Abstract: TH-PO0829
Amyloidosis Apolipoprotein CII (Apo CII): A Case Report of a Rare Subtype of Amyloidosis
Session Information
- Glomerular Case Reports: Potpourri
November 06, 2025 | Location: Exhibit Hall, Convention Center
Abstract Time: 10:00 AM - 12:00 PM
Category: Glomerular Diseases
- 1402 Glomerular Diseases: Clinical, Outcomes, and Therapeutics
Authors
- Lo Re, Claudia, Universita degli Studi di Messina, Messina, Sicily, Italy
- Hoffman, James E, University of Miami Miller School of Medicine, Miami, Florida, United States
- Addison, Vanessa Rosemary, University of Miami Miller School of Medicine, Miami, Florida, United States
- Fornoni, Alessia, University of Miami Miller School of Medicine, Miami, Florida, United States
Introduction
Amyloidosis is a group of rare diseases caused by the abnormal deposition of amyloid proteins in tissues and organs. So far, 42 amyloid precursor proteins have been identified. Recently it has been discovered a rare subtype of amyloidosis Apolipoprotein CII related.
Case Description
M. E. is a 51-year-old woman who presented with hypercholesterolemia, progressive CKD, and proteinuria. She has a documented family history of familial hypercholesterolemia. She was evaluated for gradual deterioration of renal function in October 2023 and was recommended to undergo a renal biopsy. The kidney biopsy done in January 2024 showed 33 glomeruli, of which 12 are globally sclerosed, with approximately 20% interstitial fibrosis. By light microscopy, there was predominantly glomerular involvement by acellular and amorphous material. This material was positive for Congo red stain. Electron microscopy confirmed the diagnosis of amyloidosis. Renal tissue mass spectrometry studies detected apolipoprotein CII type amyloidosis. Oil Red O staining revealed lipid droplets accumulation in affected glomeruli. The germline DNA sequencing performed on the peripheral blood revealed the p. Lys41Thr (c.122A→C) substitution in the protein.
Discussion
Apolipoprotein CII, the product of the APOC2 gene, is best known as a physiological activator of lipoprotein lipase (LPL). LPL is the enzyme that breaks down triglyceride-carrying particles, leading to a decrease in plasma triglyceride levels through its activity. It has been proposed that genetic alterations to APOC2 could alter the lipid-binding capabilities, resulting in amyloid fibril formation and lipid droplets deposition. To date, no disease-modifying therapies are available for this subtype of amyloidosis, and conventional treatments have proven ineffective or inapplicable. The patient is treated according to the recent guidelines KDIGO 2024 with ACEi, SGLT2, statin and ezetimibe, but we are exploring the possibility of a single-patient accelerated approval to perform experimental treatment with cyclodextrin (HPβCD), an agent that mediate lipid and cholesterol efflux from affected cells that we have proven to be effective in a variety of experimental glomerular diseases characterized by glomerular lipid accumulation.