Salas Sánchez Marta, García-Martínez Elena, Balastegui Martín Héctor, Durán-García María Esther, Lavilla Olleros Cristina
Department of Internal Medicine, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Immunology Department, Hospital General Universitario Gregorio Marañón, Madrid, Spain.
Front Immunol. 2025 Jun 5;16:1591234. doi: 10.3389/fimmu.2025.1591234. eCollection 2025.
Cryopyrin-associated periodic syndrome is a rare autoinflammatory syndrome caused by a dysregulation of cytokine signaling pathways, particularly of the interleukin-1β production. Symptoms typical appear early in life and include recurrent fever, arthralgia, and cutaneous rash, often accompanied by systemic manifestations and progressive end-organ damage resulting from chronic inflammation. Interleukin- targeted therapy constitutes the basis for treatment, and can lead to complete resolution of symptoms. We report a case of a 66-year-old man with cryopyrin-associated periodic syndrome related to V198M mutation, successfully treated with anakinra, an interleukin- 1 inhibitor frequently used in rheumatoid arthritis.
冷吡啉相关周期性综合征是一种罕见的自身炎症性综合征，由细胞因子信号通路失调引起，尤其是白细胞介素-1β产生的失调。症状通常在生命早期出现，包括反复发热、关节痛和皮疹，常伴有全身表现以及慢性炎症导致的进行性终末器官损害。针对白细胞介素的治疗是治疗的基础，可使症状完全缓解。我们报告一例66岁男性冷吡啉相关周期性综合征病例，该病例与V198M突变有关，使用类风湿关节炎常用的白细胞介素-1抑制剂阿那白滞素成功治疗。
