ReviewNature reviews. Cardiology2019
The complex molecular genetics of familial hypercholesterolaemia.
Review in Nature reviews. Cardiology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 129 papers, 4 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
129 citing papers in PubMed, 4 syntheses or guidelines pooled it, 288 citations in OpenAlex.
- Pooled it
- Alliaceae versus Brassicaceae for Dyslipidemia: State of the Art and Future Perspectives. Systematic Review and Meta-Analysis of Clinical Studies.Phytotherapy research : PTR · 2024Pooled it
- The promising novel therapies for familial hypercholesterolemia.Journal of clinical laboratory analysis · 2022Pooled it
- Efficacy and Safety of Lomitapide in Homozygous Familial Hypercholesterolaemia: A Systematic Review.Reviews in cardiovascular medicine · 2022Pooled it
- Impact of a whole food, plant-based diet on LDL-cholesterol and cardiovascular risk factors in adults with heterozygous familial hypercholesterolemia: a randomized, two-period, two-treatment, crossover, fully controlled feeding trial.Nature communications · 2026Trial
- Long-term efficacy and safety of lerodalcibep in heterozygous familial hypercholesterolaemia: the LIBerate-HeFH trial.European heart journal · 2023Trial
- Severe Multivessel Coronary Artery Disease in an Adolescent With Genetic Dyslipidemia.JACC. Case reports · 2026Article
- Article
- A New Option for the Management of Dyslipidemias: Advances in Research on the Small Interfering RNA Drug Inclisiran.Reviews in cardiovascular medicine · 2026Review
- From Phenotype to Genotype and Beyond: Insights into Familial Hypercholesterolemia and Familial Hypertriglyceridemia.Medicina (Kaunas, Lithuania) · 2026Review
- A Genome-First Study of Familial Hypercholesterolemia Comparing African and European Ancestry Individuals.Circulation · 2026Article
- Association of epicardial adipose tissue thickness and left ventricular functions in children with primary dyslipidemia.European journal of pediatrics · 2026Article
- High-capacity adenoviral vector-mediated expression of an LDLR/transferrin chimeric protein in muscle reduces atherosclerosis in LdlrMolecular therapy : the journal of the American Society of Gene Therapy · 2026Article
- Biochemical characterisation of familial hypercholesterolemia: Associations between genetic and lipid profiles.Journal of medical biochemistry · 2026Article
- 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
- First LDLRAP1 and Recurrent LDLR Mutations in Tunisian Families With Familial Hypercholesterolemia.Journal of cellular and molecular medicine · 2026Article
- Functional analysis from ex-vivo characterization of LDLR exon 13-15 duplication associated to familial hypercholesterolemia.Frontiers in endocrinology · 2026Article
- What Should a Clinical Cardiologist Know About Cardiogenetics?Journal of the American Heart Association · 2025Review
- Brazilian Guideline on Dyslipidemias and Prevention of Atherosclerosis - 2025.Arquivos brasileiros de cardiologia · 2025Article
- Life Course Approach to Familial Hypercholesterolemia.Current cardiology reports · 2025Review
69 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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolaemia is the most commonly encountered genetic condition that predisposes individuals to premature cardiovascular disease. Nevertheless, most patients are undiagnosed, and treatment is often suboptimal even when the diagnosis seems certain. Advances in molecular technologies are reshaping our understanding of this condition, including revision upwards of the population prevalence. Furthermore, the underlying pathophysiological complexity has been exposed by the range of causative genetic loci, breadth of types and classes of rare disease-causing variants, and polygenic basis of the phenotype in many patients. Genetic testing is not always helpful or definitive. Familial hypercholesterolaemia can be envisioned as a group of related disorders, of which the classic 'textbook' phenotype is a subset. Features such as clinical stigmata, family history of dyslipidaemia or cardiovascular disease, and presence of a rare pathogenic variant all increase diagnostic certainty. However, even in the absence of these elements, the essential feature remains an elevated level of plasma LDL cholesterol, which alone should prompt a dialogue between the care provider and the patient on lifestyle modification and lipid-lowering therapy as the foundation of a long-term strategy to prevent or delay the onset of cardiovascular disease.
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Registered trials
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.