TY - JOUR
T1 - Lipoprotein glomerulopathy associated with a mutation in apolipoprotein E
AU - Magistroni, Riccardo
AU - Bertolotti, Marco
AU - Furci, Luciana
AU - Fano, Rita Adriana
AU - Leonelli, Marco
AU - Pisciotta, Livia
AU - Pellegrini, Elisa
AU - Calabresi, Laura
AU - Bertolini, Stefano
AU - Calandra, Sebastiano
PY - 2013/12/5
Y1 - 2013/12/5
N2 - 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.
AB - 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.
KW - APOE gene mutation
KW - Glomerular lipid thrombi
KW - Kidney
KW - Lipoprotein glomerulopathy
KW - Mixed hyperlipidemia
KW - Proteinuria
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UR - http://www.scopus.com/inward/citedby.url?scp=84889640856&partnerID=8YFLogxK
U2 - 10.4137/CCRep.S12209
DO - 10.4137/CCRep.S12209
M3 - Article
AN - SCOPUS:84889640856
VL - 6
SP - 189
EP - 196
JO - Clinical Medicine Insights: Case Reports
JF - Clinical Medicine Insights: Case Reports
SN - 1179-5476
ER -