ArticleThe Clinical biochemist. Reviews2004
Familial hypercholesterolaemia.
Article in The Clinical biochemist. Reviews, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 2 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
52 citing papers in PubMed, 2 syntheses or guidelines pooled it, 52 citations in OpenAlex.
- Familial hypercholesterolemia - treatment update in children, systematic review.Pediatric endocrinology, diabetes, and metabolism · 2022Pooled it
- Dietary interventions (plant sterols, stanols, omega-3 fatty acids, soy protein and dietary fibers) for familial hypercholesterolaemia.The Cochrane database of systematic reviews · 2014Pooled it
- Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants in Patient Lymphocytes to Assess the Effect of Evinacumab in Homozygous Familial Hypercholesterolemia Patients With a Spectrum of LDLR Activity.Arteriosclerosis, thrombosis, and vascular biology · 2019Trial
- Efficacy and Safety of Lomitapide in Japanese Patients with Homozygous Familial Hypercholesterolemia.Journal of atherosclerosis and thrombosis · 2017Trial
- Trial
- RNA-sequencing based gene variants observed in patients with hyperlipidemia and premature coronary heart disease: A preliminary study.Biochemistry and biophysics reports · 2026Article
- Enhancing Familial Hypercholesterolemia Detection in South Korea: A Targeted Screening Approach Integrating National Program and Genetic Cascade Screening.Korean circulation journal · 2024Article
- Novel LDLR variants affecting low density lipoprotein metabolism identified in familial hypercholesterolemia.Molecular biology reports · 2024Article
- Novel Tools for Comprehensive Functional Analysis of LDLR (Low-Density Lipoprotein Receptor) Variants.International journal of molecular sciences · 2023Article
- Post-Traumatic Stress Disorder Is Associated with Elevated Plasma Cholesterol in Female TT Homozygotes ofInternational journal of molecular sciences · 2023Article
- Lipoproteins act as vehicles for lipid antigen delivery and activation of invariant natural killer T cells.JCI insight · 2023Article
- Genetic and molecular architecture of familial hypercholesterolemia.Journal of internal medicine · 2023Review
- Cardiac Mitochondria Dysfunction in Dyslipidemic Mice.International journal of molecular sciences · 2022Article
- Lipoprotein Assessment in the twenty-first Century.Endocrinology and metabolism clinics of North America · 2022Review
- Clinical Aspects of Genetic and Non-Genetic Cardiovascular Risk Factors in Familial Hypercholesterolemia.Genes · 2022Review
- The Role of Cumulative LDL Cholesterol in Cardiovascular Disease Development in Patients with Familial Hypercholesterolemia.Journal of personalized medicine · 2022Article
- Regulatory Non-Coding RNAs in Familial Hypercholesterolemia, Theranostic Applications.Frontiers in cell and developmental biology · 2022Review
- A case report of successful complex percutaneous coronary intervention for acute coronary syndrome in a paediatric patient with familial hypercholesterolaemia.European heart journal. Case reports · 2021Article
- Article
- Xanthomas heralding pediatric coronary artery disease.JAAD case reports · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolaemia (FH), defined as the heritable occurrence of severe hypercholesterolaemia with cholesterol deposits in tendons and premature heart disease, is caused by at least four genes in sterol and lipoprotein pathways and displays varying gene-dose effects. The genes are the low-density lipoprotein (LDL) receptor, apolipoprotein (apo) B, proprotein convertase subtilisin/kexin 9, and the autosomal recessive hypercholesterolaemia (ARH) adaptor protein. All of these disorders have in common defective clearance of LDL within a complex system of lipid and lipoprotein metabolism and regulation. Normal cellular cholesterol and lipoprotein metabolism is reviewed before describing the disorders, their metabolic derangements and their clinical effects. FH is classified as two simplified phenotypes of disease according to the severity of the metabolic derangement. The dominantly inherited heterozygous phenotype comprises defects in the LDL receptor, apoB100, and neural apoptosis regulatory cleavage protein. The homozygous phenotype is co-dominant in defects of the LDL receptor, and occurs also as the ARH of adapter protein mutations. Defective binding of apoB100 does not result in a significant gene dose effect, but enhances the severity of heterozygotes for LDL receptor mutations. The genetic diagnosis of FH has provided greater accuracy in definition and detection of disease and exposes information about migration of populations. All of these disorders pose a high risk of atherosclerosis, especially in the homozygous phenotype. Studies of influences on the phenotype and responses to treatment are also discussed in the context of the metabolic derangements.
Identifiers
18516203PMC1853359W4301946180What OpenQuestion holds
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.