Palcoux Jean-Bernard, Atassi-Dumont Marielle, Lefevre Patrice, Hequet Olivier, Schlienger Jean-Louis, Brignon Pierre, Roussel Bernard
Department of Pediatrics, Hôtel-Dieu, Clermont-Ferrand, France.
Ther Apher Dial. 2008 Jun;12(3):195-201. doi: 10.1111/j.1744-9987.2008.00574.x.
Twenty-seven patients (14 girls, 13 boys) affected by familial hypercholesterolemia who had begun low-density lipoprotein (LDL) apheresis treatment before the age of 15 were studied. The median age at diagnosis was 4 years and the blood LDL cholesterol level was 704 +/- 163 mg/dL. Screening was performed for homozygous or double heterozygous mutations of the LDL cholesterol receptor gene and mutations were found in 24 of the patients. The mean age at the beginning of treatment was 8.5 years and the mean length of follow up was 12.6 years. The two main procedures used were direct adsorption of lipoproteins and dextran sulfate cellulose adsorption. Nine patients experienced anaphylactic reactions due to bradykinin and six had to have their treatment changed. The LDL cholesterol level before the session was lowered by 45 +/- 11% of the value at diagnosis. The LDL cholesterol reduction in a session was 72 +/- 10%. Tendinous xanthomas disappeared or diminished dramatically in 62% of the children. In 22 patients no cardiovascular event occurred during LDL apheresis treatment. Three had angina pectoris; two others had surgical management of aortic stenosis, but no clinical manifestations. Seven children had normal cardiovascular pictures while on treatment. Eleven had abnormalities of the aortic root or coronary arteries, which in six cases had appeared before treatment; the other five children did not undergo prior cardiac evaluation. In five children the abnormalities appeared during treatment. Based on these data, LDL-apheresis can be recommended for the treatment of homozygous familial hypercholesterolemia, even in young children, with good efficiency on biological parameters, cutaneous lesions and cardiovascular events.
对27例家族性高胆固醇血症患者（14名女孩，13名男孩）进行了研究，这些患者在15岁之前就开始了低密度脂蛋白（LDL）单采治疗。诊断时的中位年龄为4岁，血液LDL胆固醇水平为704±163mg/dL。对LDL胆固醇受体基因的纯合或双重杂合突变进行了筛查，在24例患者中发现了突变。治疗开始时的平均年龄为8.5岁，平均随访时间为12.6年。使用的两种主要方法是脂蛋白直接吸附和硫酸葡聚糖纤维素吸附。9例患者因缓激肽出现过敏反应，6例患者不得不改变治疗方案。每次治疗前的LDL胆固醇水平较诊断时的值降低了45±11%。每次治疗中LDL胆固醇的降低幅度为72±10%。62%的儿童肌腱黄色瘤消失或明显缩小。在22例患者中，LDL单采治疗期间未发生心血管事件。3例患有心绞痛；另外2例接受了主动脉瓣狭窄的手术治疗，但无临床表现。7名儿童在治疗期间心血管情况正常。11例患者的主动脉根部或冠状动脉有异常，其中6例在治疗前就已出现；另外5名儿童未进行过心脏评估。5名儿童的异常情况在治疗期间出现。基于这些数据，即使是幼儿，LDL单采也可推荐用于治疗纯合子家族性高胆固醇血症，对生物学参数、皮肤病变和心血管事件有良好疗效。
