Huang Shuyue, Du Mu, Wang Xi'ou, Liu Yi, Song Fuying
Department of Endocrinology, The Children's Hospital Capital Institute of Pediatrics, Beijing, China.
Transl Pediatr. 2025 Feb 28;14(2):222-230. doi: 10.21037/tp-24-457. Epub 2025 Feb 25.
Sitosterolemia is a rare lipid disorder characterized by elevated phytosterols and low-density lipoprotein cholesterol (LDL-C), resulting from pathogenic variants in the and/or genes. To enhance the understanding of this condition, we systematically summarized the clinical manifestations, laboratory findings, gene variations, and treatment effect outcomes in 12 pediatric patients diagnosed with sitosterolemia.
The clinical features, laboratory profiles, and gene variations of 12 children diagnosed with sitosterolemia were analyzed. Long-term follow-up was conducted, with the longest observation period exceeding 8 years.
A total of 12 patients with sitosterolemia were diagnosed at our center. The age at diagnosis ranged from 4 months to 8.3 years, with a median age of 1.2 years. Seven patients presented with xanthoma. All patients underwent genetic testing, which revealed variants in 10 patients and an pathogenic variant in one patient; no detectable variants were identified in one patient. Serum sitosterol levels were measured in nine patients, confirming the diagnosis in all cases. Nine patients were managed with a diet low in cholesterol and phytosterols, while three patients received ezetimibe and/or cholestyramine. Long-term follow-up demonstrated reductions in total cholesterol (TC) and LDL-C levels across all patients. Notably, xanthomas resolved in three patients within 1-2 years of treatment, and significant improvement was observed in the remaining four patients.
Xanthoma is a hallmark clinical feature in pediatric sitosterolemia, with most cases linked to variants in the gene. Genetic testing and serum phytosterol profiling are essential for diagnosis. Dietary modification alone can achieve favorable outcomes in a substantial number of patients. Furthermore, ezetimibe and cholestyramine have proven effective in managing sitosterolemia in children, contributing to significant clinical improvement.
谷甾醇血症是一种罕见的脂质紊乱疾病，其特征为植物甾醇和低密度脂蛋白胆固醇（LDL-C）升高，由 和/或 基因的致病变异引起。为了加深对这种疾病的理解，我们系统总结了12例诊断为谷甾醇血症的儿科患者的临床表现、实验室检查结果、基因变异及治疗效果。
分析了12例诊断为谷甾醇血症儿童的临床特征、实验室检查结果及基因变异情况。进行了长期随访，最长观察期超过8年。
我们中心共诊断出12例谷甾醇血症患者。诊断时年龄范围为4个月至8.3岁，中位年龄为1.2岁。7例患者出现了黄色瘤。所有患者均接受了基因检测，其中10例患者检测到 变异，1例患者检测到 致病变异；1例患者未检测到可识别的变异。对9例患者进行了血清植物甾醇水平检测，所有病例均得以确诊。9例患者采用低胆固醇和植物甾醇饮食管理，3例患者接受了依折麦布和/或考来烯胺治疗。长期随访显示所有患者的总胆固醇（TC）和LDL-C水平均有所降低。值得注意的是，3例患者在治疗1 - 2年内黄色瘤消退，其余4例患者也有显著改善。
黄色瘤是儿科谷甾醇血症的标志性临床特征，大多数病例与 基因变异有关。基因检测和血清植物甾醇分析对诊断至关重要。仅通过饮食调整就能使大量患者取得良好效果。此外，依折麦布和考来烯胺已被证明对儿童谷甾醇血症的治疗有效，有助于实现显著的临床改善。
