Mutations causative of familial hypercholesterolaemia: screening of 98 098 individuals from the Copenhagen General Population Study estimated a prevalence of 1 in 217.

No abstract is available for this paper.

• Publication year

  2016

• Venue

  European Heart Journal

• Publication date

  2016-05-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1093/eurheartj/ehw028PMID 26908947
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales.

  2015cited by this paper
• Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction

  2015cited by this paper
• Prevalence and treatment of familial hypercholesterolaemia in Australian communities.

  2015cited by this paper
• Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation

  2015cited by this paper
• Improving identification of familial hypercholesterolaemia in primary care: derivation and validation of the familial hypercholesterolaemia case ascertainment tool (FAMCAT).

  2015cited by this paper
• Canadian Cardiovascular Society position statement on familial hypercholesterolemia.

  2014influential reference
• Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society

  2014cited by this paper
• Integrated guidance on the care of familial hypercholesterolaemia from the International FH Foundation.

  2014cited by this paper
• Multiple rare alleles at LDLR and APOA5 confer risk for early-onset myocardial infarction

  2014cited by this paper
• Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease

  2013cited by this paper
• Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants.

  2012cited by this paper
• Discriminative Ability of LDL-Cholesterol to Identify Patients With Familial Hypercholesterolemia: A Cross-Sectional Study in 26 406 Individuals Tested for Genetic FH

  2012cited by this paper
• Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication.

  2012cited by this paper
• Familial hypercholesterolaemia: a model of care for Australasia.

  2011cited by this paper
• The risk of tendon xanthomas in familial hypercholesterolaemia is influenced by variation in genes of the reverse cholesterol transport pathway and the low-density lipoprotein oxidation pathway.

  2010cited by this paper
• Harmonizing the metabolic syndrome: a joint interim statement of the International Diabetes Federation Task Force on Epidemiology and Prevention; National Heart, Lung, and Blood Institute; American Heart Association; World Heart Federation; International Atherosclerosis Society; and International As

  2009cited by this paper
• Genetically elevated C-reactive protein and ischemic vascular disease

  2009cited by this paper
• Child–parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis

  2008cited by this paper
• Comparison of genetic versus clinical diagnosis in familial hypercholesterolemia.

  2008cited by this paper
• Genetically elevated C-reactive protein and ischemic vascular disease.

  2008cited by this paper
• Child-parent screening for familial hypercholesterolaemia: screening strategy based on a meta-analysis

  2007cited by this paper
• Nonfasting triglycerides and risk of myocardial infarction, ischemic heart disease, and death in men and women.

  2007cited by this paper
• Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk

  2006cited by this paper
• The relationship of molecular genetic to clinical diagnosis of familial hypercholesterolemia in a Danish population.

  2005cited by this paper
• HUMAN GENOME EPIDEMIOLOGY (HuGE) REVIEWS Genetic Causes of Monogenic Heterozygous Familial Hypercholesterolemia: A HuGE Prevalence Review

  2004cited by this paper
• Familial hypercholesterolemia and coronary heart disease: a HuGE association review.

  2004cited by this paper
• Phenotype of Heterozygotes for Low-Density Lipoprotein Receptor Mutations Identified in Different Background Populations

  2004cited by this paper
• Comparison of the efficacy and safety of rosuvastatin versus atorvastatin, simvastatin, and pravastatin across doses (STELLAR* Trial).

  2003influential reference
• 2003 World Health Organization (WHO)/International Society of Hypertension (ISH) statement on management of hypertension

  2003cited by this paper
• The molecular basis of familial hypercholesterolemia in The Netherlands

  2001cited by this paper
• A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom

  2001cited by this paper
• Spectrum of LDL receptor gene mutations in Denmark: implications for molecular diagnostic strategy in heterozygous familial hypercholesterolemia.

  1999cited by this paper
• Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease.

  1998cited by this paper
• Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics.

  1993influential reference
• Familial defective apolipoprotein B-100: a mutation of apolipoprotein B that causes hypercholesterolemia.

  1990cited by this paper
• Coronary Artery Disease in 116 Kindred with Familial Type II Hyperlipoproteinemia

  1974cited by this paper
• RISKS OF ISCHÆMIC HEART-DISEASE IN FAMILIAL HYPERLIPOPROTEINÆMIC STATES

  1969cited by this paper
• Risks of ischaemic heart-disease in familial hyperlipoproteinaemic states.

  1969cited by this paper

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  2026cites this paper
• Automated Prediction of Heart Disease based on EMR data using Deep Learning Algorithm: A Review and Evaluation Study for various Feature Extraction Techniques

  2026cites this paper
• Positive Predictive Values of Familial Hypercholesterolemia Diagnoses in the Danish National Patient Registry and the Danish Familial Hypercholesterolemia Registry - A Validation Study.

  2026cites this paper
• Ages at coronary heart disease and death in familial hypercholesterolaemia: a Danish nationwide study spanning 44 years.

  2025cites this paper
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• Polygenic risk score for coronary artery disease predicts atherosclerotic cardiovascular disease in familial hypercholesterolemia.

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• Clinical familial hypercholesterolemia - factors influencing diagnosis and cardiovascular risk in the general population.

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• Lipoprotein-Specific Fatty Acid Profiles in Familial Hypercholesterolemia: Associations with Cardiovascular History and Dietary Patterns

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• School-Based Universal Screening for Hypercholesterolemia in Children with Short-Term Follow-Up.

  2025cites this paper
• Wheels within wheels: Diagnostic and risk modifiers for familial hypercholesterolemia in the community.

  2025cites this paper
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  2025cites this paper
• A Multisystemic Presentation of Familial Hypercholesterolaemia: A Case Report

  2025cites this paper
• Clinical familial hypercholesterolemia, heart healthy dietary adherence, and cardiovascular risk.

  2025cites this paper
• Pathogenicity analysis and functional prediction of a rare LDLR variant in familial hypercholesterolemia combined with Wilson disease

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  2025cites this paper
• Recent advances in research and care of familial hypercholesterolaemia.

  2025cites this paper
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  2024cites this paper
• Consensus document on diagnosis and management of familial hypercholesterolemia from the Italian Society for the Study of Atherosclerosis (SISA).

  2024cites this paper
• Advances in familial hypercholesterolemia.

  2024cites this paper
• Prevalence and management of familial hypercholesterolaemia in patients with chest pain admitted to hospital: a retrospective observational study

  2024cites this paper
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• Clinical and genetic diagnosis of familial hypercholesterolaemia in patients undergoing coronary angiography: the Ludwigshafen Risk and Cardiovascular Health Study.

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• Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis.

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• Familial hypercholesterolaemia and emerging therapeutics

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  2023cites this paper
• Research Progress in the Clinical Treatment of Familial Hypercholesterolemia.

  2023cites this paper
• Advances and Challenges for GWAS Analysis in Cardiac Diseases: A Focus on Coronary Artery Disease (CAD).

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• Polygenic Background Modifies Risk of Coronary Artery Disease Among Individuals With Heterozygous Familial Hypercholesterolemia

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• Clinical decision support for familial hypercholesterolemia (CDS-FH): Rationale and design of a cluster randomized trial in primary care.

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