ReviewJournal of atherosclerosis and thrombosis2021
Homozygous Familial Hypercholesterolemia.
Review in Journal of atherosclerosis and thrombosis, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 59 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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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
59 citing papers in PubMed, 106 citations in OpenAlex.
- Evinacumab in homozygous familial hypercholesterolaemia: long-term safety and efficacy.European heart journal · 2024Trial
- Exercise in Patients with Subclinical Atherosclerosis: Mechanisms, Clinical Evidence, and Practical Recommendations.Current atherosclerosis reports · 2026Review
- Comparison of Clinical Characterization and Therapeutic Strategies between Homozygous Familial Hypercholesterolemia and Heterozygous Familial Hypercholesterolemia.Journal of atherosclerosis and thrombosis · 2026Article
- Sex Differences in the Diagnosis and Treatment of Japanese Patients With Familial Hypercholesterolemia: A Retrospective Cohort Study.Journal of lipid and atherosclerosis · 2026Article
- Article
- Therapeutic Plasma Exchange and Evinacumab for Homozygous Familial Hypercholesterolemia.JACC. Case reports · 2026Article
- Prevalence of Carotid Atherosclerotic Plaques and Stenosis in Adults with Familial Hypercholesterolemia Needs Reappraisal: Systematic Review and Meta-Analysis.Journal of clinical medicine · 2025Review
- Diagnostic and Therapeutic Challenges of Homozygous and Severe Heterozygous Familial Hypercholesterolemia from Clinical Aspect-A Single-Center Study.Journal of clinical medicine · 2025Article
- Sustaining the Promise of PCSK9 Inhibitors: Lessons from Real-World Adherence in China.Journal of atherosclerosis and thrombosis · 2025Article
- Lomitapide response in a cohort of patients with homozygous familial hypercholesterolemia and the potential influence of MTTP gene variants.Orphanet journal of rare diseases · 2025Article
- Oligogenic Familial Hypercholesterolemia Treated by Combination Therapy of Statin, Ezetimibe, PCSK9 Inhibitor, and Lomitapide.Internal medicine (Tokyo, Japan) · 2025Article
- Article
- Triple Assessments of Atherosclerosis in Patients With Heterozygous Familial Hypercholesterolemia.JACC. Asia · 2025Article
- Cholesteryl Ester Transfer Protein Deficiency and Hyperalphalipoproteinemia.Journal of atherosclerosis and thrombosis · 2025Review
- Impact of Genetic Testing and Sex Differences among Patients with Familial Hypercholesterolemia: The Hokuriku-plus Familial Hypercholesterolemia Registry Study.Journal of atherosclerosis and thrombosis · 2025Observational
- Does Genotype Affect the Efficacy of PCSK9 Inhibitors in the Treatment of Familial Hypercholesterolemia?Cardiovascular drugs and therapy · 2025Review
- Efficacy and outcomes of inclisiran in the management of homozygous and heterozygous familial hypercholesterolemia: a systematic review and meta-analysis.Annals of medicine and surgery (2012) · 2025Article
- Corneal Arcus, Xanthomas, and Finger Deformities in a Young Woman With Homozygous Familial Hypercholesterolemia.Case reports in medicine · 2025Article
- Case Report: Beating the assumed prognosis: homozygous familial hypercholesterolemia with unexpected long survival.Frontiers in cardiovascular medicine · 2025Article
- Quality of life and its contributors among patients with homozygous familial hypercholesterolemia in China.Frontiers in public health · 2025Article
Corrections and comments
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Authors and funding
14 authors at 12 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia (FH) is an inherited disorder with retarded clearance of plasma LDL caused by mutations of the genes involved in the LDL receptor-mediated pathway and most of them exhibit autosomal dominant inheritance. Homozygotes of FH (HoFH) may have plasma LDL-C levels, which are at least twice as high as those of heterozygous FH (HeFH) and therefore four times higher than normal levels. Prevalence of HoFH had been estimated as 1 in 1,000,000 before but more recent genetic analysis surveys predict 1 in 170,000 to 300,000. Since LDL receptor activity is severely impaired, HoFH patients do not or very poorly respond to medications to enhance activity, such as statins, and have a poorer prognosis compared to HeFH. HoFH should therefore be clinically distinguished from HeFH. Thorough family studies and genetic analysis are recommended for their accurate diagnosis.Fatal cardiovascular complications could develop even in the first decade of life for HoFH, so aggressive lipid-lowering therapy should be initiated as early as possible. Direct removal of plasma LDL by lipoprotein apheresis has been the principal measure for these patients. However, this treatment alone may not achieve stable LDL-C target levels and combination with drugs should be considered. The lipid-lowering effects of statins and PCSK9 inhibitors substantially vary depending on the remaining LDL receptor activity of individual patients. On the other hand, the action an MTP inhibitor is independent of LDL receptor activity, and it is effective in most HoFH cases.This review summarizes the key clinical issues of HoFH as well as insurance coverage available under the Japanese public healthcare system.
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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.