Vestfold Indremedisinske Senter, Sandefjord, Norway.
J Clin Lipidol. 2012 Jul-Aug;6(4):331-9. doi: 10.1016/j.jacl.2012.03.004. Epub 2012 Mar 23.
Homozygous familial hypercholesterolemia (HoFH), which affects 1 in a million individuals, leads to extremely elevated levels of cholesterol and early-onset cardiovascular disease.
The aim of this study was to assess all 7 HoFH patients treated with low-density lipoprotein (LDL) apheresis in Norway with respect to quality of life, clinical and laboratory assessments, and cardiovascular status.
Apheresis treatment and assessment of cardiovascular status was performed at local hospitals but coordinated by the Lipid Clinic that has followed all patients since diagnosis. Quality of life was evaluated by a validated questionnaire.
Results are shown as median (min-max). LDL cholesterol at diagnosis (untreated) was 704 (592-1268) mg/dL (18.2 [15.3-32.8] mmol/L). Medication was initiated at age 9 (2-35) years, and apheresis treatment at age 10 (6-44) years. Regular once-weekly apheresis combined with the maximum-tolerable doses of a statin and ezetimibe reduced LDL cholesterol to 197 (170-282) mg/dL (5.1 [4.5-7.3] mmol/L) pre-apheresis and 85 (50-108) mg/dL (2.2 [1.3-2.8] mmol/L) post-apheresis. Calculated interval mean LDL cholesterol was 162 (135-220) mg/dL (4.2 [3.5-5.7] mmol/L). Duration of apheresis treatment was 11 (1-24) years. Cardiovascular manifestations progressed in most patients despite the apheresis treatment. The subjects' quality of life was comparable with that of a healthy population, with the exception of two patients, who were significantly affected by coronary disease.
Well-tolerated, once-weekly LDL apheresis achieves lower interval mean LDL cholesterol levels between apheresis treatments than previously reported for apheresis every second week. However, progressions of cardiovascular manifestations still occurred, which highlights the importance of earlier and even more aggressive treatment and follow-up in HoFH.
纯合子家族性高胆固醇血症（HoFH）影响百万分之一的个体，导致胆固醇水平极高和早发心血管疾病。
本研究旨在评估挪威接受低密度脂蛋白（LDL）吸附治疗的所有 7 名 HoFH 患者的生活质量、临床和实验室评估以及心血管状况。
在当地医院进行吸附治疗和心血管状况评估，但由脂质诊所协调，该诊所自诊断以来一直跟踪所有患者。生活质量通过验证问卷进行评估。
结果以中位数（最小值-最大值）表示。诊断时（未治疗）的 LDL 胆固醇为 704（592-1268）mg/dL（18.2 [15.3-32.8] mmol/L）。药物治疗于 9 岁（2-35 岁）开始，吸附治疗于 10 岁（6-44 岁）开始。定期每周一次的吸附治疗与最大耐受剂量的他汀类药物和依折麦布联合使用，将 LDL 胆固醇降低至吸附治疗前 197（170-282）mg/dL（5.1 [4.5-7.3] mmol/L）和吸附治疗后 85（50-108）mg/dL（2.2 [1.3-2.8] mmol/L）。计算的间隔平均 LDL 胆固醇为 162（135-220）mg/dL（4.2 [3.5-5.7] mmol/L）。吸附治疗持续时间为 11（1-24）年。尽管进行了吸附治疗，但大多数患者的心血管表现仍在进展。除了两名受冠心病严重影响的患者外，患者的生活质量与健康人群相当。
耐受良好的每周一次 LDL 吸附治疗在两次吸附治疗之间实现了比以前报告的每两周一次吸附治疗更低的间隔平均 LDL 胆固醇水平。然而，心血管表现的进展仍然发生，这突出表明在 HoFH 中需要更早且更积极的治疗和随访。
