家族性高胆固醇血症不但有皮肤黄色瘤,还可有心血管、关节和眼的表现。现报告一个五人患此病的家族。吴××(Ⅲ_4),女,28岁,农场工人.1972年起常有手、足、膝、踝关节肿痛,伴发热,血沉增速,曾诊断为“风湿性关节炎”。1973年发现眼睑部黄色小块,逐渐增大,以后肘、膝、臀也出现黄色肿块,不痛。1975年起有劳动后心慌、气急. Familial hypercholesterolemia is not only skin yellow tumor, but also have cardiovascular, joint and eye performance. A family of five people is now reported. Wu × × (Ⅲ_4), female, 28 years old, farm workers .1972 often hand, foot, knee, ankle swelling and pain, fever, ESR growth, had been diagnosed as “rheumatoid arthritis.” In 1973 found that the yellow eyelid small pieces, gradually increased, after the elbow, knee, buttocks also appear yellow mass, no pain. After working from 1975, palpitation, shortness of breath.