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[Remnant disease associated with apoprotein E1; clinical importance of apoprotein E (apo E) phenotypes]
I Borghini1, R W James, D Pometta
1Division de diabétologie, Hôpital cantonal universitaire, Genève.
Abstract:
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.