ArticleThe application of clinical genetics2010
The genetic basis of familial hypercholesterolemia: inheritance, linkage, and mutations.
Article in The application of clinical genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 74 citations in OpenAlex.
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- PCSK9 and Lipid Metabolism: Genetic Variants, Current Therapies, and Cardiovascular Outcomes.Cardiovascular drugs and therapy · 2025Review
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- Prevalence of very high cholesterol levels in asymptomatic military recruits: A single center study.Saudi medical journal · 2025Article
- Endothelial lipase facilitates low-density lipoprotein (LDL) uptake in LDL receptor deficiency by a heparan sulfate proteoglycan-dependent mechanism.bioRxiv : the preprint server for biology · 2025Article
- Pathogenic LDLR Variants (c.103 C>T and c.2416dup) in ligand-binding and cytosolic domains in Saudi familial hypercholesterolemia: Molecular characterization and computational insights.Computational and structural biotechnology journal · 2025Article
- Whole exome sequencing identifies concurrentFrontiers in genetics · 2025Article
- Olfactory Receptors and Aortic Aneurysm: Review of Disease Pathways.Journal of clinical medicine · 2024Review
- Targeted NGS Revealed Pathogenic Mutation in a 13-Year-Old Patient with Homozygous Familial Hypercholesterolemia: A Case Report.International journal of molecular sciences · 2024Article
- Interaction Between Primary Hyperlipidemias and Type 2 Diabetes: Therapeutic Implications.Diabetes therapy : research, treatment and education of diabetes and related disorders · 2024Review
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- Proprotein Convertase Subtilisin/Kexin 9 as a Modifier of Lipid Metabolism in Atherosclerosis.Biomedicines · 2023Review
- An update on lipid apheresis for familial hypercholesterolemia.Pediatric nephrology (Berlin, Germany) · 2023Review
- Familial Hypercholesterolemia and Its Current Diagnostics and Treatment Possibilities: A Literature Analysis.Medicina (Kaunas, Lithuania) · 2022Review
- The future of individualized cardiovascular care: how wearables could be integrated to improve outcomes.European heart journal supplements : journal of the European Society of Cardiology · 2022Article
- Familial Hypercholesterolaemia as a Predisposing Factor for Atherosclerosis.Biomedicines · 2022Review
- Whole-exome sequencing reveals a comprehensive germline mutation landscape and identifies twelve novel predisposition genes in Chinese prostate cancer patients.PLoS genetics · 2022Article
- Statins in Pregnancy: Can We Justify Early Treatment of Reproductive Aged Women?Current atherosclerosis reports · 2022Review
- Long-term cancer risk in heterozygous familial hypercholesterolemia relatives: a 25-year cohort study.Lipids in health and disease · 2022Article
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is a genetic disorder of lipoprotein metabolism characterized by high plasma concentrations of low-density lipoprotein cholesterol (LDLc), tendon xanthomas, and increased risk of premature coronary heart disease. FH is one of the most common inherited disorders; there are 10,000,000 people with FH worldwide, mainly heterozygotes. The most common FH cause is mutations along the entire gene that encode for LDL receptor (LDLR) protein, but it has been also described that mutations in apolipoprotein B (APOB) and proprotein convertase subtilisin/kexin type 9 genes produce this phenotype. About 17%-33% of patients with a clinical diagnosis of monogenic hypercholesterolemia do not harbor any genetic cause in the known loci. Because FH has been considered as a public health problem, it is very important for an early diagnosis and treatment. Recent studies have demonstrated the influence of the LDLR mutation type in the FH phenotype, associating a more severe clinical phenotype and worse advanced carotid artherosclerosis in patients with null than those with receptor-defective mutations. Since 2004, a molecular FH diagnosis based on a genetic diagnostic platform (Lipochip(®); Progenika-Biopharma, Derio, Spain) has been developed. This analysis completes the adequate clinical diagnosis made by physicians. Our group has recently proposed new FH guidelines with the intention to facilitate the FH diagnosis. The treatment for this disease is based on the benefit of lowering LDLc and a healthy lifestyle. Actually, drug therapy is focused on using statins and combined therapy with ezetimibe and statins. This review highlights the recent progress made in genetics, diagnosis, and treatment for FH.
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