Clinical and molecular spectrum of VEXAS with multiple UBA1 variants: case study and literature review.
Riku Das, Ion Prisneac, Emilia Calvaresi et al.
✦ AI-curated · Sources linked
Case in brief
A patient with VEXAS syndrome presented with neck swelling, headache, elevated inflammatory markers, leukopenia, macrocytic anemia, and thrombocytopenia. Bone marrow analysis showed no dysplasia or increased blasts. Genetic testing revealed three independent UBA1 mutations. This case underscores the clinical and hematologic variability seen in patients with multiple UBA1 mutations, highlighting the need for careful monitoring and diagnosis.
What made this case unusual
The presence of three independent UBA1 mutations in a single patient is atypical for VEXAS syndrome, which is usually associated with a single somatic mutation.
Diagnostic / clinical pearl
Clinicians should consider the possibility of multiple UBA1 mutations in patients with VEXAS syndrome, as this can lead to diverse clinical presentations and hematologic findings.
Why it matters
Understanding the heterogeneity of VEXAS syndrome can improve diagnostic accuracy and patient management, particularly in cases with complex presentations.