一名83岁的男子,有不明意义的单克隆丙种球蛋白病病史,大细胞性贫血,他的左手出现了出血性大疱,伴有间歇性发烧和关节痛.实验室检查结果提示贫血,平均红细胞体积升高,血小板减少症,白细胞减少症,和高C反应蛋白水平。大疱活检显示嗜中性皮肤病,胸部计算机断层扫描显示肺部混浊和纵隔淋巴结肿大,提示嗜中性粒细胞性肺泡炎.骨髓检查发现细胞增多伴髓样和组织细胞增生,空泡前体,和3%的未成熟粒单核细胞谱系的母细胞。基因检测发现了等位基因频率为81%的UBA1突变,确认VEXAS综合征的诊断。从泼尼松开始治疗,开始于每天60毫克,逐渐减少至10毫克,托珠单抗考虑未来的症状管理。这个方案成功地维持了缓解,正如在后续任命中观察到的那样。该病例突出了VEXAS综合征的诊断复杂性和有效管理,强调基因检测在指导治疗决策中的重要性。
VEXAS综合征,最初在2020年被发现,是一种罕见的疾病,其特征是血液学和风湿病重叠,主要影响中老年男性。我们的病例提供了一个独特的VEXAS综合征,具有炎症症状以及全血细胞减少症和未知意义的单克隆丙种球蛋白病的历史,突出了这种情况的不同临床谱。通过骨髓活检证实了诊断,发现髓样前体有空泡和UBA1突变,重申VEXAS综合征的诊断标准。管理挑战依然存在,目前的治疗方案仅限于糖皮质激素缓解症状,强调需要进一步研究靶向治疗如鲁索替尼,以改善患者预后.
An 83-year-old man with a history of monoclonal gammopathy of unknown significance, macrocytic anemia, and cytopenias presented with hemorrhagic bullae on his left hand, alongside intermittent fevers and joint pain. Laboratory findings indicated anemia, elevated mean corpuscular volume, thrombocytopenia, leukopenia, and a high C-reactive protein level. A biopsy of the bullae showed neutrophilic dermatosis, and computed tomography scans of the thorax revealed lung opacities and mediastinal lymphadenopathy, suggesting neutrophilic alveolitis. Bone marrow examination found hypercellularity with myeloid and histiocytic hyperplasia, vacuolated precursors, and 3% blasts of an immature myelomonocytic lineage. Genetic testing uncovered a UBA1 mutation at an 81% allele frequency, confirming a diagnosis of VEXAS syndrome. Treatment commenced with prednisone, initiated at 60 mg daily and tapered to 10 mg, with tocilizumab considered for future symptom management. This regimen has successfully maintained remission, as observed in follow-up appointments. This case highlights the diagnostic complexity and effective management of VEXAS syndrome, underscoring the importance of genetic testing in guiding treatment decisions.
VEXAS syndrome, initially identified in 2020, is a rare disease characterized by overlapping hematologic and rheumatologic conditions, primarily affecting middle-aged to older men.Our case presents a unique instance of VEXAS syndrome, featuring inflammatory symptoms alongside pancytopenia and a history of monoclonal gammopathy of unknown significance, highlighting the diverse clinical spectrum of this condition.The diagnosis was confirmed through bone marrow biopsy revealing
vacuoles in myeloid precursors and a UBA1 mutation, reaffirming the diagnostic criteria outlined for VEXAS syndrome.Management challenges persist, with current treatment options limited to glucocorticoids for symptomatic relief, underscoring the need for further research into targeted therapies such as ruxolitinib to improve patient outcomes.