【摘要】 患者男，22岁，两肘关节伸侧。右足跟相继出现扁平、结节状黄色肿块7年，无自觉症状。血胆固醇、β脂蛋白异常增高；心脏多普勒超声提示主动脉瓣增厚伴轻度主动脉返流；眼科检查发现角膜环；手术切除左肘部黄色肿块。组织病理切片报告真皮网状层大量泡沫状组织细胞浸润，并见多核巨细胞。家族史中患者胞弟7岁开始有同样发病，15岁时死于心脏病。更多还原

【Abstract】 A 22 year old male patient had presented with plane, nodular xanthomas on thedorsal part of both elbow joints and the right heel without subjective symptoms for 7 years.Laboratory study showed hypercholesterolemia and masked -lipoproteinemia; ultra-sound ofbeart doppler revealed aortic valve thickened with mild insufficiency, and histological ex-amination found multinuclear giant cells and foam cells in the specimen of xanthoma re-moved from the left elbow joint. Family history revealed that the patient’s younger brotherwith the same clinical manifestations hegan at age 7 and died from cardiovascular compli-cations of the disease at age 15.更多还原