Fu Zhong-Chao, Ji Jing, Cheng Xiao-Gui, Shi Ran-Geng, Mo Xiao-Feng, Yang Zhi-Zhu
Department of Rheumatology and Immunology, The Third Affiliated Hospital of Shenzhen University, Shenzhen, Guangdong, China.
Department of Pharmacy, The Third Affiliated Hospital of Shenzhen University, Shenzhen, Guangdong, China.
Front Immunol. 2025 Jul 3;16:1614714. doi: 10.3389/fimmu.2025.1614714. eCollection 2025.
Systemic sclerosis (SSc) with multi-organ involvement poses significant therapeutic challenges. We present a case of rapidly progressive, refractory SSc with cardiac, musculoskeletal, and skin manifestations that was successfully managed with a combination of cyclophosphamide (CYC) and tocilizumab (TCZ). In this case, a 25-year-old female patient with rapidly progressive SSc developed severe skin sclerosis (mRSS 46), myofascial edema, myopathy (CK 923 U/L), joint flexion contractures, and pericardial effusion. Initial therapy with glucocorticoids and CYC showed limited efficacy. After therapeutic escalation to an alternating 4-week regimen (TCZ 8 mg/kg and CYC 600 mg administered sequentially every 2 weeks), pericardial effusion resolved completely, skin softening was observed (mRSS reduced to 32), and functional status improved significantly, with no significant adverse events reported. This case highlights the potential efficacy and safety of the CYC-TCZ combination therapy for refractory SSc, particularly in patients with cardiac involvement. These findings support the need for further exploration of this regimen in clinical trials.
系统性硬化症（SSc）伴多器官受累带来了重大的治疗挑战。我们报告一例快速进展、难治性SSc病例，该病例有心脏、肌肉骨骼和皮肤表现，通过环磷酰胺（CYC）和托珠单抗（TCZ）联合治疗成功得到控制。在此病例中，一名25岁快速进展性SSc女性患者出现严重皮肤硬化（改良Rodnan皮肤评分46）、肌筋膜水肿、肌病（肌酸激酶923 U/L）、关节屈曲挛缩和心包积液。初始使用糖皮质激素和CYC治疗效果有限。在治疗升级为每4周交替方案（每2周依次给予TCZ 8 mg/kg和CYC 600 mg）后，心包积液完全消退，观察到皮肤软化（改良Rodnan皮肤评分降至32），功能状态显著改善，且未报告明显不良事件。该病例突出了CYC-TCZ联合治疗难治性SSc的潜在疗效和安全性，尤其是对于有心脏受累的患者。这些发现支持在临床试验中进一步探索该方案的必要性。
