Tancer Stephanie, Rodgers Kyla, Fullen Douglas, Kahlenberg J Michelle
Rheumatology, University of Michigan Michigan Medicine, Ann Arbor, Michigan, USA.
Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA.
BMJ Case Rep. 2025 Jan 4;18(1):e261174. doi: 10.1136/bcr-2024-261174.
A man in his 60s suffered from refractory, biopsy-proven subacute cutaneous lupus erythematosus that required chronic, moderate dose steroids to manage. His rash was accompanied by arthralgias and negative autoantibody testing. His subacute lupus erythematosus (SCLE) was responsive to tofacitinib, but thrombotic complications limited the use of this medication. He continued prednisone 20 mg daily to manage his symptoms until treatment with anifrolumab completely cleared his skin. During a subsequent prednisone taper, he developed a macrocytic anaemia and elevated liver function tests that continued to progress. Ultimately, a bone marrow biopsy and myeloid next-generation sequencing revealed cellular vacuoles and UBA1 gene mutation, respectively, consistent with a diagnosis of VEXAS (acuoles, 1 enzyme, -linked, utoinflammatory, omatic) syndrome. We believe the chronic steroid use to control his SCLE masked the underlying diagnosis for many years.
一名60多岁的男性患有经活检证实的难治性亚急性皮肤型红斑狼疮，需要长期服用中等剂量的类固醇进行治疗。他的皮疹伴有关节痛，自身抗体检测呈阴性。他的亚急性皮肤型红斑狼疮（SCLE）对托法替布有反应，但血栓形成并发症限制了这种药物的使用。他继续每天服用20毫克泼尼松来控制症状，直到使用阿尼鲁单抗完全清除他的皮肤症状。在随后逐渐减少泼尼松用量的过程中，他出现了大细胞性贫血和肝功能检查指标升高，且持续进展。最终，骨髓活检和髓系下一代测序分别显示出细胞空泡和UBA1基因突变，这与VEXAS（空泡、1种酶、连锁、自身炎症、体细胞）综合征的诊断一致。我们认为，多年来用于控制他的SCLE的长期类固醇使用掩盖了潜在的诊断。
