title: Lipoprotein glomerulopathy associated with a mutation in apolipoprotein e.
abstract: Lipoprotein glomerulopathy is a pathological condition characterized by lipid accumulation in the glomerular capillaries that has been associated with the presence of rare mutants of apolipoprotein E (ApoE). We describe a 51-year-old Italian patient presenting Type III hyperlipidemia and proteinuria in whom renal biopsy showed capillary ectasia and intraluminal lipid deposits, suggesting the diagnosis of lipoprotein glomerulopathy. The patient, who had elevated plasma ApoE level, was found to be heterozygous for a mutation in ApoE (Arg150Cys), designated apoEMODENA. This mutation induces the formation of ApoE dimers that are detectable under non-reducing conditions. Treatment with hypolipidemic drugs did not result in a complete remission of the proteinuria and was accompanied by a slow but progressive worsening of renal function with the persistence of intracapillary lipid thrombi. The introduction of low-density lipoprotein aphaeresis combined with a more aggressive lipid lowering and antihypertensive therapy resulted in the remission of proteinuria and a substantial improvement of renal function. Switching from low-density lipoprotein aphaeresis to plasma filtration did not result in an equivalent control of renal damage. The patient died of intracranial hemorrhage during an acute episode of malignant hypertension.
authors.affiliation: Department of Surgical, Medical, Dental and Morphological Sciences with Transplant Interest, Oncological and Regenerative Medicine, University of Modena and Reggio Emilia.
authors.forename: Riccardo
authors.initials: R
authors.lastname: Magistroni
authors.affiliation: Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia.
authors.forename: Marco
authors.initials: M
authors.lastname: Bertolotti
authors.affiliation: Department of Surgical, Medical, Dental and Morphological Sciences with Transplant Interest, Oncological and Regenerative Medicine, University of Modena and Reggio Emilia.
authors.forename: Luciana
authors.initials: L
authors.lastname: Furci
authors.affiliation: Department of Surgical, Medical, Dental and Morphological Sciences with Transplant Interest, Oncological and Regenerative Medicine, University of Modena and Reggio Emilia.
authors.forename: Rita Adriana
authors.initials: RA
authors.lastname: Fano
authors.affiliation: Department of Surgical, Medical, Dental and Morphological Sciences with Transplant Interest, Oncological and Regenerative Medicine, University of Modena and Reggio Emilia.
authors.forename: Marco
authors.initials: M
authors.lastname: Leonelli
authors.affiliation: Department of Internal Medicine, University of Genova.
authors.forename: Livia
authors.initials: L
authors.lastname: Pisciotta
authors.affiliation: Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia.
authors.forename: Elisa
authors.initials: E
authors.lastname: Pellegrini
authors.affiliation: Department of Pharmacological and Biomolecular Sciences, University of Milano.
authors.forename: Laura
authors.initials: L
authors.lastname: Calabresi
authors.affiliation: Department of Internal Medicine, University of Genova.
authors.forename: Stefano
authors.initials: S
authors.lastname: Bertolini
authors.affiliation: Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia.
authors.forename: Sebastiano
authors.initials: S
authors.lastname: Calandra
keywords: APOE gene mutation; glomerular lipid thrombi; kidney; lipoprotein glomerulopathy; mixed hyperlipidemia; proteinuria