Early-onset VEXAS syndrome mimicking orbital cellulitis and successfully treated with allogeneic hematopoietic stem cell transplantation.
Gökhan Burul, Çagla Karaoglan, Erdem Bektaş et al.
✦ AI-curated · Sources linked
Case in brief
A 25-year-old male presented with recurrent fever, weight loss, arthralgia, and symptoms resembling orbital cellulitis. Imaging revealed orbital soft tissue inflammation, while laboratory tests showed macrocytic anemia, leukopenia, and elevated inflammatory markers. A UBA1 mutation confirmed VEXAS syndrome. After initial corticosteroid treatment failed, he underwent allogeneic hematopoietic stem cell transplantation, achieving 99% donor chimerism and hematologic remission at three months post-transplant.
What made this case unusual
This case highlights early-onset VEXAS syndrome, which is extremely rare and presented with atypical symptoms mimicking orbital cellulitis.
Diagnostic / clinical pearl
Clinicians should consider VEXAS syndrome in young adults with unexplained systemic inflammation and cytopenias, even when presenting with atypical manifestations.
Why it matters
This case underscores the importance of early genetic evaluation for accurate diagnosis and the potential effectiveness of allogeneic stem cell transplantation in refractory cases.