The following is a summary of “Pulmonary manifestations in VEXAS syndrome,” published in the April 2023 issue of Pulmonology by Moura, et al.
A multisystem condition known as vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is brought on by somatic mutations in the UBA1 gene. The study presented a retrospective cohort analysis of 45 male patients with VEXAS syndrome, a recently discovered multisystem disorder caused by somatic mutations in the UBA1 gene. The patients were evaluated at the study institution between June 2020 and May 2022. Before being diagnosed with VEXAS, most patients had various hematologic, rheumatologic, and dermatologic disorders.
The median age of the patients was 68 years, ranging from 57 to 89. Most patients (84%) demonstrated canonical UBA1 methionine-41 (p.Met41) somatic mutations in hematopoietic cells. The most common presenting features of VEXAS syndrome were fever (82%), skin lesions (91%), and respiratory symptoms (93%). Chest CT showed abnormalities in 91% of patients, with parenchymal opacities being the most common finding (74%), followed by mediastinal lymphadenopathy (29%), airway abnormalities (29%), and pleural effusion (24%). Pulmonary function tests were available for 18 (40%) patients, with most results demonstrating mild restrictive impairment or normal results. Bronchoalveolar lavage and lung biopsy were performed in a minority of patients and demonstrated neutrophilic alveolitis and parenchymal inflammation, respectively.
All patients received glucocorticoid therapy with at least partial response, but relapses were common, and other immunosuppressive agents were employed in most patients. Pulmonary involvement appeared to improve in patients who received tocilizumab and JAK inhibitors. The study concluded that the pulmonary manifestations of VEXAS syndrome were relatively nonspecific and nonsevere, occurred in the context of systemic inflammation, and were responsive to an escalation in glucocorticoid dosing.
Source: resmedjournal.com/article/S0954-6111(23)00133-6/fulltext