Department of Internal Medicine, Hôpital de la Croix-Rousse, 93, Grande-Rue de la Croix-Rousse, 69317 Lyon Cedex 04, France.
Joint Bone Spine. 2013 Dec;80(6):645-9. doi: 10.1016/j.jbspin.2013.03.004. Epub 2013 Aug 6.
Familial Mediterranean fever is an autosomal-recessive autoinflammatory disorder more commonly observed in Mediterranean populations and characterized by recurrent episodes of fever, serositis, myalgia and arthritis. There is rarely any association with spondyloarthritis. The most important long-term complication is progressive systemic type AA amyloidosis. Treatment with colchicine is effective in reducing the frequency of attacks and prevents the development of amyloidosis. However, 5% of cases are considered resistant to colchicine. We here describe the case of a 39-year-old man, with a history of arthritis, arthralgias, and sacroiliitis in the course of a familial Mediterranean fever. He is homozygous for the M694I mutation in the MEFV gene. He subsequently developed myositis of the right quadriceps muscle confirmed by magnetic resonance imaging, electromyography and histology. He had frequent and severe arthralgias, despite colchicine, then etanercept and adalimumab, impairing his quality of life. The patient was successfully treated with the IL-1 receptor antagonist anakinra with a dramatic improvement of muscular and articular symptoms. To our knowledge, our patient is the first patient with coexisting FMF, spondyloarthritis and myositis responding to anakinra treatment. Moreover this is the second case in the literature of myositis associated with familial Mediterranean fever.
家族性地中海热是一种常染色体隐性自身炎症性疾病，多见于地中海人群，其特征是反复发作的发热、浆膜炎、肌痛和关节炎。很少与脊柱关节炎有关。最重要的长期并发症是进行性系统性 AA 淀粉样变性。秋水仙碱治疗可有效减少发作频率，并预防淀粉样变性的发生。然而，约有 5%的病例被认为对秋水仙碱有耐药性。我们在此描述了 1 例 39 岁男性患者，其病史包括关节炎、关节痛和家族性地中海热过程中的骶髂关节炎。他携带 MEFV 基因中的 M694I 突变纯合子。随后他出现了右侧股四头肌肌炎，磁共振成像、肌电图和组织学检查均证实了这一点。尽管他接受了秋水仙碱、依那西普和阿达木单抗治疗，但仍频繁且严重地出现关节痛，生活质量受损。患者接受白细胞介素-1 受体拮抗剂阿那白滞素治疗后症状明显改善。据我们所知，我们的患者是首例同时存在家族性地中海热、脊柱关节炎和肌炎并对阿那白滞素治疗有反应的患者。此外，这是文献中第二例与家族性地中海热相关的肌炎病例。
