Klinik Dr Khoo Kah Lin, Kuala Lumpur, Malaysia; Cardiology Department, Sentosa Medical Centre, Kuala Lumpur, Malaysia.
Lipid Disorders Clinic, Department of Cardiology, Royal Perth Hospital, Perth, Western Australia, Australia; Department of Clinical Biochemistry, PathWest Laboratory Medicine, Fiona Stanley Hospital, Murdoch, Australia.
J Clin Lipidol. 2016 Sep-Oct;10(5):1188-94. doi: 10.1016/j.jacl.2016.05.006. Epub 2016 May 13.
Familial hypercholesterolemia (FH) leads to premature coronary artery disease and aortic stenosis, with undertreated severe forms causing death at a young age. Lipoprotein apheresis (LA) is often required for lowering low-density lipoprotein cholesterol levels in severe FH.
The objective of this study was to present the first experiences with LA in Malaysia, between 2004 and 2014.
We retrospectively collected data from patient records to assess the effectiveness, adverse effects, patient quality of life, and costs associated with an LA service for genetically confirmed homozygous and heterozygous FH.
We treated 13 women and 2 men aged 6 to 59 years, 10 with homozygous and 5 with heterozygous FH, all on maximally tolerated cholesterol-lowering drug therapy, for a total of 65 patient-years. Acute lowering of low-density lipoprotein cholesterol post apheresis was 56.3 ± 7.2%, with time-averaged mean lowering of 34.9 ± 13.9%. No patients experienced any cardiovascular events during the period of receiving LA. Patients receiving LA experienced few side effects and enjoyed reasonable quality of life, but inability to continue treatment was frequent because of cost.
LA for severe FH can be delivered effectively in the short term in developing nations, but costs are a major barrier to sustaining this mode of treatment for this high-risk group of patients. New drug therapies for FH, such as the proprotein convertase subtilisin/kexin type 9 inhibitors, microsomal triglyceride transfer protein inhibitors, and apolipoprotein-B100 antisense oligonucleotides may allow improved care for these patients, but costs and long-term safety remain as issues to be addressed.
家族性高胆固醇血症（FH）可导致早发冠状动脉疾病和主动脉瓣狭窄，未经治疗的严重形式可导致患者在年轻时死亡。脂蛋白吸附（LA）常用于降低严重 FH 患者的低密度脂蛋白胆固醇水平。
本研究旨在报告 2004 年至 2014 年期间马来西亚首次使用 LA 的经验。
我们回顾性地从患者病历中收集数据，以评估 LA 服务对经基因证实的纯合子和杂合子 FH 患者的有效性、不良反应、患者生活质量和成本。
我们共治疗了 13 名女性和 2 名男性，年龄为 6 至 59 岁，10 名为纯合子 FH，5 名为杂合子 FH，均接受了最大耐受剂量的降脂药物治疗，共 65 患者年。LA 后 LDL 胆固醇的急性降低率为 56.3±7.2%，平均时间内的平均降低率为 34.9±13.9%。在接受 LA 的期间，没有患者发生任何心血管事件。接受 LA 的患者不良反应少，生活质量良好，但由于费用问题，频繁中断治疗。
在发展中国家，LA 可在短期内有效治疗严重 FH，但费用是维持这种高危患者治疗模式的主要障碍。FH 的新型药物治疗方法，如前蛋白转化酶枯草溶菌素/kexin 9 抑制剂、微粒体甘油三酯转移蛋白抑制剂和载脂蛋白 B100 反义寡核苷酸，可能为这些患者提供更好的治疗，但费用和长期安全性仍是需要解决的问题。
