家族性高胆固醇血症（ｆａｍｉｌｉａｌｈｙｐｅｒ－ｃｈｏｌｅｓ－ｔｅｒｏｌａｅｍｉａ，ＦＨ）是低密度脂蛋白（ＬＤＬ）受体基因突变所致的常染色体显性遗传性疾病。对ＦＨ的早期诊断，可降低动脉硬化冠心病的发生率。现将近期所见１例报告如下。病例与家系患儿，男，... Familial hypercholesterolemia (familialhyper-choles-terolaemia, FH) is an autosomal dominant inherited disease caused by low density lipoprotein (LDL) receptor gene mutation. The early diagnosis of FH can reduce the incidence of atherosclerosis coronary heart disease. Now see a recent report as follows. Cases and pediatric children, male, ...