Guirado S S S, Conejo-Mir J S, Muñoz M A, Wite J B, Fernandez-Freire L R, Ortíz J V
Department of Dermatology, Hospital Universitario Virgen del Rocío, Seville, Spain.
J Eur Acad Dermatol Venereol. 2007 Jan;21(1):100-3. doi: 10.1111/j.1468-3083.2006.01763.x.
Sitosterolaemia is a lipid disorder in which plasma plant sterol levels are extremely elevated. Sitosterolaemia is clinically characterized by tuberous and tendon xanthomas, premature vascular disease and arthritis.
To report a case of sitosterolaemia diagnosed by cutaneous manifestations and to review this rare disease.
We report the case of a 60-year-old woman who presented with cutaneous xanthomas, arterial hypertension and polyarthralgias. The patient had had hypercholesterolaemia for many years without reduction of serum cholesterol, despite treatment with fenofibrate.
Ezetimibe therapy was started, decreasing sitosterol plasmatic levels and tuberous xanthomas after 3 months of treatment.
It is important to detect levels of sitosterol in plasma in patients with premature vascular disease, presence of xanthomas, and uncontrolled hypercholesterolaemia. Ezetimibe therapy is effective.
谷甾醇血症是一种脂质紊乱疾病，其血浆植物甾醇水平极度升高。谷甾醇血症的临床特征为结节性和肌腱性黄色瘤、早发性血管疾病和关节炎。
报告一例通过皮肤表现诊断出的谷甾醇血症病例，并对这种罕见疾病进行综述。
我们报告了一例60岁女性患者，其出现皮肤黄色瘤、动脉高血压和多关节痛。该患者多年来一直患有高胆固醇血症，尽管使用非诺贝特治疗，但血清胆固醇并未降低。
开始使用依折麦布治疗，治疗3个月后，血浆谷甾醇水平降低，结节性黄色瘤减少。
对于患有早发性血管疾病、存在黄色瘤且高胆固醇血症控制不佳的患者，检测血浆中谷甾醇水平很重要。依折麦布治疗有效。
