ReviewLipids in health and disease2022
Features of chinese patients with sitosterolemia.
Review in Lipids in health and disease, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 21 citations in OpenAlex.
- Phenotypic and Genotypic Landscape of Sitosterolemia in China: Including a Rare Case With Nephronophthisis.Molecular genetics & genomic medicine · 2026Review
- A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.Journal of atherosclerosis and thrombosis · 2026Article
- Sitosterolemia due to compound heterozygous mutations in ABCG5: a case report.Journal of medical case reports · 2026Article
- Molecular genetic basis and clinical heterogeneity of sitosterolemia: focusing on the mutation spectrum and pathogenic mechanisms of ABCG5/ABCG8 genes.Frontiers in nutrition · 2026Review
- Factors Affecting Circulating Phytosterol Levels: Toward an Integrated Understanding of Atherogenicity and Atheroprotection by Dietary and Circulating Phytosterols.Current atherosclerosis reports · 2025Review
- Sitosterolemia carrying both ABCG5 and HBA gene mutations: a case report and review of the literature.Journal of medical case reports · 2025Review
- Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report.Archives of endocrinology and metabolism · 2025Article
- Clinical, genetic characteristics and long-term follow-up of sitosterolemia in children.Translational pediatrics · 2025Article
- Platelet proteomic profiling in sitosterolemia suggests thrombocytopenia is driven by lipid disorder and not platelet aberrations.Blood advances · 2024Article
- Gene variants and clinical characteristics of children with sitosterolemia.Lipids in health and disease · 2024Article
- [Child with sitosterolemia initially presenting with hemolytic anemia and thrombocytopenia: a case repore and literrature review].Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi · 2024Article
- Pediatric Patients with Sitosterolemia: Next-Generation Sequencing and Biochemical Examination in Clinical Practice.Journal of personalized medicine · 2023Article
- Differential Effects ofGenes · 2023Article
- Sitosterolemia: A Case Report and a Concise Literature Review.Case reports in endocrinology · 2023Article
- Clinical characteristics of sitosterolemic children with xanthomas as the first manifestation.Lipids in health and disease · 2022Article
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundSitosterolemia is a lipid disorder characterized by the accumulation of phytosterols in plasma and organs, caused by mutations in the ABCG5 and/or ABCG8 genes. The disease is frequently misdiagnosed and mistreated as familial hypercholesterolemia (FH). To gain a better understanding of the disease, the current status of diagnosis and treatment of Chinese patients with sitosterolemia was reviewed and summarized.
methodLiterature search was performed. The clinical features and molecular characteristics of Chinese patients with sitosterolemia were analysed. Four children with sitosterolemia and the treatment experience were described.
resultsFifty-five patients with sitosterolemia have been reported in China. These patients were aged from 3 months to 67 years at diagnosis, and the median was 8 years of age. Several complications, such as xanthomas in 47 patients (85%), thrombocytopenia in 17 patients (31%), anemia in 14 patients (25%), and cardiovascular damage in 12 patients (22%), were observed. Thirty-nine patients (71%) exhibited mutations in the ABCG5 gene, 15 patients (27%) showed mutations in ABCG8, and variations in both genes occurred in one patient (2%). A patient with two clinically rare diseases, namely, sitosterolemia and glycogen storage disease type VI (GSD VI)), is reported here for the first time. The four reported patients were treated with low cholesterol and phytosterol-limited diet alone or combined with cholestyramine. Even though decreases were observed for total plasma cholesterol (TC) and low-density-lipoprotein cholesterol (LDL-C), and these levels were as low as normal in some patients, the levels of plant sterols remained above the normal range. However, TC, LDL-C and plant sterol levels remained at high levels in patients treated with a control diet control only.
conclusionsThe analysis reveals that different from Caucasians carrying mainly variations in ABCG8, most Chinese patients have mutations in the ABCG5 gene, and Arg446Ter, Gln251Ter, anArg389His might be hot-spot mutations in Chinese patients. The current survey provides clinical data to enable the development of a standardized protocol for the diagnosis and treatment of sitosterolemia in China.
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