Bruckert Eric
Institute of Cardiometabolism and Nutrition, Hôpital Pitié-Salpêtrière, Paris, France.
Atheroscler Suppl. 2014 Sep;15(2):26-32. doi: 10.1016/j.atherosclerosissup.2014.07.004.
Although homozygous familial hypercholesterolaemia (HoFH) is rare, patients with this disease have a poor prognosis, even when they receive the best available treatment, including pharmacotherapy and apheresis. The current therapeutic gap emphasizes the potential impact of new and developmental treatment options, which include lomitapide, mipomersen, anti-PCSK9 monoclonal antibodies and CETP inhibitors. It is imperative that patients with HoFH receive the most appropriate treatment as early as possible and clinical guidance is needed to provide clinicians with the information they require to expedite diagnosis and initiate effective treatment. Until now, however, guidance on the management of (HoFH) has generally been included as part of broader guidelines on dyslipidemia, FH or low-density lipoprotein (LDL)-apheresis and even in guidelines specifically on FH, HoFH has been under-represented. A consensus statement on recommendations for the management of HoFH has recently been published by a working group of the European Atherosclerosis Society. An outline of the content of the statement is presented in the current paper.
虽然纯合子家族性高胆固醇血症(HoFH)较为罕见,但该病患者预后较差,即便接受了包括药物治疗和血液分离术在内的最佳可用治疗也是如此。当前的治疗差距凸显了新的和正在研发的治疗方案的潜在影响,这些方案包括洛美他派、米泊美生、抗PCSK9单克隆抗体和CETP抑制剂。HoFH患者必须尽早接受最恰当的治疗,需要临床指导为临床医生提供加快诊断和启动有效治疗所需的信息。然而,迄今为止,关于HoFH管理的指导通常被纳入血脂异常、FH或低密度脂蛋白(LDL)血液分离术的更广泛指南中,甚至在专门针对FH的指南中,HoFH也未得到充分体现。欧洲动脉粥样硬化学会的一个工作组最近发表了一份关于HoFH管理建议的共识声明。本文介绍了该声明的内容概要。