ReviewCurrent atherosclerosis reports2014
Sitosterolemia: diagnosis, investigation, and management.
Review in Current atherosclerosis reports, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 2 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
52 citing papers in PubMed, 2 syntheses or guidelines pooled it, 120 citations in OpenAlex.
- Global scientific trends in hypercholesterolemia research from 2003 to 2023: a data-driven bibliometric and visual analysis.Frontiers in cardiovascular medicine · 2025Pooled it
- Genome-wide association study and meta-analysis of phytosterols identifies a novel locus for serum levels of campesterol.Human genomics · 2024Pooled it
- Efficacy of yogurt drink with added plant stanol esters (Benecol®, Colanta) in reducing total and LDL cholesterol in subjects with moderate hypercholesterolemia: a randomized placebo-controlled crossover trial NCT01461798.Lipids in health and disease · 2014Trial
- Sitosterolemia presenting as unexplained cytopenias: hematologic manifestations and genetic spectrum.Blood research · 2026Article
- Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis.Molecular genetics & genomic medicine · 2026Review
- Review
- ATP-binding Cassette Transporter Defects and Their Roles in Hepatic Diseases.Journal of clinical and translational hepatology · 2026Review
- NovelHuman mutation · 2026Article
- Factors Affecting Circulating Phytosterol Levels: Toward an Integrated Understanding of Atherogenicity and Atheroprotection by Dietary and Circulating Phytosterols.Current atherosclerosis reports · 2025Review
- Identifying inherited metabolic disorders in children: the role of elevated creatine kinase.BMC pediatrics · 2025Article
- Whole exome sequencing identifies concurrentFrontiers in genetics · 2025Article
- Cerebral involvement in sitosterolemia.Lipids in health and disease · 2024Article
- Two Cases of Sitosterolemia Falsely Diagnosed as Familial Hypercholesterolemia: Could Digging Deeper Have Avoided Harm?JCEM case reports · 2024Article
- Gene variants and clinical characteristics of children with sitosterolemia.Lipids in health and disease · 2024Article
- The roles of nuclear receptors in cholesterol metabolism and reverse cholesterol transport in nonalcoholic fatty liver disease.Hepatology communications · 2024Review
- Putative Pathogenic Variants ofJournal of lipid and atherosclerosis · 2024Article
- Implication of Oxysterols and Phytosterols in Aging and Human Diseases.Advances in experimental medicine and biology · 2024Review
- Chromogranin A and its derived peptides: potential regulators of cholesterol homeostasis.Cellular and molecular life sciences : CMLS · 2023Review
- Update on Sitosterolemia and Atherosclerosis.Current atherosclerosis reports · 2023Review
- Phytosterols and Cardiovascular Risk Evaluated against the Background of Phytosterolemia Cases-A German Expert Panel Statement.Nutrients · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sitosterolemia is a rare autosomal recessively inherited disease caused by mutations affecting ABCG5 or ABCG8, which are located on human chromosome band 2p21. Around 100 cases have been reported in the literature. Sitosterolemic patients typically exhibit a 30-fold to 100-fold increase in plasma concentrations of plant sterols. The clinical manifestations include xanthomas, premature atherosclerosis, hemolytic anemia, and macrothrombocytopenia. It is noteworthy that abnormal hematological parameters may be the only clinical feature of sitosterolemic patients, suggesting that sitosterolemia may be more frequent than previously thought. Severe accumulation of plant sterols in mouse models of sitosterolemia induced complex cardiac lesions, anemia, and macrothrombocytopenia, disrupted adrenal and liver cholesterol homeostasis, and caused infertility and hypertriglyceridemia. It remains unclear whether all disease traits are present in sitosterolemic patients. The drug ezetimibe appears to be effective in reducing plasma plant sterol levels, promotes xanthoma regression, and improves the cardiovascular and hematological signs in sitosterolemic patients.
Indexed as
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What OpenQuestion holds
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.