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欧洲抗风湿病联盟及美国风湿病学会关于IL-1介导的自身炎症性疾病(CAPS、TRAPS、MKD和DIRA)诊疗指南解读

周煜 宋红梅

周煜, 宋红梅. 欧洲抗风湿病联盟及美国风湿病学会关于IL-1介导的自身炎症性疾病(CAPS、TRAPS、MKD和DIRA)诊疗指南解读[J]. 协和医学杂志, 2023, 14(2): 271-277. doi: 10.12290/xhyxzz.2023-0043
引用本文: 周煜, 宋红梅. 欧洲抗风湿病联盟及美国风湿病学会关于IL-1介导的自身炎症性疾病(CAPS、TRAPS、MKD和DIRA)诊疗指南解读[J]. 协和医学杂志, 2023, 14(2): 271-277. doi: 10.12290/xhyxzz.2023-0043
ZHOU Yu, SONG Hongmei. Interpretation on the 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist[J]. Medical Journal of Peking Union Medical College Hospital, 2023, 14(2): 271-277. doi: 10.12290/xhyxzz.2023-0043
Citation: ZHOU Yu, SONG Hongmei. Interpretation on the 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist[J]. Medical Journal of Peking Union Medical College Hospital, 2023, 14(2): 271-277. doi: 10.12290/xhyxzz.2023-0043

欧洲抗风湿病联盟及美国风湿病学会关于IL-1介导的自身炎症性疾病(CAPS、TRAPS、MKD和DIRA)诊疗指南解读

doi: 10.12290/xhyxzz.2023-0043
基金项目: 

国家重点研发计划 2021YFC2702001

中央高水平医院临床科研专项基金 2022-PUMCH-B-079

北京市自然科学基金 L202050

详细信息
    通讯作者:

    宋红梅, E-mail:songhm1021@126.com

  • 中图分类号: R593.2

Interpretation on the 2021 EULAR/American College of Rheumatology Points to Consider for Diagnosis, Management and Monitoring of the Interleukin-1 Mediated Autoinflammatory Diseases: Cryopyrin-Associated Periodic Syndromes, Tumour Necrosis Factor Receptor-Associated Periodic Syndrome, Mevalonate Kinase Deficiency, and Deficiency of the Interleukin-1 Receptor Antagonist

Funds: 

National Key Research and Development Program of China 2021YFC2702001

National High Level Hospital Clinical Research Funding 2022-PUMCH-B-079

Beijing Natural Science Foundation L202050

More Information
  • 摘要: 白细胞介素1(interleukin-1,IL-1)介导的自身炎症性疾病是以IL-1生成增多或通路激活为特征的一大类自身炎症性疾病,主要包括家族性地中海热、冷炎素相关周期性综合征、肿瘤坏死因子受体相关周期性综合征、甲羟戊酸激酶缺乏症以及IL-1受体抑制剂缺陷。此类疾病起病早,受累器官广泛,若未经有效治疗,可导致进行性器官损伤、多种并发症甚至死亡。2016年,欧洲抗风湿病联盟已发布针对家族性地中海热的诊疗推荐意见。为提高该类疾病的诊断能力、治疗及长期管理效果,欧洲抗风湿病联盟及美国风湿病学会于2022年共同发布了针对其他4类疾病的诊疗指南。本文将详细介绍该指南要点,以期指导临床实践。
    作者贡献:周煜负责查阅文献、撰写论文;宋红梅负责指导论文修订。
    利益冲突:所有作者均声明不存在利益冲突
  • 表  1  FDA或EMA批准用于儿童IL-1相关自身炎症性疾病的IL-1拮抗剂及其用法

    疾病 药物 推荐剂量 FDA EMA
    CAPS
      轻型 卡那单抗 2~8 mg/kg,每8周1次(最大600 mg)
    利纳西普 起始剂量4.4 mg/kg,每周1次(最大320 mg) 维持剂量2.2 mg/kg,每周1次(最大160 mg) ×
      中型 阿那白滞素 1~2 mg/kg,每日1次 ×
    卡那单抗 2~8 mg/kg,每8周1次(最大600 mg)
    利纳西普 起始剂量4.4 mg/kg,每周1次(最大320 mg) 维持剂量2.2 mg/kg,每周1次(最大160 mg) ×
      重型 阿那白滞素 1~8 mg/kg,每日1次 ×
    阿那白滞素 1~8 mg/kg,每日1次
    卡那单抗 2~8 mg/kg,每4周1次(最大600 mg) ×
    TRAPS 卡那单抗 2~4 mg/kg,每4周1次(最大300 mg)
    MKD 卡那单抗 2~4 mg/kg,每4周1次(最大300 mg)
    DIRA 阿那白滞素 1~8 mg/kg,每日1次 ×
    利纳西普 4.4 mg/kg,每周1次(最大320 mg) ×
    注:√表示已批准,×表示未批准;FDA:美国食品药品监督管理局;EMA:欧洲药品管理局;IL-1:白细胞介素-1;CAPS:冷炎素相关周期性综合征;TRAPS:肿瘤坏死因子受体相关周期性综合征;MKD:甲羟戊酸激酶缺乏症;DIRA:白细胞介素-1受体抑制剂缺陷
    下载: 导出CSV

    表  2  IL-1介导的自身炎症性疾病随诊推荐评估项目及其间隔时间

    项目 具体内容 间隔时间
    (1)系统炎症指标
    针对4种疾病 红细胞沉降率、C反应蛋白、血常规+分类、S100、血清淀粉样蛋白、肝脾肿大、淋巴结肿大、乏力症状 每次复诊时
    蛋白尿 每6~12个月
    生长情况(身高、体质量)/青春期发育情况 每次复诊时
    (2)疾病特异性症状及其结局
    CAPS 发热、皮疹(荨麻疹样)、耳聋、头痛、晨起头痛及呕吐、肌肉骨骼症状、结膜炎、认知水平发育情况 每次复诊时
    TRAPS 发热、皮疹(游走性)、眶周水肿、疼痛(腹痛、胸痛、睾丸疼痛)、肌痛 每次复诊时
    MKD 周期性发热情况、皮疹(荨麻疹或斑丘疹)、胃肠道症状(腹痛、腹泻、呕吐)、颈部淋巴结肿大、阿弗他溃疡、认知损害 每次复诊时
    DIRA 脓疱性银屑病样皮疹、肌肉骨骼疼痛、指甲改变 每次复诊时
    针对4种疾病 生活质量评估、医师总体评估、患者或家长总体评估、误工/停学时间 每次复诊时
    (3)器官/系统损伤
    CAPS 肾脏(关注淀粉样变):尿液分析 每次复诊时
    耳(关注听力):听力检测 每3~6个月稳定后每6~12个月
    眼部疾病:眼科检查(视力、视野、视网膜等) 每6~12个月
    中枢神经系统:腰椎穿刺、头部MRI(评估耳蜗,是否存在脑萎缩、脑室扩大等) 每12~36个月/按需
    骨骼:四肢MRI、长度 每12~36个月/按需
    TRAPS 肾脏(关注淀粉样变):尿液分析 每次复诊时
    骨骼:四肢MRI、X线片 每12~36个月/按需
    MKD 肾脏(关注淀粉样变):尿液分析 每次复诊时
    眼部疾病:眼科检查 按需
    神经系统:神经心理测试 按需
    DIRA 骨骼:脊柱MRI,四肢X线片或MRI 按需
    (4)治疗相关并发症
    感染 临床表现,尤其注意有无皮肤感染 每次复诊时
    IL-1抑制剂相关 血常规+分类、尿常规、肝肾功能、血脂 每次复诊时
    激素相关(若应用激素) 血常规+分类、肝肾功能、血压、血脂、库欣综合征容貌
    眼压、视力、眼前节病变
    骨密度、25羟维生素D
    每次复诊时
    每3~6个月
    每6~12个月
    IL-1、CAPS、TRAPS、MKD、DIRA、FDA、EMA:同表 1
    下载: 导出CSV
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  • 收稿日期:  2023-01-18
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