Hu Y J, Chen W L, Xue M, Ding Y J, Mei H, Wang Y D
Department of Hematology, Tongji Medical College Affiliated Union Hospital, Huazhong University of Science and technology, Wuhan 430022, China.
Zhonghua Xue Ye Xue Za Zhi. 2025 Mar 14;46(3):238-243. doi: 10.3760/cma.j.cn121090-20240710-00257.
To analyze the clinical characteristics of adult patients with phytosterolemia presenting with thrombocytopenia as the initial manifestation. A retrospective analysis was conducted on eight adult patients with phytosterolemia who visited Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, from December 2020 to December 2023. ① The participants consisted of 2 (25%) male and 6 (75%) female patients, with a median age at diagnosis of 55 years (range: 29-66 years). The median duration from the discovery of thrombocytopenia to diagnosis was 10 years (range: 0.2-50 years). ② Compared with the normal control group (30 healthy adult volunteers) and the immune thrombocytopenia (ITP) control group (20 patients with ITP), patients with phytosterolemia exhibited significantly higher mean platelet volume and large platelet ratio. Peripheral blood smears revealed that the mean platelet diameter and the proportion of large platelets (diameter> 4 μm) were significantly higher in patients with phytosterolemia than those in the normal and ITP control groups (<0.01). ③ After a low-plant-sterol diet and ezetimibe treatment, five patients demonstrated decreased serum sitosterol and campesterol levels, increased hemoglobin concentration and platelet counts, and reduced platelet volume. Adult-onset phytosterolemia presenting with thrombocytopenia as the initial manifestation is prone to misdiagnosis. The presence of hemolytic anemia, splenomegaly, increased large platelets and schistocytes on peripheral blood smears, and xanthomas are crucial diagnostic indicators. Restricting dietary plant sterol intake and using ezetimibe to inhibit sterol absorption effectively lowers serum plant sterol levels and improves hematological abnormalities.
分析以血小板减少为首发表现的成人植物甾醇血症患者的临床特征。对2020年12月至2023年12月期间在华中科技大学同济医学院附属协和医院就诊的8例成人植物甾醇血症患者进行回顾性分析。①参与者包括2例（25%）男性和6例（75%）女性患者，诊断时的中位年龄为55岁（范围：29 - 66岁）。从发现血小板减少到诊断的中位时间为10年（范围：0.2 - 50年）。②与正常对照组（30名健康成年志愿者）和免疫性血小板减少症（ITP）对照组（20例ITP患者）相比，植物甾醇血症患者的平均血小板体积和大血小板比例显著更高。外周血涂片显示，植物甾醇血症患者的平均血小板直径和大血小板（直径>4μm）比例显著高于正常对照组和ITP对照组（<0.01）。③经过低植物甾醇饮食和依折麦布治疗后，5例患者的血清谷甾醇和菜油甾醇水平降低，血红蛋白浓度和血小板计数升高，血小板体积减小。以血小板减少为首发表现的成人起病型植物甾醇血症容易误诊。溶血性贫血、脾肿大、外周血涂片上大血小板和裂红细胞增多以及黄色瘤的存在是关键的诊断指标。限制饮食中植物甾醇的摄入并使用依折麦布抑制甾醇吸收可有效降低血清植物甾醇水平并改善血液学异常。
