Misdiagnosis of sitosterolemia in a patient as Evans syndrome and familial hypercholesterolemia

Meng Qin,Panyu Luo,Xiaorong Wen,Jianwei Li

Journal of Clinical Lipidology（2022）

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摘要

•Sitosterolemia can be a multi-system disorder and is easily misdiagnosed.•Abnormal blood cell morphology is relatively distinctive feature of sitosterolemia.•Gene testing and plant sterols analysis help confirm a diagnosis of sitosterolemia.

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关键词

Sitosterolemia,anemia,macrothrombocytopenia,xanthomas,atherosclerosis,hypercholesterolemia,tenosynovitis,ABCG5,misdiagnosis

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