ReviewMedicina (Kaunas, Lithuania)2022
Familial Hypercholesterolemia and Its Current Diagnostics and Treatment Possibilities: A Literature Analysis.
Review in Medicina (Kaunas, Lithuania), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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.
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Who cites it
17 citing papers in PubMed, 35 citations in OpenAlex.
- Pharmacokinetic Drug-Drug Interaction between Cilostazol and Rosuvastatin in Healthy Participants.American journal of cardiovascular drugs : drugs, devices, and other interventions · 2025Trial
- Molecular and Genetic Aspects of Lipid Metabolism Disorders and Potential Targets for Gene Therapy.Journal of lipid and atherosclerosis · 2026Review
- Inclisiran in Dyslipidemia with High Residual Platelet Reactivity.Diseases (Basel, Switzerland) · 2026Review
- The IMPACT-FH Renewal Protocol: Evaluating FH Cascade Testing Implementation in Primary Care through a Pragmatic Trial, Economic Evaluation, and Mixed-Methods Sustainability Assessment.Public health genomics · 2026Article
- Coagulation in familial hypercholesterolemic patients: effect of current hypolipidemic treatment and anticoagulants.Naunyn-Schmiedeberg's archives of pharmacology · 2025Article
- Gene editing therapy as a therapeutic approach for cardiovascular diseases in animal models: A scoping review.PloS one · 2025Article
- Enhanced Hypercoagulability Using Clot Waveform Analysis in Patients with Acute Myocardial Infarction and Acute Cerebral Infarction.Journal of clinical medicine · 2024Article
- Targeted NGS Revealed Pathogenic Mutation in a 13-Year-Old Patient with Homozygous Familial Hypercholesterolemia: A Case Report.International journal of molecular sciences · 2024Article
- Early-onset familial hypercholesterolemia: A case of extensive xanthomas and premature coronary artery disease.Clinical case reports · 2024Article
- Article
- Evolving Concepts of the SCORE System: Subtracting Cholesterol from Risk Estimation: A Way for a Healthy Longevity?Life (Basel, Switzerland) · 2024Review
- Unveiling Familial Hypercholesterolemia-Review, Cardiovascular Complications, Lipid-Lowering Treatment and Its Efficacy.International journal of molecular sciences · 2024Review
- Cellular and functional evaluation of LDLR missense variants reported in hypercholesterolemic patients demonstrates their hypomorphic impacts on trafficking and LDL internalization.Frontiers in cell and developmental biology · 2024Article
- Familial Hypercholesterolemia: A Literature Review of the Pathophysiology and Current and Novel Treatments.Cureus · 2023Review
- Reporting LDL cholesterol results by clinical biochemistry laboratories in Czechia and Slovakia to improve the detection rate of familial hypercholesterolemia.Biochemia medica · 2023Article
- Genetic Testing for Familial Hypercholesterolemia in a Pediatric Group: A Romanian Showcase.Diagnostics (Basel, Switzerland) · 2023Article
- Inclisiran-Safety and Effectiveness of Small Interfering RNA in Inhibition of PCSK-9.Pharmaceutics · 2023Review
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is a common, inherited disorder of cholesterol metabolism. This pathology is usually an autosomal dominant disorder and is caused by inherited mutations in the APOB, LDLR, and PCSK9 genes. Patients can have a homozygous or a heterozygous genotype, which determines the severity of the disease and the onset age of cardiovascular disease (CVD) manifestations. The incidence of heterozygous FH is 1: 200-250, whereas that of homozygous FH is 1: 100.000-160.000. Unfortunately, FH is often diagnosed too late and after the occurrence of a major coronary event. FH may be suspected in patients with elevated blood low-density lipoprotein cholesterol (LDL-C) levels. Moreover, there are other criteria that help to diagnose FH. For instance, the Dutch Lipid Clinical Criteria are a helpful diagnostic tool that is used to diagnose FH. FH often leads to the development of early cardiovascular disease and increases the risk of sudden cardiac death. Therefore, early diagnosis and treatment of this disease is very important. Statins, ezetimibe, bile acid sequestrants, niacin, PCSK9 inhibitors (evolocumab and alirocumab), small-interfering-RNA-based therapeutics (inclisiran), lomitapide, mipomersen, and LDL apheresis are several of the available treatment possibilities that lower LDL-C levels. It is important to say that the timeous lowering of LDL-C levels can reduce the risk of cardiovascular events and mortality in patients with FH. Therefore, it is essential to increase awareness of FH in order to reduce the burden of acute coronary syndrome (ACS).
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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 Socratic graph.