Lipoprotein glomerulopathy associated with a mutation in apolipoprotein E

Riccardo Magistroni, Marco Bertolotti, Luciana Furci, Rita Adriana Fano, Marco Leonelli, Livia Pisciotta, Elisa Pellegrini, Laura Calabresi, Stefano Bertolini, Sebastiano Calandra

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)189-196
Number of pages8
JournalClinical Medicine Insights: Case Reports
Volume6
DOIs
Publication statusPublished - Dec 5 2013

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Keywords

  • APOE gene mutation
  • Glomerular lipid thrombi
  • Kidney
  • Lipoprotein glomerulopathy
  • Mixed hyperlipidemia
  • Proteinuria

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Magistroni, R., Bertolotti, M., Furci, L., Fano, R. A., Leonelli, M., Pisciotta, L., Pellegrini, E., Calabresi, L., Bertolini, S., & Calandra, S. (2013). Lipoprotein glomerulopathy associated with a mutation in apolipoprotein E. Clinical Medicine Insights: Case Reports, 6, 189-196. https://doi.org/10.4137/CCRep.S12209