Fang Zishi, Wang Dong, Ge Jian, Zhao Yunze, Lian Hongyun, Ma Honghao, Yao Jiafeng, Zhang Qing, Zhou Chenxin, Wang Wenqian, Wang Tianyou, Li Zhigang, Zhang Rui
Hematological Department, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Hematologic Disease Laboratory, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Br J Haematol. 2025 Jan;206(1):215-223. doi: 10.1111/bjh.19803. Epub 2024 Oct 10.
For autoimmune disease (AD) and autoinflammatory disease (AID)-related haemophagocytic lymphohistiocytosis (HLH) (AD/AID-HLH), there is still a lack of standardized treatment. Glucocorticoids (GCs) are the main treatment currently; however, 37.9% to 61% of patients fail to achieve effective control of HLH, making it urgent to find novel treatment strategies. We conducted a retrospective, single-centre study examining ruxolitinib (RUX)-based regimen in children with AD/AID-HLH. Patients were first treated with RUX monotherapy, and additional treatments including methylprednisolone and etoposide were added sequentially when the disease could not be controlled. The study included 26 patients with a median follow-up of 23.9 months, of whom 15 had prior treatments. The overall response rate at week 8 with the RUX-based regimen was 96.2%, with 92.3% attaining complete response (CR) and 3.9% attaining partial response. The 2-year overall survival rate was 96.2% (95% CI, 80.4% to 99.9%). During RUX monotherapy, 46.1% of patients achieved CR as the best response, with a median first response time to RUX of 2 days. Additionally, 53.8% of patients required additional GCs and 23.1% required etoposide chemotherapy. All observed adverse events were manageable and acceptable. Overall, our study supports the efficacy and safety of the RUX-based regimen in children with AD/AID-HLH.
对于自身免疫性疾病（AD）和自身炎症性疾病（AID）相关的噬血细胞性淋巴组织细胞增生症（HLH）（AD/AID-HLH），目前仍缺乏标准化治疗。糖皮质激素（GCs）是目前的主要治疗药物；然而，37.9%至61%的患者未能有效控制HLH，因此迫切需要寻找新的治疗策略。我们进行了一项回顾性单中心研究，考察了芦可替尼（RUX）方案治疗AD/AID-HLH患儿的疗效。患者首先接受RUX单药治疗，当疾病无法控制时，依次添加包括甲泼尼龙和依托泊苷在内的其他治疗。该研究纳入了26例患者，中位随访时间为23.9个月，其中15例曾接受过治疗。基于RUX方案在第8周时的总缓解率为96.2%，其中92.3%达到完全缓解（CR），3.9%达到部分缓解。2年总生存率为96.2%（95%CI，80.4%至99.9%）。在RUX单药治疗期间，46.1%的患者达到最佳反应CR，对RUX的中位首次反应时间为2天。此外，53.8%的患者需要额外的GCs，23.1%的患者需要依托泊苷化疗。所有观察到的不良事件均可控且可接受。总体而言，我们的研究支持基于RUX方案治疗AD/AID-HLH患儿的有效性和安全性。
