[Remnant disease associated with apoprotein E1; clinical importance of apoprotein E (apo E) phenotypes].
The diagnosis of type III hyperlipoproteinemia, or remnant disease, is greatly facilitated by the determination of the apoprotein E (apo E) phenotype. The disease is associated, in over 90% of the documented cases, with homozygosity for the E2 isoform of apo E. Phenotyping apo E directly from plasma offers certain advantages as compared to phenotyping from very low density lipoprotein samples. Elaboration of such a procedure in our laboratory allowed us to detect a rare isoform of apo E, apo E1, which was associated with remnant disease in 3 patients.
Borghini
I
I
Division de diabétologie, Hôpital cantonal universitaire, Genève.
James
R W
RW
Pometta
D
D
D000328:Adult; D001057:Apolipoproteins E / Q000097:blood* / Q000235:genetics; D006720:Homozygote; D006801:Humans; D006952:Hyperlipoproteinemia Type III / Q000097:blood* / Q000235:genetics; D007525:Isoelectric Focusing; D008079:Lipoproteins, VLDL / Q000097:blood; D008297:Male; D008875:Middle Aged; D010641:Phenotype
D001057:Apolipoproteins E; D008079:Lipoproteins, VLDL; C040661:apolipoprotein E1
"Maladie des remnants" ("Remnants disease") associée à l'apoprotéine E1; importance clinique des phénotypes de l'aproprotéine E (apo E).