The syndrome VEXAS (vacuoles, E1 enzyme, x-linked, autoinflammatory, somatic) is a newly identified auto-inflammatory disorder related to somatic UBA1 mutations. Up to 72% of patients may present lung involvement.
What are the pleuropulmonary manifestations in VEXAS syndrome?
Study design and Methods
114 patients were included in the French cohort of VEXAS syndrome between November 2020 and May 2021. Each patient included in the study who had an available chest CT scan was discussed in an adjudication multidisciplinary team and classified as potentially pleuropulmonary specific involvement of VEXAS syndrome or others.
51 patients had a CT scan available for review and 45 (39%) had pleuropulmonary abnormalities on chest CT scan that were considered related to VEXAS syndrome after adjudication. Most patients were males (95%), with median age 67.0 years at the onset of symptoms. Among these 45 patients, 44% complained of dyspnea and 40% of cough. All 45 patients showed lung opacities on chest CT scan (including ground-glass opacities, 87%; consolidations, 49%; reticulation, 38%; septal lines, 51%) and 53% pleural effusion. Most patients showed improvement with prednisone but usually required >20 mg/day. The main clinical and biological features as well the median survival did not differ between the 45 patients with pleuropulmonary involvement and the rest of the cohort suggesting that the prevalence of pleuropulmonary involvement might be underdiagnosed in the rest of the cohort.
Pulmonary manifestations are frequent in VEXAS syndrome but are rarely at the forefront. The initial outcome is favorable with prednisone and does not seem to lead to pulmonary fibrosis.
Available online 20 October 2022