ArticleWorld journal of clinical cases2025
Homozygous phytosterolemia and a literature review: A case report.
Article in World journal of clinical cases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- Sitosterolemia misdiagnosed as homozygous familial hypercholesterolemia: A diagnostic challenge.American journal of preventive cardiology · 2026Article
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4 authors.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundPhytosterolemia, also known as sitosterolemia, is a rare autosomal recessive disease characterized by elevated plasma plant sterol levels and xanthomata, which is easily misdiagnosed as familial hypercholesterolemia. Patients with homozygous phytosterolemia often have severe clinical manifestations, with xanthomata in childhood and premature atherosclerosis. Our patient had a milder clinical phenotype. CASE SUMMARY: This report describes a patient with homozygous phytosterolemia who presented with only elevated cholesterol and low-density lipoprotein cholesterol (LDL-C) without xanthomata, arteriosclerosis, or hematological abnormalities. Homozygous mutation of
conclusionPhytosterolemia is easily misdiagnosed as familial hypercholesterolaemia and can be treated by dietary modification and cholesterol absorption inhibitors to lower blood lipids.
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