several lipoproteins including HIGH-DENSITY LIPOPROTEINS; VERY-LOW-DENSITY LIPOPROTEINS; and CHYLOMICRONS. Synthesized in most organs, Apo E is important in the global transport of lipids and cholesterol throughout the body. Apo E is also a ligand for LDL receptors (RECEPTORS, LDL) that mediates the binding, internalization, and catabolism of lipoprotein particles in cells. There are several allelic isoforms (such as E2, E3, and E4). Deficiency or defects in Apo E are causes of HYPERLIPOPROTEINEMIA TYPE III.	Apo-E,Apo E,Apo E Isoproteins,ApoE,Apolipoprotein E Isoproteins,Apoprotein (E),Apoproteins E,Isoproteins, Apo E,Isoproteins, Apolipoprotein E