Division of Rheumatology, Department of Internal Medicine, School of Medicine, Kocaeli University, Kocaeli, Turkey.
Division of Medical Genetics, Department of Internal Medicine, School of Medicine, Istanbul University, Istanbul, Turkey.
Int J Rheum Dis. 2024 Jan;27(1):e14857. doi: 10.1111/1756-185X.14857. Epub 2023 Aug 14.
Hyperimmunoglobulin D syndrome (HIDS) is a rare autoinflammatory disorder with autosomal recessive inheritance. It is caused by specific mutations in the mevalonate kinase gene (MVK). No treatment specific to HIDS has been approved to date; however, nonsteroidal anti-inflammatory drugs, steroids, colchicine, tumor necrosis factor-α inhibitors, and anti-interleukin-1 treatments are used, based on case reports and observational studies. Herein, we report a case with recurrent fever and arthritis attacks who did not respond to anakinra and was successfully treated with canakinumab. Long-term remission was achieved without any side effects with 300 mg canakinumab treatment every 4 weeks for 5 years.
高免疫球蛋白 D 血症（HIDS）是一种罕见的常染色体隐性遗传性自身炎症性疾病。它是由甲羟戊酸激酶基因（MVK）的特定突变引起的。迄今为止，尚无针对 HIDS 的特定治疗方法；然而，根据病例报告和观察性研究，使用了非甾体抗炎药、类固醇、秋水仙碱、肿瘤坏死因子-α抑制剂和抗白细胞介素-1 治疗。在此，我们报告了一例复发性发热和关节炎发作的患者，对阿那白滞素无反应，并用卡那单抗成功治疗。用 300mg 卡那单抗每 4 周治疗 5 年，无任何副作用，实现了长期缓解。
