关键词: VEXAS综合征, 复发性多软骨炎, 自身炎症性疾病, UBA1基因突变

Abstract:

This article reports the diagnosis and therapeutic management of a 53-year-old male with VEXAS syndrome mimicking relapsing polychondritis. The patient presented with multiple subcutaneous nodules and auricular/nasal chondritis. Blood routine examination revealed leukopenia, moderate macrocytic anemia and thrombocytopenia. Inflammatory markers were elevated, including erythrocyte sedimentation rate, C-reactive protein (CRP) and interleukin-6. Serological tests were negative for antinuclear antibody (ANA), anti-extractable nuclear antigen antibody spectrum (ENA), and anti-neutrophil cytoplasmic antibody (ANCA), but positive for anticardiolipin antibodies, anti-β2-glycoprotein Ⅰ anti-bodies, and anti-phosphatidylserine-prothrombin antibodies, and screening revealed no thromboembolic events, with no evidence of infection. Genetic testing confirmed a UBA1 gene mutation in Exon 3, spe- cifically p.Met41Val (c.121A>G). Bone marrow aspiration demonstrated grade Ⅲ bone marrow hyperplasia and vacuolization of myeloid precursors without dyshematopoiesis. A skin biopsy indicated a perivascular lymphocytic infiltrate with focal dense neutrophilic infiltrates, consistent with neutrophilic dermatosis. The consultation with experts from the hematology department indicated that there was currently insufficient evidence for the diagnosis of myelodysplastic syndrome. Based on these findings, a diagnosis of VEXAS syndrome was established, with main involvements of the ears/nasal cartilage, skin, and hematopoietic system. The patient' s condition improved significantly following treatment with high-dose glucocorticoids, intravenous immunoglobulin and ruxolitinib phosphate. Throughout the scheduled follow-up period, the patient showed marked clinical improvement, with resolution of subcutaneous nodules and alleviation of swelling and pain in the auricles and nasal bridge. Hematologic parameters improved significantly, serum inflammatory markers returned to near-normal levels, and both anti-cardiolipin antibody and anti-β2-glycoprotein Ⅰ antibody turned negative. Additionally, the titer of anti-phosphatidylserine-prothrombin antibody decreased substantially. Notwithstanding substantial concerns about thrombotic risk due to positive phospholipid antibodies in the context of ruxolitinib treatment, thrombotic events were avoided with patient compliance to low-dose aspirin therapy. This case highlighted that the male patients aged over 50 years presenting with chondritis, refractory autoinflammatory manifestations, and/or unexplained hematological abnormalities, clinicians should consider bone marrow evaluation and UBA1 gene testing to promptly identify VEXAS syndrome, enabling early personalized treatment and improved outcomes.

Key words: VEXAS syndrome, Relapsing polychondritis, Auto-inflammatory diseases, UBA1 gene mutation