A clinical phenotype of VEXAS syndrome with pleural effusion, infiltrates, and systemic inflammation in a 76-year-old patient: a case report.

Introduction: VEXAS syndrome, characterized by a UBA1 gene mutation, is a rare and severe systemic inflammatory disease predominantly affecting men. Since its initial description in 2020, it has been noted for its broad clinical phenotype and frequent misdiagnosis. Case Presentation: A 76-year-old Caucasian male patient diagnosed with VEXAS syndrome is presented in this case report. He presented with typical symptoms including pulmonary manifestations (infiltrates and effusions), systemic inflammation, and haematological abnormalities. The diagnosis was challenging due to the disease's heterogeneous presentation, often resembling autoimmune or haematological diseases. This patient's case featured ground-glass opacities and pleural effusions, underlining the significant pulmonary involvement seen in 50–67% of VEXAS patients. His condition was further complicated by recurrent fever and systemic inflammation affecting multiple organs. Conclusion: VEXAS syndrome demands an aggressive treatment approach due to its high mortality rate and refractory nature. This case underscores the importance of including VEXAS syndrome in differential diagnoses, particularly for patients with systemic inflammation and pulmonary symptoms, and calls for multidisciplinary management and extensive research to understand its full range of clinical phenotypes. Established facts and novel insights: VEXAS syndrome is a rare systemic inflammatory disease with UBA1 gene mutation. VEXAS syndrome involves various UBA 1 gene mutations, including the p.splice c.118-1G > C. It mainly affects men, often misdiagnosed due to its broad clinical phenotype. Novel insights: Significant pulmonary involvement in VEXAS, including ground-glass opacities and pleural effusions. Patients with the same mutation exhibit a broad range of disease phenotypes A specific UBA1 mutation as the p.splice c.118-1G > C cannot be directly linked to a distinct disease phenotype Need for aggressive treatment strategies targeting the mutated clone and cytokine storms [ABSTRACT FROM AUTHOR]