ReviewAnnals of pediatric endocrinology & metabolism2016
Sitosterolemia: a review and update of pathophysiology, clinical spectrum, diagnosis, and management.
Review in Annals of pediatric endocrinology & metabolism, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 1 of them a synthesis that pooled it.
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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
68 citing papers in PubMed, 1 synthesis or guideline pooled it, 149 citations in OpenAlex.
- Genome-wide association study and meta-analysis of phytosterols identifies a novel locus for serum levels of campesterol.Human genomics · 2024Pooled it
- Sitosterolemia presenting as unexplained cytopenias: hematologic manifestations and genetic spectrum.Blood research · 2026Article
- Sitosterolemia misdiagnosed as homozygous familial hypercholesterolemia: A diagnostic challenge.American journal of preventive cardiology · 2026Article
- Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis.Molecular genetics & genomic medicine · 2026Review
- The Spectrum of Genetic Causes of Familial Hypercholesterolemia Phenotype.Current atherosclerosis reports · 2026Review
- Phytosterols in human health: Biochemical mechanisms of action and disease-modulating effects.World journal of biological chemistry · 2026Review
- Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.Journal of medical case reports · 2026Article
- NovelHuman mutation · 2026Article
- Sitosterolemia Due to a New Combination ofJCEM case reports · 2025Article
- Genome sequencing identifies uniparental isodisomy of chromosome 2p and a homozygousBiomedical reports · 2025Article
- Factors Affecting Circulating Phytosterol Levels: Toward an Integrated Understanding of Atherogenicity and Atheroprotection by Dietary and Circulating Phytosterols.Current atherosclerosis reports · 2025Review
- Digenic Overlap Syndrome Masquerading as Homozygous Familial Hypercholesterolemia.JACC. Case reports · 2025Article
- Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report.Archives of endocrinology and metabolism · 2025Article
- Clinical Management of Dyslipidemia in Infants and Toddlers.Current atherosclerosis reports · 2025Review
- Sitosterolemia-An Underdiagnosed and Heterogeneous Lipid Disorder. A Case Series From a Tertiary Care Centre in Australia.Journal of paediatrics and child health · 2025Article
- [Clinical characteristics and treatment outcomes of adult patients with phytosterolemia presenting with Thrombocytopenia].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2025Article
- Clinical, genetic characteristics and long-term follow-up of sitosterolemia in children.Translational pediatrics · 2025Article
- Phenotypes, Genotypes, Treatment, and Outcomes of 14 Children with Sitosterolemia at Vietnam National Children's Hospital.Journal of clinical medicine · 2025Article
- From Xanthomas to Genetic Diagnosis: A Case Report of Sitosterolemia in an Infant with a Homozygous ABCG5 c.1166G>A (p.Arg389His) Variant.Clinical, cosmetic and investigational dermatology · 2025Article
- Compound heterozygous variants in the ABCG5 gene in a Korean boy with sitosterolemia.Annals of pediatric endocrinology & metabolism · 2024Article
8 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sitosterolemia is an autosomal recessive disorder characterized by increased plant sterol levels, xanthomas, and accelerated atherosclerosis. Although it was originally reported in patients with normolipemic xanthomas, severe hypercholesterolemia have been reported in patients with sitosterolemia, especially in children. Sitosterolemia is caused by increased intestinal absorption and decreased biliary excretion of sterols resulting from biallelic mutations in either ABCG5 or ABCG8, which encode the sterol efflux transporter ABCG5 and ABCG8. Patients with sitosterolemia show extreme phenotypic heterogeneity, ranging from almost asymptomatic individuals to those with severe hypercholesterolemia leading to accelerated atherosclerosis and premature cardiac death. Hematologic manifestations include hemolytic anemia with stomatocytosis, macrothrombocytopenia, splenomegaly, and abnormal bleeding. The mainstay of therapy includes dietary restriction of both cholesterol and plant sterols and the sterol absorption inhibitor, ezetimibe. Foods rich in plant sterols include vegetable oils, wheat germs, nuts, seeds, avocado, shortening, margarine and chocolate. Hypercholesterolemia in patients with sitosterolemia is dramatically responsive to low cholesterol diet and bile acid sequestrants. Plant sterol assay should be performed in patients with normocholesterolemic xanthomas, hypercholesterolemia with unexpectedly good response to dietary modifications or to cholesterol absorption inhibitors, or hypercholesterolemia with poor response to statins, or those with unexplained hemolytic anemia and macrothrombocytopenia. Because prognosis can be improved by proper management, it is important to find these patients out and diagnose correctly. This review article aimed to summarize recent publications on sitosterolemia, and to suggest clinical indications for plant sterol assay.
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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.