ArticleJACC. Case reports2025
Apparent Nonresponse to PCSK9 Inhibition in a Patient With Heterozygous Familial Hypercholesterolemia Due to PCSK9 Gene Duplication.
Article in JACC. Case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
1 citing paper in PubMed.
- Pharmacogenomics of Atherosclerotic Plaque: Pathophysiological Background and Therapeutic Perspectives.Current atherosclerosis reports · 2026Review
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Authors and funding
3 authors.
Funding
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Abstract
backgroundHeterozygous familial hypercholesterolemia is a genetic disorder characterized by persistently elevated low-density lipoprotein (LDL-C) levels and increased cardiovascular risk. Management includes statins as well as nonstatin lipid-lowering agents, such as ezetimibe, bempedoic acid, and inhibitors of proprotein convertase subtilisin/kexin type 9 (PCSK9). Although PCSK9 inhibition is a potent mechanism to reduce levels of LDL-C, a small percentage of patients respond poorly for reasons that are not fully understood. CASE SUMMARY: A 52-year-old woman presented with persistently elevated LDL-C and a history of atherosclerotic cardiovascular disease. Her LDL-C levels remained elevated despite high-intensity statin therapy and ezetimibe. She was treated with various inhibitors of PCSK9 but displayed little or no reduction in LDL-C levels. Genetic testing identified a duplication of the PCSK9 gene. Treatment with a higher dose of evolocumab (420 mg every 2 weeks) led to a more pronounced reduction in LDL-C levels. DISCUSSION: This case identifies PCSK9 gene duplication as a potential mechanism underlying nonresponse to PCSK9 inhibition and suggests that higher dosing of PCSK9 inhibitors may overcome nonresponse in some patients.
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