ReviewCurrent atherosclerosis reports2015
Familial hypercholesterolemia--epidemiology, diagnosis, and screening.
Review in Current atherosclerosis reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 72 papers, 5 of them syntheses that pooled it.
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
72 citing papers in PubMed, 5 syntheses or guidelines pooled it, 197 citations in OpenAlex.
- Efficacy of Proprotein Convertase Subtilisin/Kexin Type 9 Inhibitors in Patients with Heterozygous Familial Hypercholesterolemia: A Meta-analysis.American journal of cardiovascular drugs : drugs, devices, and other interventions · 2025Pooled it
- Cost-Effectiveness of Screening Strategies for Familial Hypercholesterolaemia: An Updated Systematic Review.PharmacoEconomics · 2024Pooled it
- The promising novel therapies for familial hypercholesterolemia.Journal of clinical laboratory analysis · 2022Pooled it
- A Systematic Review and Meta-Analysis of Therapeutic Efficacy and Safety of Alirocumab and Evolocumab on Familial Hypercholesterolemia.BioMed research international · 2021 · on this mapPooled it
- The panorama of familial hypercholesterolemia in Latin America: a systematic review.Journal of lipid research · 2016Pooled it
- The mediating effect of attitudes toward genetic testing on the relationship between genetic knowledge of familial hypercholesterolemia and the intention to undergo genetic testing among patients with hyperlipidemia in Korea: a cross-sectional study.Journal of Korean biological nursing science · 2026Article
- Molecular and Genetic Aspects of Lipid Metabolism Disorders and Potential Targets for Gene Therapy.Journal of lipid and atherosclerosis · 2026Review
- Non-HDL Cholesterol and Residual Cardiometabolic Risk in Middle Eastern Patients with Atherosclerotic Cardiovascular Disease.Healthcare (Basel, Switzerland) · 2026Article
- Lipoprotein-Specific Fatty Acid Profiles in Familial Hypercholesterolemia: Associations with Cardiovascular History and Dietary Patterns.Nutrients · 2025Article
- The observation of retinal microvascular alterations in familial hypercholesterolemia patients through optical coherence tomography angiography.International ophthalmology · 2025Article
- Research advances in current drugs targeting hyperlipidemia (Review).Molecular medicine reports · 2025Review
- uAUG-creating variant in the LDLR gene causes mild Familial hypercholesterolemia.Human genetics · 2025Article
- Correlation between clinical classification and genetic analysis of familial hypercholesterolemia in premature coronary artery disease in a cohort of Egyptian patients.Human genomics · 2025Article
- Does Genotype Affect the Efficacy of PCSK9 Inhibitors in the Treatment of Familial Hypercholesterolemia?Cardiovascular drugs and therapy · 2025Review
- Whole exome sequencing identifies concurrentFrontiers in genetics · 2025Article
- Effects of Familial Hypercholesterolemia on Major Adverse Cardiac and Cerebrovascular Events in Patients with Premature Coronary Artery Disease: A Retrospective Cohort Study.Research in heart yield and translational medicine · 2025Article
- Coronary artery bypass grafting in a 14-year-old boy with compound heterozygous LDLR familial hypercholesterolemia: a case report.Frontiers in pediatrics · 2025Article
- Dyslipidemia in Infants: Challenges in Diagnosis and Management.La Tunisie medicale · 2024Article
- Effect of diet and genotype on the lipidome of mice with altered lipoprotein metabolism.iScience · 2024Article
- The Impact of Convertase Subtilisin/Kexin Type 9 Monoclonal Antibodies with and without Apheresis on Platelet Aggregation in Familial Hypercholesterolemia.Cardiovascular drugs and therapy · 2024Article
12 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia is among the commonest inherited metabolic disorders and is characterized by severely elevated LDL cholesterol levels. Mutations in four genes have been noted in patients with familial hypercholesterolemia (FH): LDL receptor (most common), apolipoprotein B (Apo B), proprotein convertase subtilin/kexin 9 (PCSK9), and low-density lipoprotein receptor adaptor protein (LDLRAP). In most cases, inheritance is autosomal co-dominant with homozygotes having double the LDL cholesterol levels of heterozygotes. Autosomal recessive inheritance is rare. The prevalence of the heterozygous state has been estimated at 1 in 200 to 1 in 500 and of the homozygous state from 1 in 160,000 to 1 in 1,000, 000. Three formal diagnostic criteria have been proposed to diagnose FH in practice-MedPed, Simon Broome, and Dutch Lipid Clinic Network. The role of genetic testing and cascade screening among families is discussed in this review.
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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.