Lipoprotein glomerulopathy-like disease in a patient with type III hyperlipoproteinemia due to apolipoprotein E2 (Arg158 Cys)/3 heterozygosity

Abstract

A 77-year-old woman developed nephrotic syndrome associated with type III hyperlipoproteinemia (III HLP) and increased apolipoprotein E (apo E). Apo E analysis disclosed E2/E3 heterozygosity in phenotypic and genotypic expressions, without any other mutations. A renal biopsy showed intraluminal and subendothelial thrombus-like deposits in the dilated capillary loops of the glomerulus that stained positive for lipids and apo E. Electron microscopy revealed tiny granular particles in the capillary lumina, as well as between the glomerular basement membrane and the endothelial cells. It was therefore concluded that III HLP associated with apo E2/E3 heterozygosity could induce lipoprotein glomerulopathy-like disease and nephrotic syndrome.

A Novel Apolipoprotein E Mutation, ApoE Osaka (Arg158 Pro), in a Dyslipidemic Patient with Lipoprotein Glomerulopathy

“…2A) and an electron micrograph of the current case clearly showed a layered structure of thrombus-like deposits (Fig. 2B), implying that LPG-like nephropathy can be ruled out for this case 17) . Furthermore, the current case is different from "type hyperlipoproteinemia-related nephropathy" showing foam cells and glomerulosclerosis 18,19) .…”

“…On the other hand, apoE2 is generally not associated with LPG but is reported to be related to "LPG-like nephropathy", which is different from LPG in some properties 16,17) . In LPG-like nephropathy associated with apoE2 homozygosity, mesangial foam cells are marked but lamellar formation is not observed even in large deposits or lipoprotein thrombi 16) .…”

Apolipoprotein E–related glomerular disorders

“…Indeed, 2 papers reported the relationship between heterozygous apoE2 and characteristic findings, as follows. One case 23 with apoE2/3 was associated with marked non-immune subendothelial EDDs. The other case 24 had the combination of heterozygous apoE2 and apoE Tokyo/Maebashi 25,26 isoforms and showed infiltration of foamy macrophages in addition to lipoprotein thrombi.…”

An Updated Review and Meta Analysis of Lipoprotein Glomerulopathy

“…A small clinical contrast study based on 35 patients supported the efficacy of fibrates in LPG. After 12 months of treatment, their lipid profiles, proteinuria, and serum albumin improved, and their serum apoE decreased significantly with stable renal function (7,14,93,121,122).…”