患儿,男,14岁,1993年5岁时发现皮肤黄色瘤,1997年到我院就诊,无胸闷及体力活动受限,双肺呼吸音清晰,心率78次/min,心尖部及主动脉瓣听诊区可闻及Ⅱ级收缩期吹风样杂音,双颈部可闻及Ⅲ级收缩期吹风样杂音,肘、膝关节伸侧,手背及跟腱处多发性黄豆至花生米大小黄色瘤。血、尿常规,肝肾功能,血糖及心电图均正常,3次查血浆总胆固醇(TC)、低密度脂蛋白胆固醇(LDL-C)均显 Children, male, 14 years old, 5 years old found in 1993, skin yellow tumor, 1997 to our hospital, no chest tightness and physical activity is limited, clear breath sounds of lungs, heart rate 78 beats / min, apex and aorta Auscultation of the valve can be heard and grade Ⅱ systolic hair-like murmur, both neck can be heard and Ⅲ grade systolic hair-like murmur, elbow, knee extensor side, back of the hand and Achilles tendon at multiple soybeans to peanut-sized xanthomas. Blood, urine, liver and kidney function, blood glucose and electrocardiogram were normal, three times to check the plasma total cholesterol (TC), low density lipoprotein cholesterol (LDL-C) were significantly