ArticleCardiology and therapy2015
Familial Hypercholesterolemia: a Review of the Natural History, Diagnosis, and Management.
Article in Cardiology and therapy, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 3 of them syntheses that pooled it.
What it found
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Who cites it
28 citing papers in PubMed, 3 syntheses or guidelines pooled it, 77 citations in OpenAlex.
- Association Between Familial Hypercholesterolemia and Risk of Cardiovascular Events and Death in Different Cohorts: A Meta-Analysis of 1.1 Million Subjects.Frontiers in cardiovascular medicine · 2022Pooled it
- Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis.BMJ open · 2017Pooled it
- The panorama of familial hypercholesterolemia in Latin America: a systematic review.Journal of lipid research · 2016Pooled it
- Parallel screening strategies reveal distinct phenotypic and genotypic profiles of familial hypercholesterolemia in children and adults.Atherosclerosis plus · 2026Article
- Clinical and genetic characterization of homozygousEuropean heart journal. Case reports · 2026Article
- Isfahan familial hypercholesterolemia cohort (IFHC) study: Methods, insights and early results.ARYA atherosclerosis · 2026Article
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- Association between the weight-adjusted-waist index and Familial hypercholesterolemia: a cross-sectional study.BMC cardiovascular disorders · 2024Article
- The Importance of Genetic Testing for Familial Hypercholesterolemia: A Pediatric Pilot Study.Medicina (Kaunas, Lithuania) · 2024Article
- Reducing Premature Coronary Artery Disease in Malaysia by Early Identification of Familial Hypercholesterolemia Using the Familial Hypercholesterolemia Case Ascertainment Tool (FAMCAT): Protocol for a Mixed Methods Evaluation Study.JMIR research protocols · 2023Article
- Genetic and molecular architecture of familial hypercholesterolemia.Journal of internal medicine · 2023Review
- The Association of Thyroid-Stimulating Hormone (TSH) Levels and Lipid Profile in Euthyroid Patients with Familial Hypercholesterolemia.BioMed research international · 2023Article
- Lowering low-density lipoprotein cholesterol: from mechanisms to therapies.Life metabolism · 2022Review
- Performance comparison of different classification algorithms applied to the diagnosis of familial hypercholesterolemia in paediatric subjects.Scientific reports · 2022Observational
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- The Role of Registers in Increasing Knowledge and Improving Management of Children and Adolescents Affected by Familial Hypercholesterolemia: the LIPIGEN Pediatric Group.Frontiers in genetics · 2022Article
- Validity and reliability of an adapted questionnaire measuring knowledge, awareness and practice regarding familial hypercholesterolaemia among primary care physicians in Malaysia.BMC cardiovascular disorders · 2021Article
- Apolipoprotein B gene mutation related to familial hypercholesterolemia in an Iranian population: With or without hypothyroidism.Journal of research in medical sciences : the official journal of Isfahan University of Medical Sciences · 2021Article
- MicroRNAs: New Therapeutic Targets for Familial Hypercholesterolemia?Clinical reviews in allergy & immunology · 2018Review
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is an inherited disorder of lipid metabolism characterized by premature cardiovascular disease. It is one of the most common metabolic disorders affecting humans. There are two clinical manifestations: the milder heterozygous form and more severe homozygous form. Despite posing a significant health risk, FH is inadequately diagnosed and managed. As the clinical outcome is related to the degree and duration of exposure to elevated low-density lipoprotein cholesterol (LDL-C) levels, early treatment is vital. Diagnosis can usually be made using a combination of clinical characteristics such as family history, lipid levels, and genetic testing. Mutations in the gene encoding the LDL receptor (LDLR), apolipoprotein B, the pro-protein convertase subtilisin/kexin 9 (PCSK9), and LDLR adaptor protein are the commonest abnormalities. Early identification and treatment of patients, as well as screening of relatives, helps significantly reduce the risk of premature disease. Although statins remain the first-line therapy in most cases, monotherapy is usually inadequate to control elevated LDL-C levels. Additional therapy with ezetimibe and bile acid sequestrants may be required. Newer classes of pharmacotherapy currently under investigation include lomitapide, mipomersen, and monoclonal antibodies to PCSK9. Lipoprotein apheresis may be required when multiple pharmacotherapies are inadequate, especially in the homozygous form. Effective early detection and treatment of the index individual and initiation of cascade screening will help reduce the complications associated with FH. In this article, we review the disease of FH, complexity of diagnosis and management, and the challenges faced in preventing the significant morbidity and mortality associated with it.
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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.