In the normal population, the usual effect of the epsilon 2 allele is
to decrease plasma cholesterol and to increase plasma triglyceride, We
report here the association of nephrotic syndrome and the apo epsilon
2 epsilon 2 genotype in which we observed a hyperlipidemia characteri
zed by very low levels of lipoprotein lipase activity, chylomicronemia
, high levels of plasma apo B, C III, E and lipoprotein(a), very low l
evels of high density lipoprotein cholesterol and concentrations of ch
olesterol and triglyceride that are higher than expected in all the ot
her lipoprotein fractions. When proteinuria was partially resolved and
plasma albumin levels returned to normal, a residual type III hyperli
pidemia was still present. These findings suggest that the combination
of apo epsilon 2 homozygosity and massive proteinuria may cause consi
derable changes in the clearance of triglyceride rich particles probab
ly mediated by the almost complete absence of lipolytic enzymes and a
low interaction of lipoproteins with specific receptors. The apo E gen
otype should be investigated in nephrotic patients with chylomicronemi
a.