Ben-Zvi Ilan, Livneh Avi
Isr Med Assoc J. 2014 May;16(5):271-3.
Familial Mediterranean fever (FMF) is a genetic auto-inflammatory disease characterized by spontaneous short attacks of fever, elevated acute-phase reactants, and serositis. Approximately 5%-10% of FMF patients do not respond to colchicine treatment and another 5% are intolerant to colchicine because of side effects. Recently, following the discovery of the inflammasome and recognition of the importance of interleukin-1beta (IL-1beta) as the major cytokine involved in the pathogenesis of FMF, IL-1beta blockade has been suggested and tried sporadically to treat FMF, with good results. To date, case reports and small case series involving colchicine-resistant FMF patients and showing high efficacy of IL-1beta blockade have been reported. At the Israel Center for FMF at the Sheba Medical Centerthe first double-blind randomized placebo-controlled trial of anakinra in FMF patients who are resistant or intolerant to colchicines is underway. In this report we discuss the mechanism of colchicine resistance in FMF patients, the data in the literature on IL1beta blockade in these patients, and the anakinra trial inclusion criteria and study protocol.
家族性地中海热（FMF）是一种遗传性自身炎症性疾病，其特征为发热的自发性短期发作、急性期反应物升高和浆膜炎。约5%-10%的FMF患者对秋水仙碱治疗无反应，另有5%因副作用而不耐受秋水仙碱。最近，随着炎性小体的发现以及认识到白细胞介素-1β（IL-1β）作为参与FMF发病机制的主要细胞因子的重要性，有人提出并偶尔尝试使用IL-1β阻断剂来治疗FMF，效果良好。迄今为止，已有涉及秋水仙碱耐药FMF患者且显示IL-1β阻断剂具有高效性的病例报告和小型病例系列报道。在谢巴医疗中心的以色列FMF中心，一项关于阿那白滞素在对秋水仙碱耐药或不耐受的FMF患者中的首次双盲随机安慰剂对照试验正在进行。在本报告中，我们讨论了FMF患者秋水仙碱耐药的机制、这些患者中关于IL-1β阻断剂的文献数据以及阿那白滞素试验的纳入标准和研究方案。
