血友病A型伴抑制物患者免疫耐受治疗的研究进展

Research Progress on Immune Tolerance Therapy in Patients with Hemophilia A with Inhibitors

摘要: 血友病A型是一种由F8基因突变引起的X连锁隐性遗传病，严重影响患者的生活质量和治疗效果。在治疗过程中，部分患者会产生针对因子VIII的抑制物，这给常规治疗带来了诸多挑战。近年来，免疫耐受治疗(Immune Tolerance Induction, ITI)作为一种新兴且有效的治疗策略，逐渐受到临床和研究者的重视。ITI旨在通过长期输注因子VIII，促使患者的免疫系统对该因子的耐受，从而消除抑制物的产生并恢复正常的凝血功能。目前，已有多项研究探讨了免疫耐受治疗的机制、效果评估以及患者的选择标准等方面，但仍存在许多未解的问题，如最佳的治疗时机、疗效的个体差异以及治疗相关的不良反应等。本文将系统性地综述血友病A型伴抑制物患者的免疫耐受治疗的研究进展，以期为临床实践提供参考并展望未来的研究方向。

Abstract: Hemophilia A is an X-linked recessive genetic disorder caused by mutations in the F8 gene, significantly impacting patients’ quality of life and treatment outcomes. During treatment, some patients develop inhibitors against factor VIII, posing substantial challenges to conventional therapies. In recent years, immune tolerance induction (ITI) has emerged as an effective treatment strategy, garnering increasing attention from clinicians and researchers. ITI aims to induce immune tolerance to factor VIII through long-term infusion, thereby eliminating inhibitor production and restoring normal coagulation function. Numerous studies have explored the mechanisms, efficacy evaluation, and patient selection criteria for ITI. However, several unresolved issues remain, such as the optimal timing for treatment, individual variability in efficacy, and treatment-related adverse effects. This article systematically reviews the research progress on immune tolerance therapy in patients with hemophilia A with inhibitors, aiming to provide insights for clinical practice and future research directions.