title: Homozygous familial hypercholesterolemia occurring with apoprotein E3 deficiency. Report of two cases.
abstract: This is the first report of homozygous familial hypercholesterolemia (FH) occurring together with dysbetalipoproteinemia. The former was demonstrated by deficiency of specific receptors for apoprotein B of low density lipoproteins and the latter by isoelectric focusing of the E isoapoproteins and the presence of a broad-beta band on electrophoresis. Two young boys of Lebanese extraction had extensive tuberous and tendinous xanthomata, serum cholesterol concentrations of 29.9 and 28.4 mmol/liter, respectively, and mildly raised serum triglycerides due to an accumulation of lipoprotein remnant particles. Homozygosity for FH was demonstrated in both boys by the deficiency of specific binding of low density lipoprotein to cultured skin fibroblasts (less than 15% and less than 10% of normal, respectively). The E apoprotein phenotypes showed E3/E2 in one boy and E2/E2 in the other. The treatment of both boys with cholestyramine and probucol reduced the serum cholesterol concentration to between 15 and 18 mmol/liter and dramatically lessened the severity of xanthomatosis.
mesh_terms: D053318:Apolipoprotein E3; D001053:Apolipoproteins / Q000097:blood / Q000172:deficiency*; D001057:Apolipoproteins E; D002648:Child; D002675:Child, Preschool; D002792:Cholestyramine Resin / Q000627:therapeutic use; D004359:Drug Therapy, Combination; D006720:Homozygote; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000097:blood / Q000150:complications* / Q000235:genetics; D006952:Hyperlipoproteinemia Type III / Q000097:blood / Q000150:complications* / Q000235:genetics; D008074:Lipoproteins / Q000097:blood; D008297:Male; D010375:Pedigree; D011341:Probucol / Q000627:therapeutic use
chemical_list: D053318:Apolipoprotein E3; D001053:Apolipoproteins; D001057:Apolipoproteins E; D008074:Lipoproteins; D002792:Cholestyramine Resin; D011341:Probucol