ReviewJournal of biomedical science2016
The genetics and screening of familial hypercholesterolaemia.
Review in Journal of biomedical science, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 3 of them syntheses that pooled it.
What it found
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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
77 citing papers in PubMed, 3 syntheses or guidelines pooled it, 156 citations in OpenAlex.
- Lomitapide, a Microsomal Triglyceride Transfer Protein Inhibitor, in Homozygous Familial Hypercholesterolemia: A Systematic Review and Meta-Analysis of Efficacy and Safety.Cardiovascular drugs and therapy · 2026Pooled it
- Update of the Brazilian Guideline for Familial Hypercholesterolemia - 2021.Arquivos brasileiros de cardiologia · 2021Guideline
- Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis.BMJ open · 2017Pooled it
- Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individuals.Journal of human genetics · 2018Trial
- 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
- Prevalence, Clinical Characteristics, and Therapeutic Underachievement in Familial Hypercholesterolemia: Results from the GRegistry-FH Population-Based Study in Greece.Journal of clinical medicine · 2026Article
- Effectiveness of a School Physician-Led Counseling Intervention on Cholesterol Levels and Lifestyle Behaviors in Children with Hypercholesterolemia: A Randomized Controlled Trial.Children (Basel, Switzerland) · 2026Article
- Improving the clinical diagnosis of familial hypercholesterolemia among patients attending diabetes and cardiology clinics.American journal of preventive cardiology · 2026Article
- Familial Hypercholesterolemia in Ethiopia Using the Dutch Lipid Clinical Network Score: A Report of 3 Cases.JCEM case reports · 2026Article
- First LDLRAP1 and Recurrent LDLR Mutations in Tunisian Families With Familial Hypercholesterolemia.Journal of cellular and molecular medicine · 2026Article
- Current Status and Clinical Characteristics of Familial Hypercholesterolemia Patients in Korea: A Multicenter, Real-World Experience.Diagnostics (Basel, Switzerland) · 2025Article
- Genetic atlas of plasma metabolome across 40 human common diseases: mapping causal metabolites to disease risk.Genome medicine · 2025Article
- Efficacy and safety of tafolecimab in Chinese patients with familial hypercholesterolemia: a systematic review and meta-analysis of randomized controlled trials.Annals of medicine and surgery (2012) · 2025Article
- Identification of genetic biomarkers of blood cholesterol levels using whole gene pathogenicity modelling.Mammalian genome : official journal of the International Mammalian Genome Society · 2025Article
- Does Genotype Affect the Efficacy of PCSK9 Inhibitors in the Treatment of Familial Hypercholesterolemia?Cardiovascular drugs and therapy · 2025Review
- Lipids dysregulation in diseases: core concepts, targets and treatment strategies.Lipids in health and disease · 2025Review
- Article
- Risk Factors and Modifiers for Cardiovascular Disease Assessment of Patients with Heterozygous Familial Hypercholesterolaemia.Journal of clinical medicine · 2024Article
- Current RNA strategies in treating cardiovascular diseases.Molecular therapy : the journal of the American Society of Gene Therapy · 2024Review
- Prevalence, clinical features and prognosis of familial hypercholesterolemia in Chinese Han patients with acute coronary syndrome after a coronary event: a retrospective observational study.BMC cardiovascular disorders · 2024Observational
17 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
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial Hypercholesterolaemia is an autosomal, dominant genetic disorder that leads to elevated blood cholesterol and a dramatically increased risk of atherosclerosis. It is perceived as a rare condition. However it affects 1 in 250 of the population globally, making it an important public health concern. In communities with founder effects, higher disease prevalences are observed.We discuss the genetic basis of familial hypercholesterolaemia, examining the distribution of variants known to be associated with the condition across the exons of the genes LDLR, ApoB, PCSK9 and LDLRAP1. We also discuss screening programmes for familial hypercholesterolaemia and their cost-effectiveness. Diagnosis typically occurs using one of the Dutch Lipid Clinic Network (DCLN), Simon Broome Register (SBR) or Make Early Diagnosis to Prevent Early Death (MEDPED) criteria, each of which requires a different set of patient data. New cases can be identified by screening the family members of an index case that has been identified as a result of referral to a lipid clinic in a process called cascade screening. Alternatively, universal screening may be used whereby a population is systematically screened.It is currently significantly more cost effective to identify familial hypercholesterolaemia cases through cascade screening than universal screening. However, the cost of sequencing patient DNA has fallen dramatically in recent years and if the rate of progress continues, this may change.
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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.