Di Centa Laura, Longhino Simone, Manfrè Valeria, Sacco Stefania, Quartuccio Luca
Division of Rheumatology, Department of Medicine, University of Udine, Academic Hospital "Santa Maria della Misericordia,", Udine, Italy.
ACR Open Rheumatol. 2025 Jun;7(6):e70064. doi: 10.1002/acr2.70064.
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a rare disorder caused by somatic UBA1 gene mutations, characterized by autoinflammation and hematologic abnormalities, particularly affecting myeloid-lineage progenitors. Sensitive markers include macrocytic anemia, vacuolization of bone marrow precursors, and myelodysplasia. Here, we report the first case of VEXAS syndrome presenting with neutrophilic dermatosis and a serum monoclonal component, without myeloid-lineage hematologic abnormalities atonset. This case underscores the importance of including VEXAS syndrome in the differential diagnosis when monoclonal gammopathy is associated with rheuamtologic features, particularly in older patients presenting with unexplained cutaneous inflammatory manifestations and a serum clonal component, as such presentations may precede the development of classical hematologic abnormalities.
VEXAS(空泡、E1酶、X连锁、自身炎症性、体细胞)综合征是一种由体细胞UBA1基因突变引起的罕见疾病,其特征为自身炎症和血液学异常,尤其影响髓系祖细胞。敏感标志物包括大细胞贫血、骨髓前体细胞空泡化和骨髓发育异常。在此,我们报告首例VEXAS综合征病例,该病例以嗜中性皮病和血清单克隆成分表现,起病时无髓系血液学异常。该病例强调,当单克隆丙种球蛋白病与风湿性特征相关时,尤其是在出现无法解释的皮肤炎症表现和血清克隆成分的老年患者中,在鉴别诊断中纳入VEXAS综合征的重要性,因为此类表现可能先于经典血液学异常的出现。