Sitosterolemia: Diagnosis, Investigation, and Management
Sitosterolemia: Diagnosis, Investigation, and Management
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DOI：
10.1007/s11883-014-0424-2
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发表时间：
2014-07-01
影响因子：
5.8
通讯作者：
Blanco-Vaca, Francisco
中科院分区：
文献类型：
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作者：
Carles Escola-Gil, Joan;Quesada, Helena;Blanco-Vaca, Francisco
谷甾醇血症是一种罕见的常染色体隐性遗传性疾病，由位于人类染色体2p21带的ABCG 5或ABCG 8突变引起。文献中报告了约100例病例。谷甾醇血症患者通常表现出植物甾醇的血浆浓度增加30倍至100倍。临床表现包括黄色瘤、过早动脉粥样硬化、溶血性贫血和巨血小板减少症。值得注意的是，异常的血液学参数可能是唯一的临床特征的谷甾醇血症患者，表明谷甾醇血症可能比以前认为的更频繁。在谷甾醇血症小鼠模型中，植物甾醇的严重积累诱导了复杂的心脏病变、贫血和巨血小板减少症，破坏了肾上腺和肝脏胆固醇的稳态，并导致不育和高胆固醇血症。目前尚不清楚是否所有的疾病特征都存在于谷固醇血症患者。依折麦布似乎能有效降低血浆植物甾醇水平，促进黄瘤消退，并改善谷甾醇血症患者的心血管和血液学体征。
Sitosterolemia is a rare autosomal recessively inherited disease caused by mutations affecting ABCG5 or ABCG8, which are located on human chromosome band 2p21. Around 100 cases have been reported in the literature. Sitosterolemic patients typically exhibit a 30-fold to 100-fold increase in plasma concentrations of plant sterols. The clinical manifestations include xanthomas, premature atherosclerosis, hemolytic anemia, and macrothrombocytopenia. It is noteworthy that abnormal hematological parameters may be the only clinical feature of sitosterolemic patients, suggesting that sitosterolemia may be more frequent than previously thought. Severe accumulation of plant sterols in mouse models of sitosterolemia induced complex cardiac lesions, anemia, and macrothrombocytopenia, disrupted adrenal and liver cholesterol homeostasis, and caused infertility and hypertriglyceridemia. It remains unclear whether all disease traits are present in sitosterolemic patients. The drug ezetimibe appears to be effective in reducing plasma plant sterol levels, promotes xanthoma regression, and improves the cardiovascular and hematological signs in sitosterolemic patients.