The University of Chicago Pritzker School of Medicine, 515 North State Street, Suite 2700, Chicago, IL 60654, USA.
J Clin Lipidol. 2011 Mar-Apr;5(2):76-81. doi: 10.1016/j.jacl.2011.01.005. Epub 2011 Jan 31.
Familial hypercholesterolemia, which arises as a result of a mutation in the low-density lipoprotein (LDL) receptor gene, is characterized by elevated levels of low-density lipoprotein cholesterol (LDL-C), regardless of dietary and lifestyle modifications. Pharmacological therapy is often required to adequately control the elevated LDL-C levels associated with familial hypercholesterolemia. However, children with this genetic condition present many challenges for physicians, who must weigh the benefits of lipid-lowering therapy against the risks associated with the various treatment options. Furthermore, because familial hypercholesterolemia is a chronic condition, children will likely require long-term lipid-lowering therapy. As such, the potential effect of pharmacological treatment on development is of paramount importance in this population. Bile acid sequestrants represent a unique treatment option for children with familial hypercholesterolemia in that these agents are not systemically absorbed but rather exert their lipid-lowering effects via binding to bile acids within the gastrointestinal tract. A literature search was performed to identify clinical data related to the use of bile acid sequestrant therapy in children (< 18 years of age) with familial hypercholesterolemia. Studies published in English between 1990 and December 2010 that were retrieved from MEDLINE and EMBASE were included in this systematic review. In total, five clinical studies were identified that evaluated bile acid sequestrant monotherapy, whereas two studies were identified that evaluated combination therapy with a bile acid sequestrant and low-dose statin. This review summarizes the clinical data regarding the efficacy and safety of bile acid sequestrants in this specialized population.
家族性高胆固醇血症是由于低密度脂蛋白 (LDL) 受体基因发生突变引起的，其特征是无论饮食和生活方式如何改变，低密度脂蛋白胆固醇 (LDL-C) 水平均升高。通常需要药物治疗来充分控制与家族性高胆固醇血症相关的升高的 LDL-C 水平。然而，患有这种遗传疾病的儿童给医生带来了许多挑战，医生必须权衡降脂治疗的益处与各种治疗选择相关的风险。此外，由于家族性高胆固醇血症是一种慢性疾病，儿童可能需要长期的降脂治疗。因此，药物治疗对该人群发育的潜在影响至关重要。胆酸螯合剂是家族性高胆固醇血症儿童的一种独特治疗选择，因为这些药物不会被全身吸收，而是通过与胃肠道内的胆酸结合发挥其降脂作用。进行了文献检索，以确定与在患有家族性高胆固醇血症的儿童（<18 岁）中使用胆酸螯合剂治疗相关的临床数据。纳入了本系统评价的研究为 1990 年至 2010 年 12 月期间发表的、在 MEDLINE 和 EMBASE 中检索到的英文研究。共有 5 项临床研究评估了胆酸螯合剂单药治疗，而有 2 项研究评估了胆酸螯合剂与低剂量他汀类药物联合治疗。本综述总结了关于胆酸螯合剂在该特殊人群中的疗效和安全性的临床数据。
