Zeisbrich Markus, Schindler Viktoria, Krausz Máté, Proietti Michele, Mrovecova Pavla, Voll Reinhard E, Glaser Cornelia, Röther Fabian, Warnatz Klaus, Venhoff Nils
Klinik für Rheumatologie und Klinische Immunologie, Vaskulitis-Zentrum Freiburg, Universitätsklinikum Freiburg, Medizinische Fakultät, Albert-Ludwigs-Universität Freiburg, Freiburg, Deutschland.
Klinik für Rheumatologie und Klinische Immunologie, Universitätsklinikum Freiburg, Hugstetter Str. 55, 79106, Freiburg, Deutschland.
Z Rheumatol. 2024 Apr;83(3):229-233. doi: 10.1007/s00393-023-01318-5. Epub 2023 Feb 3.
An adult-onset autoinflammatory syndrome caused by somatic mutations in the UBA1 gene on the X chromosome was first reported in 2020. This VEXAS syndrome (acronym for vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic) is characterized by an overlap of rheumatic inflammatory diseases with separate hematologic abnormalities. A substantial number of affected patients suffer from treatment refractory relapsing polychondritis and nearly always show signs of macrocytic anemia. This case report illustrates the diagnostic key points to recognizing patients with VEXAS syndrome.
2020年首次报道了一种由X染色体上UBA1基因的体细胞突变引起的成人发病的自身炎症综合征。这种VEXAS综合征（空泡、E1酶、X连锁、自身炎症、体细胞的首字母缩写）的特征是风湿性炎症疾病与单独的血液学异常重叠。大量受影响的患者患有治疗难治性复发性多软骨炎，几乎总是表现出大细胞性贫血的迹象。本病例报告阐述了识别VEXAS综合征患者的诊断要点。
