Salen Gerald, Starc Thomas, Sisk Christine McCrary, Patel Shailendra B
Department of Medicine, UMD-New Jersey Medical School, Newark, New Jersey; Veterans Affairs Medical Center, East Orange, New Jersey, USA.
Gastroenterology. 2006 May;130(6):1853-7. doi: 10.1053/j.gastro.2006.02.027.
Sitosterolemia is a rare, recessively inherited disorder characterized by increased absorption and delayed removal of noncholesterol sterols, which is associated with accelerated atherosclerosis, premature coronary artery disease, hemolysis, and xanthomatosis. Treatments include low-sterol diet and bile salt-binding resins; however, these often do not reduce the xanthomatosis. We examined the effects of the intestinal cholesterol/phytosterol transporter inhibitor ezetimibe added to cholestyramine in a young female patient with sitosterolemia and associated xanthomatosis. The patient was an 11-year-old female with sitosterolemia presenting with prominent xanthomas in the subcutaneous tissue of both elbows who was receiving treatment with cholestyramine 2 g once daily. Bilateral carotid bruits were audible, and a grade II/VI systolic murmur was detected at the left upper sternal border. She also had a low platelet count of 111,000/microL. Ezetimibe 10 mg once daily was added to the patient's ongoing cholestyramine regimen, and she was evaluated for 1 year. The patient followed an unrestricted diet during the 1-year treatment period. After 1 year of treatment with ezetimibe added to ongoing cholestyramine therapy, the patient's plasma sitosterol and campesterol levels decreased by approximately 50%. Her carotid bruits completely resolved, her systolic murmur diminished, and her platelet count rose to 268,000/microL. More remarkably, the tuberous xanthomas on her elbows had completely regressed. Ezetimibe added to ongoing low-dose cholestyramine therapy led to a marked improvement in plasma sterol concentrations, complete regression of xanthomatosis, resolution of carotid bruits, and improvement in cardiac murmur in a young female patient with sitosterolemia.
谷甾醇血症是一种罕见的隐性遗传性疾病，其特征是肠道对非胆固醇甾醇的吸收增加且清除延迟，与动脉粥样硬化加速、早发性冠状动脉疾病、溶血和黄瘤病相关。治疗方法包括低甾醇饮食和胆汁酸结合树脂；然而，这些方法往往无法减轻黄瘤病。我们在一名患有谷甾醇血症及相关黄瘤病的年轻女性患者中，研究了在考来烯胺基础上加用肠道胆固醇/植物甾醇转运抑制剂依泽替米贝的效果。该患者为一名11岁患有谷甾醇血症的女性，双肘皮下组织有明显的黄瘤，正在接受每日1次2 g考来烯胺的治疗。双侧颈动脉可闻及杂音，在胸骨左缘上方可检测到II/VI级收缩期杂音。她的血小板计数也较低，为111,000/微升。在患者正在进行的考来烯胺治疗方案中加用每日1次10 mg依泽替米贝，并对她进行了1年的评估。在1年的治疗期间，患者饮食不受限制。在考来烯胺治疗基础上加用依泽替米贝治疗1年后，患者的血浆谷甾醇和菜油甾醇水平下降了约50%。她的颈动脉杂音完全消失，收缩期杂音减弱，血小板计数升至268,000/微升。更显著的是，她双肘上的结节性黄瘤已完全消退。在一名患有谷甾醇血症的年轻女性患者中，在低剂量考来烯胺持续治疗基础上加用依泽替米贝可使血浆甾醇浓度显著改善、黄瘤病完全消退、颈动脉杂音消失并使心脏杂音改善。
