Hudgins Lisa C, Kleinman Bryan, Scheuer Abby, White Sharon, Gordon Bruce R
The Rogosin Institute, New York, New York, USA.
Am J Cardiol. 2008 Nov 1;102(9):1199-204. doi: 10.1016/j.amjcard.2008.06.049. Epub 2008 Sep 5.
Untreated pediatric patients with homozygous familial hypercholesterolemia usually have myocardial infarctions, heart failure, or death by the teenage years. Low-density lipoprotein (LDL) apheresis effectively lowers LDL cholesterol in the short term, but there is little published information on the long-term safety and efficacy of this treatment in children. An analysis was performed of a registry of all 29 patients who began LDL apheresis before 18 years of age at 15 sites during the 11 years since approval by the United States Food and Drug Administration. A chart review of 9 patients treated at The Rogosin Institute was also performed to obtain additional details about lipid lowering, adverse events, and cardiovascular status. Of the 29 patients, 20 are currently treated, with a mean age at the start of treatment of 9 +/- 4 years (range 3 to 15) and a mean treatment duration of 6 +/- 4 years (range 2 to 21). The baseline LDL cholesterol (521 +/- 126 mg/dl) is acutely lowered by 75% and chronically lowered by 48% with biweekly sessions. Systemic adverse events have been uncommon. Atherosclerotic disease of the coronary arteries and/or aorta or aortic valve was evident by angiography and/or echocardiography in 12 patients (60%) at baseline and progressed to more severe, symptomatic disease in 6 (30%). In conclusion, LDL apheresis is well tolerated for decades by even very young pediatric patients with homozygous familial hypercholesterolemia. It effectively lowers LDL cholesterol, but target LDL levels are not achieved, and some patients will show progression of cardiovascular disease.
未经治疗的纯合子家族性高胆固醇血症儿科患者通常在青少年时期就会发生心肌梗死、心力衰竭或死亡。低密度脂蛋白（LDL）单采术在短期内可有效降低LDL胆固醇，但关于该治疗方法在儿童中的长期安全性和有效性，公开的信息很少。对美国食品药品监督管理局批准后的11年间，在15个地点开始接受LDL单采术的所有29例18岁以下患者的登记资料进行了分析。还对罗戈辛研究所治疗的9例患者进行了病历审查，以获取有关降脂、不良事件和心血管状况的更多详细信息。29例患者中，目前有20例正在接受治疗，开始治疗时的平均年龄为9±4岁（范围3至15岁），平均治疗持续时间为6±4岁（范围2至21岁）。通过每两周一次的治疗，基线LDL胆固醇（521±126mg/dl）可急性降低75%，慢性降低48%。全身性不良事件并不常见。在基线时，12例患者（60%）通过血管造影和/或超声心动图显示有冠状动脉和/或主动脉或主动脉瓣的动脉粥样硬化疾病，其中6例（30%）进展为更严重的有症状疾病。总之，即使是非常年幼的纯合子家族性高胆固醇血症儿科患者，LDL单采术也能在几十年内耐受良好。它能有效降低LDL胆固醇，但未达到目标LDL水平，且一些患者会出现心血管疾病进展。
