BACKGROUND Familial hypercholesterolemia is characterized by severely elevated low-density lipoprotein (LDL) cholesterol levels and premature cardiovascular disease. The short-term efficacy of statin therapy in children is well established, but longer follow-up studies evaluating changes in the risk of cardiovascular disease are scarce. METHODS We report a 20-year follow-up study of statin therapy in children. A total of 214 patients with familial hypercholesterolemia (genetically confirmed in 98% of the patients), who were previously participants in a placebo-controlled trial evaluating the 2-year efficacy and safety of pravastatin, were invited for follow-up, together with their 95 unaffected siblings. Participants completed a questionnaire, provided blood samples, and underwent measurements of carotid intima-media thickness. The incidence of cardiovascular disease among the patients with familial hypercholesterolemia was compared with that among their 156 affected parents. RESULTS Of the original cohort, 184 of 214 patients with familial hypercholesterolemia (86%) and 77 of 95 siblings (81%) were seen in follow-up; among the 214 patients, data on cardiovascular events and on death from cardiovascular causes were available for 203 (95%) and 214 (100%), respectively. The mean LDL cholesterol level in the patients had decreased from 237.3 to 160.7 mg per deciliter (from 6.13 to 4.16 mmol per liter) - a decrease of 32% from the baseline level; treatment goals (LDL cholesterol <100 mg per deciliter [2.59 mmol per liter]) were achieved in 37 patients (20%). Mean progression of carotid intima-media thickness over the entire follow-up period was 0.0056 mm per year in patients with familial hypercholesterolemia and 0.0057 mm per year in siblings (mean difference adjusted for sex, -0.0001 mm per year; 95% confidence interval, -0.0010 to 0.0008). The cumulative incidence of cardiovascular events and of death from cardiovascular causes at 39 years of age was lower among the patients with familial hypercholesterolemia than among their affected parents (1% vs. 26% and 0% vs. 7%, respectively). CONCLUSIONS In this study, initiation of statin therapy during childhood in patients with familial hypercholesterolemia slowed the progression of carotid intima-media thickness and reduced the risk of cardiovascular disease in adulthood. (Funded by the AMC Foundation.).

中文翻译：

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家族性高胆固醇血症儿童他汀类药物的20年随访。

背景技术家族性高胆固醇血症的特征在于严重升高的低密度脂蛋白（LDL）胆固醇水平和过早的心血管疾病。他汀类药物在儿童中的短期疗效已得到公认，但缺乏评估心血管疾病风险变化的长期随访研究。方法我们报告了他汀类药物治疗儿童的20年随访研究。共有214位家族性高胆固醇血症患者（98％的患者经基因证实）以前曾参加过评估普伐他汀2年疗效和安全性的安慰剂对照试验，并邀请他们随访。 95个未受影响的兄弟姐妹。参与者完成了一份问卷，提供了血液样本，并进行了颈动脉内膜中层厚度的测量。将家族性高胆固醇血症患者的心血管疾病发生率与156名受影响的父母进行了比较。结果在最初的队列研究中，对214例家族性高胆固醇血症患者中的184例（86％）和95例兄弟姐妹中的77例（81％）进行了随访。在这214位患者中，分别有203位（95％）和214位（100％）可获得心血管事件和因心血管原因死亡的数据。患者的平均低密度脂蛋白胆固醇水平从每分升237.3毫克降低到160.7毫克（从每升6.13毫摩尔降低到4.16毫摩尔），比基线水平降低了32％。37位患者（20％）实现了治疗目标（LDL胆固醇<100 mg /分升[2.59 mmol /升]）。在整个随访期间，颈动脉​​内中膜厚度的平均进展为0。家族性高胆固醇血症患者每年0056毫米，兄弟姐妹每年0.0057毫米（按性别调整的平均差异为-0.0001毫米/年； 95％置信区间为-0.0010至0.0008）。家族性高胆固醇血症患者的心血管事件和因心血管原因死亡的累积发生率在其患病父母中较低（分别为1％比26％和0％比7％）。结论在这项研究中，家族性高胆固醇血症患者在儿童期开始他汀类药物治疗减慢了颈动脉内膜中层厚度的发展，并降低了成年后患心血管疾病的风险。（由AMC基金会资助。）。95％置信区间，-0.0010至0.0008）。家族性高胆固醇血症患者的心血管事件和因心血管原因死亡的累积发生率在其患病父母中较低（分别为1％比26％和0％比7％）。结论在这项研究中，家族性高胆固醇血症患者在儿童期开始他汀类药物治疗减慢了颈动脉内膜中层厚度的发展，并降低了成年后患心血管疾病的风险。（由AMC基金会资助。）。95％置信区间，-0.0010至0.0008）。家族性高胆固醇血症患者的心血管事件和因心血管原因死亡的累积发生率低于其受影响的父母（分别为1％比26％和0％比7％）。结论在这项研究中，家族性高胆固醇血症患者在儿童期开始他汀类药物治疗减慢了颈动脉内膜中层厚度的发展，并降低了成年后患心血管疾病的风险。（由AMC基金会资助。）。结论在这项研究中，家族性高胆固醇血症患者在儿童期开始他汀类药物治疗减慢了颈动脉内膜中层厚度的发展，并降低了成年后患心血管疾病的风险。（由AMC基金会资助。）结论在这项研究中，家族性高胆固醇血症患者在儿童期开始他汀类药物治疗减慢了颈动脉内膜中层厚度的发展，并降低了成年后患心血管疾病的风险。（由AMC基金会资助。）。