家族性高胆固醇血症合并双侧颞骨黄色瘤一例报告并文献复习

Bilateral temporal bone xanthomas in familial hypercholesterolemia

家族性高胆固醇血症是一种常染色体显性遗传病,以血液胆固醇、尤其是低密度脂蛋白胆固醇明显增高,皮肤及跟腱黄色瘤和早发冠心病为临床特征。发生在颞骨的黄色瘤非常罕见。黄色瘤病理镜下改变为:大量泡沫细胞或黄色瘤细胞浸润,大量呈菱形裂隙的胆固醇结晶、周围有异物多核巨细胞。治疗上采取针对病因的内科治疗和手术相结合的综合治疗。

Familial hypercholesterolemia is a type of autosomal-dominant hereditary diseases, clinically featuring increased serum cholesterol （especially significantly increased low-density lipoprotein cholesterol）, skin and tendon xanthomas and premature coronary heart disease. Xanthoma of the temporal bone is extremely rare. Histologically, xanthomas appear as sheets of foamy histiocytes or xanthoma cells and cholesterol clefts, interspersed with foreign body macrophages. The treatment strategy includes medical therapy for hypercholesterolemia combined with surgical removal of lesio.