Devkota Shritik, Adhikari Sugat, Lamichhane Samiksha, Adhikari Dipendra, Bika Bhola, Choudhary Shayeri Roy, Bhalla Tajinder
Department of Radiodiagnosis and Imaging Anil Baghi Hospital Punjab India.
Shreegaun Primary Health Care Center Dang Nepal.
Clin Case Rep. 2024 Apr 30;12(5):e8822. doi: 10.1002/ccr3.8822. eCollection 2024 May.
Hemophilic pseudotumors are rare complications occurring in individuals with severe hemophilia, characterized by progressive cystic swellings in muscles and/or bones due to recurrent bleeding. Timely initiation of factor VIII replacement is crucial.
Hemophilic pseudotumors are rare complications occurring in individuals with severe hemophilia, characterized by progressive cystic swellings in muscles and/or bones due to recurrent bleeding. Although their incidence has decreased with the advent of factor VIII replacement therapy, they still create challenges, particularly in regions with limited access to medical care. Here, we present a case report of a hemophilic pseudotumor of the knee joint in a 15-year-old male with hemophilia A. The patient presented with severe left knee pain, swelling, and restricted range of motion, prompting further investigation. Imaging studies revealed lytic lesions, and MRI bone signal changes consistent with hemophilic pseudotumors. Prompt initiation of factor VIII replacement therapy and supportive management led to a significant improvement in symptoms and joint functionality. Follow-up after 2 months showed that the swelling had significantly reduced in size, with marked improvement in the functionality of the knee joint. This case confirms what is already known in the hemophilia literature: how important it is to prevent, diagnose, and treat pseudotumors early in hemophilia. However, longer clinical and imaging follow-up of this case is necessary to determine whether the complaints associated with pseudotumors resolve with hematologic treatment or will require surgical treatment.
血友病性假肿瘤是严重血友病患者罕见的并发症，其特征为因反复出血导致肌肉和/或骨骼出现进行性囊性肿胀。及时开始补充凝血因子VIII至关重要。
血友病性假肿瘤是严重血友病患者罕见的并发症，其特征为因反复出血导致肌肉和/或骨骼出现进行性囊性肿胀。尽管随着凝血因子VIII替代疗法的出现，其发病率有所下降，但它们仍然带来挑战，尤其是在医疗服务可及性有限的地区。在此，我们报告一例15岁男性甲型血友病患者膝关节血友病性假肿瘤的病例。患者出现严重的左膝疼痛、肿胀及活动范围受限，促使进一步检查。影像学检查显示溶骨性病变，磁共振成像（MRI）骨信号改变符合血友病性假肿瘤。及时开始凝血因子VIII替代疗法及支持治疗使症状和关节功能有显著改善。2个月后的随访显示肿胀大小显著减小，膝关节功能明显改善。该病例证实了血友病文献中已有的认识：在血友病中早期预防、诊断和治疗假肿瘤非常重要。然而，需要对该病例进行更长时间的临床和影像学随访，以确定与假肿瘤相关的症状是否通过血液学治疗得以解决，还是需要手术治疗。
