ArticleJIMD reports2019
Sitosterolemia-10 years observation in two sisters.
Article in JIMD reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 14 citations in OpenAlex.
- A Catalog of the Pathogenic Variants in ABCG5 and ABCG8 and Clinical Features in Sitosterolemia.Journal of atherosclerosis and thrombosis · 2026Article
- Phenotypes, Genotypes, Treatment, and Outcomes of 14 Children with Sitosterolemia at Vietnam National Children's Hospital.Journal of clinical medicine · 2025Article
- Article
- Seventeen years of misdiagnosis in rare dyslipidaemia: a case report of sitosterolaemia in a young female.European heart journal. Case reports · 2021Article
- Dig deeper when it does not make sense: Juvenile xanthomas due to sitosterolemia.JIMD reports · 2020Article
- Sitosterolemia-10 years observation in two sisters.JIMD reports · 2019Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial hypercholesterolemia due to heterozygous low-density lipoprotein-receptor mutations is a common inborn errors of metabolism. Secondary hypercholesterolemia due to a defect in phytosterol metabolism is far less common and may escape diagnosis during the work-up of patients with dyslipidemias. Here we report on two sisters with the rare, autosomal recessive condition, sitosterolemia. This disease is caused by mutations in a defective adenosine triphosphate-binding cassette sterol excretion transporter, leading to highly elevated plant sterol concentrations in tissues and to a wide range of symptoms. After a delayed diagnosis, treatment with a diet low in plant lipids plus ezetimibe to block the absorption of sterols corrected most of the clinical and biochemical signs of the disease. We followed the two patients for over 10 years and report their initial presentation and long-term response to treatment.
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