ReviewCurrent atherosclerosis reports2015
Genetics of familial hypercholesterolemia.
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 37 papers, 2 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
37 citing papers in PubMed, 2 syntheses or guidelines pooled it, 94 citations in OpenAlex.
- Update of the Brazilian Guideline for Familial Hypercholesterolemia - 2021.Arquivos brasileiros de cardiologia · 2021Guideline
- Efficacy and Safety of Mipomersen: A Systematic Review and Meta-Analysis of Randomized Clinical Trials.Drugs · 2019Pooled it
- Postprandial changes in gene expression of cholesterol influx and efflux mediators after intake of SFA compared withJournal of nutritional science · 2019Trial
- Non-Responder to Inclisiran and Evolocumab-A Female Patient with Heterozygous Familial Hypercholesterolemia and Statin Intolerance.Diseases (Basel, Switzerland) · 2026Article
- Pathogenicity analysis and functional prediction of a rare LDLR variant in familial hypercholesterolemia combined with Wilson disease.Genes & genomics · 2026Article
- Case report of familial hypercholesterolemia with internal carotid neck swelling.Journal of family medicine and primary care · 2025Article
- Hypercholesterolemia and inflammation-Cooperative cardiovascular risk factors.European journal of clinical investigation · 2025Review
- Improved Genetic Characterization of Hypercholesterolemia in Latvian Patients with Familial Hypercholesterolemia: A Combined Monogenic and Polygenic Approach Using Whole-Genome Sequencing.International journal of molecular sciences · 2024Article
- Highlights of Cardiovascular Disease Prevention Studies Presented at the 2023 American Heart Association Scientific Sessions.Current atherosclerosis reports · 2024Review
- Unveiling Familial Hypercholesterolemia-Review, Cardiovascular Complications, Lipid-Lowering Treatment and Its Efficacy.International journal of molecular sciences · 2024Review
- Causal relationships of familial hypercholesterolemia with the risk of multiple vitamin deficiencies: a Mendelian randomization study.Frontiers in endocrinology · 2024Article
- Genetic and molecular architecture of familial hypercholesterolemia.Journal of internal medicine · 2023Review
- Monoclonal Antibodies, Gene Silencing and Gene Editing (CRISPR) Therapies for the Treatment of Hyperlipidemia-The Future Is Here.Pharmaceutics · 2023Review
- Site-specific genome editing in treatment of inherited diseases: possibility, progress, and perspectives.Medical review (2021) · 2022Review
- Machine Learning Methods for Hypercholesterolemia Long-Term Risk Prediction.Sensors (Basel, Switzerland) · 2022Article
- Lumping versus splitting: How to approach defining a disease to enable accurate genomic curation.Cell genomics · 2022Article
- Individualized Treatment for Patients With Familial Hypercholesterolemia.Journal of lipid and atherosclerosis · 2022Review
- Lipid-Lowering Biotechnological Drugs: from Monoclonal Antibodies to Antisense Therapies-a Clinical Perspective.Cardiovascular drugs and therapy · 2021Review
- Analysis of Rare Variants in Genes Related to Lipid Metabolism in Patients with Familial Hypercholesterolemia in Western Siberia (Russia).Journal of personalized medicine · 2021Article
- Mutational Spectrum ofFrontiers in genetics · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein (LDL) cholesterol and premature cardiovascular disease, with a prevalence of approximately 1 in 200-500 for heterozygotes in North America and Europe. Monogenic FH is largely attributed to mutations in the LDLR, APOB, and PCSK9 genes. Differential diagnosis is critical to distinguish FH from conditions with phenotypically similar presentations to ensure appropriate therapeutic management and genetic counseling. Accurate diagnosis requires careful phenotyping based on clinical and biochemical presentation, validated by genetic testing. Recent investigations to discover additional genetic loci associated with extreme hypercholesterolemia using known FH families and population studies have met with limited success. Here, we provide a brief overview of the genetic determinants, differential diagnosis, genetic testing, and counseling of FH genetics.
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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.