Lipoprotein glomerulopathy resulting from compound heterogeneous mutations of APOE gene: A case report
Open accessAbstract
Rationale: Lipoprotein glomerulopathy (LPG) is a rare glomerular disease characterized by the deposition of lipoprotein thrombi in glomerular capillaries. The disease is characterized by proteinuria, progressive renal failure, and characteristic lipoprotein thrombosis in glomerular capillaries. Rare mutations in the apolipoprotein E (APOE) gene mainly contribute to disease pathogenesis. Patient concerns: A 28-year-old man presented with severe proteinuria and hyperlipidemia. The patient was treated with a full dose of prednisone for 2 months and then combined with leflunomide 20 mg daily for 20 days; however, his edema continued to worsen. Diagnosis: The patient was diagnosed LPG by laboratory examination and renal biopsy. Interventions: The patient was treated with atorvastatin (20 mg) combined with irbesartan (75 mg) once a day. Outcomes: The patient's lipidaemia and proteinuria were significantly reduced. Genetic testing showed that the patient carried compound heterozygous mutations in APOE. The APOE gene was inherited from her mother and father. Parents with a heterogeneous mutation had normal kidney function without proteinuria. Lessons: Usually, a single mutation in APOE can lead to the pathogenesis of LPG. This case shows that LPG could result from compound heterogeneous mutations of the APOE gene inherited from his mother and father. Intensive lipid-lowering combined with RASIs is effective in patients with LPG. Early renal biopsy and genetic mutation detection can avoid the unnecessary use of glucocorticoids and immunosuppressants.
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Only lipid-lowering therapy has been verified efficiently to reduce proteinuria in LPG.
“Only lipid-lowering therapy has been verified efficiently to reduce proteinuria.13,14”
From The First Case of Lipoprotein Glomerulopathy in a Patient With Male Infertility (2026) · cites this paper as [14]
The Clinical course reports a significant reduction in proteinuria after six weeks of treatment, but the patient received both atorvastatin and irbesartan. The Discussion also lists other treatments that have improved outcomes in LPG. This case therefore does not establish that lipid-lowering therapy alone reduced proteinuria, or that it is the only effective therapy. (LLM, conf=0.86)
Experimental — accuracy not yet measuredAPOE Kyoto was also reported as a compound heterozygote of p.Arg50His (Arg32His) and APOE Hong Kong (Asp230Tyr), while APOE Chicago was also reported as a compound heterozygote of APOE5 (Glu3Lys).
“APOE Kyoto was also reported as a compound heterozygote of p.Arg50His (Arg32His)88) and APOE Hong Kong (Asp230Tyr)89), while APOE Chicago was also reported as a compound heterozygote of APOE5 (Glu3Lys)90).”
From Impact of Apolipoprotein E Variants: A Review of Naturally Occurring Variants and Clinical Features (2025) · cites this paper as [88]
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Cites
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An Updated Review and Meta Analysis of Lipoprotein Glomerulopathy
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The First Case of Lipoprotein Glomerulopathy in a Patient With Male Infertility
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Early-onset lipoprotein glomerulopathy in a 23-month-old boy with homozygous APOE Kyoto variant
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- Authors
- Li, Y., Chen, J., Zou, Y., Wang, W., & Li, G.
- Affiliations
- University of Electronic Science and Technology of China (CN)
- Corresponding author
- Li, Yunsi
- Chen, Jin
- Li, Guisen
- ORCID
- Li, Yunsi
- Venue
- Medicine
- Published
- 2022-02-04
- Volume
- 101
- Issue
- 5
- Pages
- e28718
- ISSN
- 0025-7974 (ISSN-L)
- 1536-5964
- PMC
- PMC8812603
- OpenAlex
- W4210334274
- Cited by
- 5
- References
- 21
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 1 · 2022: 1
- FWCI
- 0.48
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Medicine (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Funders
- Key Research and Development Program of Sichuan Province (2019YFS0538)
- National Natural Science Foundation of China (82070690)
- Topics
- Health Sciences › Medicine › Nephrology › Renal Diseases and Glomerulopathies
- Health Sciences › Medicine › Nephrology › Chronic Kidney Disease and Diabetes
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Lipid metabolism and disorders
- Keywords
- lipoprotein glomerulopathy, apolipoprotein E, APOE gene, compound heterozygosity, proteinuria, hyperlipidemia, atorvastatin, irbesartan, renin-angiotensin system inhibitors, lipid-lowering therapy, renal biopsy, genetic testing
- MeSH terms
- Adult, Apolipoproteins E, Humans, Kidney Diseases, Male, Mutation, Proteinuria
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