ReviewJournal of the Endocrine Society2021
Management of Familial Hypercholesterolemia: Current Status and Future Perspectives.
Review in Journal of the Endocrine Society, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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.
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Who cites it
23 citing papers in PubMed, 51 citations in OpenAlex.
- Critical Limb Ischaemia in a Patient With Subcutaneous Nodules: Clues to a Hidden Systemic Disease.Cureus · 2025Article
- Persistent Ectopy Unmasking Coronary Artery Disease and Familial Hypercholesterolemia in a 32-Year-Old Woman.JACC. Case reports · 2025Article
- Assessment of CoQ10 Dietary Intake in a Mediterranean Cohort of Familial Hypercholesterolemia Patients: A Pilot Study.Nutrients · 2025Article
- Role of Next-Generation Sequencing in Diagnosis of Familial Hypercholesterolemia in Serbia.Diagnostics (Basel, Switzerland) · 2025Article
- Review
- Small RNA or oligonucleotide drugs and challenges in evaluating drug-drug interactions.Frontiers in pharmacology · 2025Review
- Quality of life and its contributors among patients with homozygous familial hypercholesterolemia in China.Frontiers in public health · 2025Article
- Review
- Current status and trends in small nucleic acid drug development: Leading the future.Acta pharmaceutica Sinica. B · 2024Review
- Algorithm for detection and screening of familial hypercholesterolemia in Lithuanian population.Lipids in health and disease · 2024Article
- Serum metabolites and hypercholesterolemia: insights from a two-sample Mendelian randomization study.Frontiers in cardiovascular medicine · 2024Article
- Targeting the Liver with Nucleic Acid Therapeutics for the Treatment of Systemic Diseases of Liver Origin.Pharmacological reviews · 2023Review
- Genetic Testing for Familial Hypercholesterolemia in a Pediatric Group: A Romanian Showcase.Diagnostics (Basel, Switzerland) · 2023Article
- Familial Hypercholesterolemia: Where Do We Stand?ARYA atherosclerosis · 2023Article
- Prevalence of familial hypercholesterolemia in patients with confirmed premature coronary artery disease in Ranchi, Jharkhand.The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology · 2022Article
- There is urgent need to treat atherosclerotic cardiovascular disease risk earlier, more intensively, and with greater precision: A review of current practice and recommendations for improved effectiveness.American journal of preventive cardiology · 2022Review
- HDL Cholesterol Efflux and Serum Cholesterol Loading Capacity Alterations Associate to Macrophage Cholesterol Accumulation in FH Patients with Achilles Tendon Xanthoma.International journal of molecular sciences · 2022Article
- Hypercholesterolemia Diagnosis, Treatment Patterns, and 12-Month Target Achievement in Clinical Practice in Germany in Patients with Familial Hypercholesterolemia.Journal of clinical medicine · 2022Article
- Adverse Drug Reactions and Toxicity of the Food and Drug Administration-Approved Antisense Oligonucleotide Drugs.Drug metabolism and disposition: the biological fate of chemicals · 2022Review
- Improving Familial Hypercholesterolemia Diagnosis Using an EMR-based Hybrid Diagnostic Model.The Journal of clinical endocrinology and metabolism · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is the most common monogenic disorder associated with premature atherosclerotic cardiovascular disease. Early diagnosis and effective treatment can significantly improve prognosis. Recent advances in the field of lipid metabolism have shed light on the molecular defects in FH and new therapeutic options have emerged. A search of PubMed database up to March 2020 was performed for this review using the following keywords: "familial hypercholesterolemia," "diagnosis," "management," "guideline," "consensus," "genetics," "screening," "lipid lowering agents." The prevalence rate of heterozygous FH is approximately 1 in 200 to 250 and FH is underdiagnosed and undertreated in many parts of the world. Diagnostic criteria have been developed to aid the clinical diagnosis of FH. Genetic testing is now available but not widely used. Cascade screening is recommended to identify affected family members, and the benefits of early interventions are clear. Treatment strategy and target is currently based on low-density lipoprotein (LDL) cholesterol levels as the prognosis of FH largely depends on the magnitude of LDL cholesterol-lowering that can be achieved by lipid-lowering therapies. Statins with or without ezetimibe are the mainstay of treatment and are cost-effective. Addition of newer medications like PCSK9 inhibitors is able to further lower LDL cholesterol levels substantially, but the cost is high. Lipoprotein apheresis is indicated in homozygous FH or severe heterozygous FH patients with inadequate response to cholesterol-lowering therapies. In conclusion, FH is a common, treatable genetic disorder, and although our understanding of this disease has improved, many challenges still remain for its optimal management.
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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.