纯合子家族性高胆固醇血症中的脑胆固醇肉芽肿
Cerebral cholesterol granuloma in homozygous familial hypercholesterolemia.
作者信息
Francis Gordon A, Johnson Royce L, Findlay J Max, Wang Jian, Hegele Robert A
机构信息
Department of Medicine and Biochemistry, University of Alberta, Edmonton, Alta.
出版信息
CMAJ. 2005 Feb 15;172(4):495-7. doi: 10.1503/cmaj.1041152.
Abstract
Familial hypercholesterolemia (FH) is characterized by the accumulation of excess cholesterol in tissues including the artery wall and tendons. We describe a patient with homozygous FH who presented with asymptomatic cholesterol granuloma of the brain. The patient's plasma low-density lipoprotein cholesterol level was remarkably responsive to combination hypolipidemic therapy with statin plus ezetimibe. This case illustrates another potential complication of whole-body cholesterol excess and underscores the differences in phenotype and in response to therapy among patients with FH.
摘要
家族性高胆固醇血症（FH）的特征是在包括动脉壁和肌腱在内的组织中积累过多胆固醇。我们描述了一名患有纯合子FH的患者，该患者出现了无症状性脑胆固醇肉芽肿。该患者的血浆低密度脂蛋白胆固醇水平对他汀类药物加依折麦布的联合降脂治疗有显著反应。这个病例说明了全身胆固醇过量的另一种潜在并发症，并强调了FH患者在表型和对治疗反应方面的差异。
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