Sitosterolemia With Atherosclerosis in a Child: A Case Report

Frontiers in Pediatrics

article

Hongjun Ba¹  Huimin Peng¹  Xiufang He¹  Liangping Cheng¹  Yuese Lin¹  Xuandi Li¹  Huishen Wang¹  Youzhen Qin¹ 

[1] Department of Pediatric Cardiology, Heart Center, The First Affiliated Hospital, Sun Yat-sen University;Key Laboratory on Assisted Circulation, Ministry of Health

关键词: sitosterolemia;    atherosclerosis;    hypercholesterolemia;    xanthoma;    genetic;    mutation;   

DOI  :  10.3389/fped.2021.668316

学科分类：社会科学、人文和艺术（综合）

来源: Frontiers

【 摘 要 】

Introduction: Sitosterolemia is a rare condition in children and is often misdiagnosed as familial hypercholesterolemia. Serious complications can result if not treated promptly and effectively. When pediatric patients are diagnosed with sitosterolemia, vascular, and cardiac studies are important to evaluate for the presence of atherosclerosis. Few cases of severe atherosclerotic heart disease in children with sitosterolemia have been reported, making this case worthy of presentation. Case Presentation: Here, we report a case of sitosterolemia in an 8-year-old child. The patient presented with severe hypercholesterolemia and xanthoma. He was diagnosed two and a half years prior with familial hypercholesterolemia because his father had elevated cholesterol levels. After conventional treatment, the patient was dissatisfied with lipid level control and visited our hospital for further management. Genetic tests of the patient and parents found mutations in intron 7 (NM 022436.2, c.904+1G>A) and intron 9 (NM 022436.2, C. 1324+1de1G) of ABCG5. The 7 intron mutation was from his mother, and the 9 intron mutation was from his father. The patient was diagnosed with sitosterolemia. Results: The child was treated with ezetimibe, a low plant sterol diet, and clopidogrel anticoagulant therapy. After 3 months of treatment, the blood lipid level was significantly lower. Conclusion: Genetic testing should be completed as soon as possible to avoid misdiagnosis in children with abnormally elevated hypercholesterolemia who have a family history of elevated cholesterol. In addition, clinicians should rule out great arterial lesions and be vigilant in evaluating patients for systemic arterial disease and atherosclerosis.

【 授权许可】

CC BY