Fingerprints of lipoprotein glomerulopathy – An addition to the list of rare diseases in India

ABSTRACT: Lipoprotein glomerulopathy is a rare familial disease due to mutations in the apolipoprotein E gene. The characteristic histological finding is deposition of lipoprotein thrombi in the glomerular capillaries. We present two cases, aged 35 years, male and female, respectively, both of whom presented with nephrotic syndrome. Renal biopsy revealed glomeruli which appeared enlarged in size, with many of the glomerular capillaries filled with amorphous thrombi-like material that were lamellated, and vacuolated at a few places. These thrombi appeared PAS weak positive, MT pale blue, silver negative, and Congo-Red negative. These capillary luminal contents stained reddish with Oil-red O confirming lipid contents. Glomerular tufts were negative for all antisera on direct immunoflorescence. A final opinion of lipoprotein glomerulopathy was given, following which patients were worked up for dyslipidemia and were managed with fibrates. Our first case underwent renal transplant in 2019 and has shown recurrence of lipoprotein glomerulopathy in his recent post-transplant biopsy done in December 2024.