这份病例报告介绍了一名70多岁的男子的诊断旅程,他经历了呼吸急促,咳嗽,反复发作的发热,减肥,瘙痒性红皮病,葡萄膜炎和大细胞性贫血。隐源性器官性肺炎的初步诊断是根据肺部CT扫描中所见的抗生素难治性浸润进行的。患者最初对免疫抑制反应良好,但当皮质类固醇剂量逐渐减少时,症状复发。尽管持续的全身性炎症和难治性症状,花了将近一年的时间来确定VEXAS(空泡,E1酶,X-linked,自身炎症和躯体)综合征。这个案例突出了诊断和管理VEXAS综合征的挑战,由于其最近的发现和医学界的认识有限,以及需要将该综合征视为治疗难治性肺浸润的罕见鉴别诊断。
This case report presents the diagnostic journey of a man in his mid-70s who experienced shortness of breath, cough, recurrent episodes of fever, weight loss, pruritic erythroderma, uveitis and macrocytic anaemia. The initial diagnosis of cryptogenic organising pneumonia was made based on antibiotic refractory infiltrates seen in the lung CT scan. The patient initially responded favourably to immunosuppression but experienced a recurrence of symptoms when the corticosteroid dose was tapered. Despite ongoing systemic inflammation and refractory symptoms, it took nearly a year to establish the diagnosis of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic) syndrome. This case highlights the challenges in diagnosing and managing VEXAS syndrome due to its recent discovery and limited awareness in the medical community, as well as the need to consider this syndrome as a rare differential diagnosis of therapy-refractory pulmonary infiltrates.