Jiang CX, Yang G, Shi LP, Su PY. Homozygous phytosterolemia and a literature review: A case report. World J Clin Cases 2025; 13(10): 101935 [DOI: 10.12998/wjcc.v13.i10.101935]
Corresponding Author of This Article
Peng-Yu Su, MD, PhD, Department of Cardiovascular, North China University of Science and Technology Affiliated Hospital, No. 73 South Construction Road, Lubei District, Tangshan 063000, Hebei Province, China. yezi9725@sina.com
Research Domain of This Article
Medicine, General & Internal
Article-Type of This Article
Case Report
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Homozygous phytosterolemia and a literature review: A case report
Chun-Xin Jiang, Guang Yang, Lian-Ping Shi, Peng-Yu Su
Chun-Xin Jiang, Guang Yang, Lian-Ping Shi, Peng-Yu Su, Department of Cardiovascular, North China University of Science and Technology Affiliated Hospital, Tangshan 063000, Hebei Province, China
Co-first authors: Chun-Xin Jiang and Guang Yang.
Author contributions: Su PY designed the research study; Jiang CX and Shi LP performed the research; Jiang CX and Yang G analyzed the data and wrote the manuscript. Jiang CX and Yang G contributed equally to this work as co-first authors.
Supported by Natural Science Foundation of Heibei Province, No. H2020209160.
Informed consent statement: All study participants and their legal guardians provided informed written consent prior to enrolment in the study.
Conflict-of-interest statement: All the authors report having no relevant conflicts of interest for this article.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: https://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Peng-Yu Su, MD, PhD, Department of Cardiovascular, North China University of Science and Technology Affiliated Hospital, No. 73 South Construction Road, Lubei District, Tangshan 063000, Hebei Province, China. yezi9725@sina.com
Received: October 1, 2024 Revised: October 31, 2024 Accepted: December 3, 2024 Published online: April 6, 2025 Processing time: 78 Days and 9.6 Hours
Abstract
BACKGROUND
Phytosterolemia, 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 ABCG5 which encodes an ATP-binding cassette transporter, was detected by whole exome sequencing and diagnosed as phytosterolemia. Measurement of the patient’s plasma plant sterol levels detected significant elevations in stigmasterol, rapeseed oil-derived plant sterol, and β-glutaminol levels. Ezetimibe was started and a low plant sterol diet was recommended. The patient’s blood lipid profile was reexamined one month later and showed significant decreases in total cholesterol and LDL-C levels. Phytosterolemia has similar clinical features as familial hypercholesterolemia, is highly susceptible to misdiagnosis, and has a very low incidence, and therefore clinicians need to consider a genetic diagnosis of a definitively hyperlipidemic disorder when statin drugs fail to lower lipid levels.
CONCLUSION
Phytosterolemia is easily misdiagnosed as familial hypercholesterolaemia and can be treated by dietary modification and cholesterol absorption inhibitors to lower blood lipids.
Core Tip: We have reported a rare homozygous phytosterolemia. We followed up the patient and found that dietary regulation can play a role in lowering blood lipids, and lipid-lowering drugs can be avoided if the diet is well controlled. Second, ezetimibe can reduce plant steroidemia. Most of the parents of homozygous plant steroidemia are close relatives. In this case, the parents of the patient are not close relatives. We will also follow up the patient's family members.
