ArticlePLoS currents2011
Cascade Screening for Familial Hypercholesterolemia (FH).
Article in PLoS currents, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.
What it found
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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.
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Who cites it
27 citing papers in PubMed, 2 syntheses or guidelines pooled it, 84 citations in OpenAlex.
- 2018 AHA/ACC/AACVPR/AAPA/ABC/ACPM/ADA/AGS/APhA/ASPC/NLA/PCNA Guideline on the Management of Blood Cholesterol: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines.Circulation · 2019 · on this mapGuideline
- The panorama of familial hypercholesterolemia in Latin America: a systematic review.Journal of lipid research · 2016Pooled it
- Phenotypic heterogeneity and polygenic risk scores in a family of maturity-onset diabetes of the young.JCEM case reports · 2026Article
- Isfahan familial hypercholesterolemia cohort (IFHC) study: Methods, insights and early results.ARYA atherosclerosis · 2026Article
- Family cascade screening for equitable identification of familial hypercholesterolemia: study protocol for a hybrid effectiveness-implementation type III randomized controlled trial.Implementation science : IS · 2024Article
- Parental Attitudes and Ideas Regarding Newborn Screening for Familial Hypercholesterolemia.Maternal and child health journal · 2023Article
- Familial Hyperlipidemia Caused by Apolipoprotein B Mutation in the Pediatric Amish Population: A Mini Review.Interventional cardiology · 2023Article
- Speckle-Tracking Echocardiography for Detecting Subclinical Left Ventricular Dysfunction in Patients With Familial Hypercholesterolemia.Texas Heart Institute journal · 2021Article
- Homozygous Familial Hypercholesterolemia (HoFH) in Saudi Arabia and Two Cases of Lomitapide Use in a Real-World Setting.Advances in therapy · 2021Review
- Familial Hypercholesterolemia (FH) in Iran: Findings from the Four-Year FH Registry.Journal of lipids · 2021Article
- Article
- Cholesterol and Atherosclerotic Cardiovascular Disease: A Lifelong Problem.Journal of the American Heart Association · 2019Article
- Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.Lipids in health and disease · 2018Article
- Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol.JMIR research protocols · 2017Article
- An online questionnaire survey of UK general practitioners' knowledge and management of familial hypercholesterolaemia.BMJ open · 2016Article
- The genetics and screening of familial hypercholesterolaemia.Journal of biomedical science · 2016Review
- Exploring the complete mutational space of the LDL receptor LA5 domain using molecular dynamics: linking SNPs with disease phenotypes in familial hypercholesterolemia.Human molecular genetics · 2016Article
- Review
- Screening for cardiovascular disease risk factors beginning in childhood.Public health reviews · 2015Review
- [Diagnosis and treatment of familial hypercholesterolemia in Spain: consensus document].Atencion primaria · 2015Article
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 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by abnormally high concentrations of low-density lipoprotein (LDL) cholesterol in the blood, which predisposes affected persons to premature coronary heart disease (CHD) and death. FH is one of the most common inherited disorders and the most common one known to cause premature CHD in people of European descent. The vast majority of people with FH have inherited a single mutation from one parent in either the LDL receptor (LDLR), apolipoprotein B (APOB), or proprotein convertase subtilisin/kexin type 9 (PCSK9) genes. Despite their greatly elevated risk of coronary heart disease, most individuals with FH remain undiagnosed, untreated, or inadequately treated. Cascade screening is a mechanism for identifying people at risk for a genetic condition by a process of systematic family tracing. The National Institute for Health and Clinical Excellence in the United Kingdom recommends cascade screening of close biological relatives of people with a clinical diagnosis of FH in order to effectively identify additional FH patients. The ultimate goal of this testing is to reduce morbidity and mortality from heart disease in persons with FH through early diagnosis and effective disease management. The goal of this article is to outline the available evidence on the clinical validity and utility of cascade screening for FH, while emphasizing the availability, usefulness, and recommendation for including DNA testing (if the disease-causing mutation has been identified).
Identifiers
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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.