ArticleClinical case reports2024
Failure of lipid control by PCSK9 inhibitors in compound heterozygous familial hypercholesterolemia complicated with premature myocardial infarction: A case report.
Article in Clinical case reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 7 citations in OpenAlex.
- Molecular Mechanisms Underlying Atherosclerosis and Current Advances in Targeted Therapeutics.International journal of molecular sciences · 2026Review
- A de novo LDLR mutation in severe familial hypercholesterolemia: case report, functional characterization, and a personalized gene correction strategy exploration.Frontiers in cardiovascular medicine · 2026Article
- Genomic and Precision Medicine Approaches in Atherosclerotic Cardiovascular Disease: From Risk Prediction to Therapy-A Review.Biomedicines · 2025Review
- Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.Genes & genomics · 2025Article
- Familial hypercholesterolaemia with early-onset coronary artery disease and recurrent in-stent restenosis associated with the LDLR gene c.428G>A mutation: a case report.Frontiers in cardiovascular medicine · 2025Article
- PCSK9 inhibitor failure in a statin-intolerant FH patient with a novel LDLR variant: a case report.Frontiers in cardiovascular medicine · 2025Article
- Failure of lipid control by PCSK9 inhibitors in compound heterozygous familial hypercholesterolemia complicated with premature myocardial infarction: A case report.Clinical case reports · 2024Article
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Key Clinical Message: A certain level of low-density lipoprotein receptor activity is crucial for the efficacy of PCSK9i. Therapeutic strategies for familial hypercholesterolemia patients should consider drug efficacy, and genetic testing will be helpful. Abstract: Familial hypercholesterolemia (FH) is a serious autosomal dominant disorder. Managing blood lipids in FH patients poses greater challenges for clinicians. Drug therapy may not always yield satisfactory results, particularly in individuals with low-density lipoprotein receptor (LDLR) negative mutations. Herein, we report a young female harboring an LDLR frameshift mutation. This patient developed xanthomas at 7 months old and underwent several years of treatment involving four classes of lipid-lowering drugs, including PCSK9i. However, the response to drug therapy was limited in this patient and eventually culminated in premature myocardial infarction. The efficacy of PCSK9i depends on the activity of LDLR. The inefficacy of PCSK9i may arise from the extensive mutations which leading to loss of LDLR activity. Therapy plans for these patients should take into account the efficacy of drug therapy. Early genetic testing is crucial for clinicians to make informed decisions regarding therapy options.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.