VEXAS syndrome presenting as diffuse alveolar haemorrhage

Area of Science:

• Genetics and Hematology
• Pulmonology
• Autoinflammatory Diseases

Background:

• Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS) is a recently identified adult-onset autoinflammatory disease.
• It is characterized by somatic mutations in the UBA1 gene, leading to hematologic abnormalities and systemic inflammation.

Observation:

• A male patient in his late 30s presented with dyspnea, cough, and hemoptysis.
• Clinical findings included pancytopenia, diffuse bilateral ground-glass opacities on CT, and alveolar hemorrhage confirmed by bronchoalveolar lavage.
• Bone marrow examination revealed vacuolated erythroid and myeloid precursors.

Findings:

• Genetic sequencing identified the pathogenic c.121 A>G (p.Met41Val) mutation in the UBA1 gene, confirming the diagnosis of VEXAS syndrome.
• The patient exhibited significant alveolar hemorrhage and cytopenias consistent with VEXAS.

Implications:

• High-dose prednisolone pulse therapy led to complete resolution of alveolar hemorrhage and improvement in lung function and blood counts.
• This case underscores the importance of genetic testing for UBA1 mutations in patients with unexplained cytopenias and inflammatory symptoms.
• Early diagnosis and treatment of VEXAS syndrome can significantly improve patient outcomes.