[Hyperlipoproteinemia type III with apolipoprotein E phenotype 2/2].
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.
D001057:Apolipoproteins E / Q000097:blood / Q000235:genetics*; D002784:Cholesterol / Q000097:blood; D008076:Cholesterol, HDL / Q000097:blood; D002914:Chylomicrons / Q000097:blood; D006801:Humans; D006952:Hyperlipoproteinemia Type III / Q000097:blood / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011341:Probucol / Q000627:therapeutic use; D014280:Triglycerides / Q000097:blood; D014527:Uric Acid / Q000097:blood; D014973:Xanthomatosis / Q000097:blood / Q000188:drug therapy / Q000235:genetics*
D001057:Apolipoproteins E; D008076:Cholesterol, HDL; D002914:Chylomicrons; D014280:Triglycerides; D014527:Uric Acid; D002784:Cholesterol; D011341:Probucol
Hyperlipoproteinämie Typ III mit Apolipoprotein E-Phänotyp 2/2.