Clark Julia, Kowlessur Makshada, VanderVeer Elysha, Shojania Kamran, Au Sheila, Kim Hyein, Wong Shannon, Huang Kun
Department of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.
Arthritis Research Canada, Vancouver, British Columbia, Canada.
Medicine (Baltimore). 2025 Apr 25;104(17):e42251. doi: 10.1097/MD.0000000000042251.
Hematologic malignancies can mimic rheumatologic diseases, presenting a significant diagnostic challenge due to overlapping clinical features. This study highlights 5 cases of hematologic malignancies presenting as rheumatologic disorders and discusses the diagnostic complexities involved.
The patients, aged 64 to 78, presented with diverse rheumatologic symptoms including polyarthritis, vasculitis, Raynaud phenomenon, and systemic symptoms such as weight loss, fatigue, and night sweats. Initial workups suggested rheumatologic diagnoses, leading to delays in recognizing the underlying malignancies.
The diagnostic journey involved extensive laboratory testing, imaging, and, in all cases, bone marrow biopsies, which ultimately revealed hematologic malignancies: angioimmunoblastic T-cell lymphoma (AITL), extranodal marginal zone lymphoma, myelodysplastic syndrome (MDS), and multiple myeloma. Misleading initial findings, such as autoimmune serologies and transient responses to immunosuppressive therapy, complicated the diagnostic process.
Ultimately, the patients included in this case series benefited from hematological malignancy-specific therapies. Delayed diagnosis impacted the treatment course and outcomes.
Outcomes varied: 2 patients achieved symptom control with targeted therapy, while others experienced complications such as infections or disease progression, ultimately leading to mortality in some cases. Patient frustrations underscored the psychologic toll of diagnostic delays.
Hematologic malignancies can present as atypical or refractory rheumatologic diseases, emphasizing the need for vigilance in patients with unusual clinical courses. Early consideration of malignancy in differential diagnoses, especially with atypical serologic or histopathologic findings, is critical to improving outcomes.
血液系统恶性肿瘤可模仿风湿性疾病,因其临床特征重叠而带来重大诊断挑战。本研究重点介绍了5例表现为风湿性疾病的血液系统恶性肿瘤病例,并讨论其中涉及的诊断复杂性。
患者年龄在64岁至78岁之间,表现出多种风湿性症状,包括多关节炎、血管炎、雷诺现象,以及体重减轻、疲劳和盗汗等全身症状。初步检查提示为风湿性疾病诊断,导致对潜在恶性肿瘤的识别延迟。
诊断过程涉及广泛的实验室检查、影像学检查,且在所有病例中均进行了骨髓活检,最终揭示为血液系统恶性肿瘤:血管免疫母细胞性T细胞淋巴瘤(AITL)、结外边缘区淋巴瘤、骨髓增生异常综合征(MDS)和多发性骨髓瘤。误导性的初始检查结果,如自身免疫血清学检查和对免疫抑制治疗的短暂反应,使诊断过程复杂化。
最终,本病例系列中的患者受益于血液系统恶性肿瘤特异性治疗。诊断延迟影响了治疗过程和结果。
结果各不相同:2例患者通过靶向治疗实现了症状控制,而其他患者出现了感染或疾病进展等并发症,最终在某些情况下导致死亡。患者的沮丧凸显了诊断延迟带来的心理负担。
血液系统恶性肿瘤可表现为非典型或难治性风湿性疾病,强调对临床病程异常的患者需要保持警惕。在鉴别诊断中早期考虑恶性肿瘤,尤其是有非典型血清学或组织病理学表现时,对改善预后至关重要。