背景:液泡,E1酶,X-linked,自身炎症,躯体综合征是一种新发现的影响男性受试者的炎症性疾病,文献中很少有数据。这里,我们描述了一个已知的Sweet综合征患者入院重症监护病房的情况,E1酶,X-linked,自身炎症,躯体综合征被诊断出来,允许适当的治疗和病人的出院和恢复。
方法:一名70岁男性白人患者在院内心脏骤停后在重症监护病房住院。病史始于一年前,反复发生深静脉血栓形成和皮肤爆发发作,与Sweet综合征相符。口服类固醇一疗程后,发烧和炎症综合征复发与多软骨炎的发作,上巩膜炎伴有神经症状和肺浸润。在患者的新调查中发生了院内缺氧心脏骤停,他在危急状态下被录取。在重症监护室逗留期间,他双脚出现了livedoid皮肤损伤。血管炎未被证实;然而,冷球蛋白血症筛查呈阳性.使用骨髓造影抽吸物探索全血细胞减少症的发作。它显示了红系和髓系前体中的脊髓发育不良和液泡的迹象。值得注意的是,新的深静脉血栓形成,尽管接受了肝素治疗,导致肝素诱导的血小板减少症的诊断。症状的过程是多个实体重叠,因此实施了多学科团队讨论。血液中UBA1突变筛查呈阳性,确认空泡,E1酶,X-linked,自身炎症,和躯体综合症。开始进行皮质类固醇和抗IL1输注,结果令人满意,支持患者从重症监护病房出院到内科病房。
结论:液泡,E1酶,X-linked,自身炎症,出现炎症症状的男性患者应怀疑躯体综合征,比如发烧,皮肤喷发,软骨炎,静脉血栓栓塞,和骨髓前体中的空泡。未确诊的空泡患者,E1酶,X-linked,自身炎症,躯体综合症可能会出现器官衰竭,需要在重症监护病房住院,当病史令人回味时,应进行UBA1突变筛查。强烈建议多学科团队参与患者管理,特别是开始适当的免疫抑制治疗。
BACKGROUND: Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome is a newly discovered inflammatory disease affecting male subjects, for which few data exist in the literature. Here, we describe the
case of a patient with known Sweet\'s syndrome admitted to the intensive care unit and for whom a
vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome was diagnosed, allowing for appropriate treatment and the patient\'s discharge and recovery.
METHODS: A 70-year-old male White patient was hospitalized in the intensive care unit following an intrahospital cardiac arrest. History started a year before with repeated deep vein thrombosis and episodes of skin eruption compatible with Sweet\'s syndrome. After a course of oral steroids, fever and inflammatory syndrome relapsed with onset of polychondritis, episcleritis along with neurological symptoms and pulmonary infiltrates. Intrahospital hypoxic cardiac arrest happened during patient\'s new investigations, and he was admitted in a critical state. During the intensive care unit stay, he presented with livedoid skin lesions on both feet. Vasculitis was not proven; however, cryoglobulinemia screening came back positive. Onset of pancytopenia was explored with a myelogram aspirate. It showed signs of dysmyelopoiesis and
vacuoles in erythroid and myeloid precursors. Of note, new deep vein thrombosis developed, despite being treated with heparin leading to the diagnosis of heparin-induced thrombocytopenia. The course of symptoms were overlapping multiple entities, and so a multidisciplinary team discussion was implemented. Screening for UBA1-mutation in the blood came back positive, confirming the vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome. Corticosteroids and anti-IL1 infusion were started with satisfactory results supporting patient\'s discharge from intensive care unit to the internal medicine ward.
CONCLUSIONS: Vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome should be suspected in male patients presenting with inflammatory symptoms, such as fever, skin eruption, chondritis, venous thromboembolism, and vacuoles in bone marrow precursors. Patients with undiagnosed vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic syndrome may present with organ failure requiring hospitalization in intensive care unit, where screening for UBA1 mutation should be performed when medical history is evocative. Multidisciplinary team involvement is highly recommended for patient management, notably to start appropriate immunosuppressive treatments.