Background: Sitosterolemia is a rare autosomal recessive disease whose key feature is the inability to diminish uptake in the gut of noncholesterol sterols, such as those of plants and shellfish, or to excrete noncholesterol sterols into the bile ( 1, 2). It is caused by mutations in the adenosine triphosphate–binding cassette subfamily G member 5 or member 8 (ABCG5 or ABCG8) gene (1). Approximately 100 cases have been reported (1). The clinical manifestations in homozygous sitosterolemic patients are similar to those in patients with homozygous familial hypercholesterolemia. However, the total serum cholesterol levels in patients with homozygous sitosterolemia vary markedly, ranging from normal to extremely high (1, 2). Lipoprotein apheresis is used to reduce the levels of lipoproteins containing apolipoprotein B in patients with homozygous familial hypercholesterolemia. To our knowledge, use of lipoprotein apheresis for sitosterolemia has not been reported.

背景：谷固醇血症是一种罕见的常染色体隐性遗传疾病，其主要特征是无法减少非胆固醇固醇（例如植物和贝类）的肠内摄取或无法将非胆固醇固醇排入胆汁（1、2）。它是由三磷酸腺苷结合盒亚家族G成员5或成员8（ABCG5或ABCG8）基因（1）。据报道约有100例（1）。纯合性高脂血症患者的临床表现与纯合性家族性高胆固醇血症患者的临床表现相似。然而，纯合子固醇血症患者的总血清胆固醇水平差异显着，范围从正常到极高（1、2）。脂蛋白单采可以降低纯合子家族性高胆固醇血症患者的含载脂蛋白B的脂蛋白水平。据我们所知，尚未报道脂蛋白血液分离术用于谷固醇血症。