VEXAS-Syndrom – Erfolg der multidisziplinären Zusammenarbeit

In our case report, a 79-year-old man presenting with uveitis, arthritis, perichondritis, fever and small vessels vasculitis is described. Laboratory values showed persistently elevated inflammatory markers. Over a period of 1 year, his symptoms and inflammatory markers improved only with glucocorticoid treatment; however, he developed interstitial lung disease. Chest computed tomography (CT) showed parenchymal opacities. Bronchoalveolar lavage and lung biopsy demonstrated neutrophilic alveolitis and parenchymal inflammation. Based on these results, the possibility of VEXAS (vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic) syndrome was considered and later confirmed by molecular testing. VEXAS syndrome is a recently described inflammatory disease caused by mutations in the UBA1 gene. Symptoms are diverse and include fever, cartilage inflammation, pneumonia, vasculitis, and macrocytic anemia. Cytoplasmic inclusions in myeloid and erythroid progenitor cells in the bone marrow are characteristic. Here we report our first case of VEXAS syndrome.