Adults
VEXAS syndrome
A man over 50 with recurrent inflammation (fever, chondritis, rash), macrocytic anemia or other cytopenias, and thrombosis.
What to look for
- Usually men over 50 (about 1 in 4,000 men over 50). Women, especially with X-chromosome loss, are occasionally affected.
- Recurrent fevers, ear or nose chondritis, neutrophilic dermatosis (Sweet-like), vasculitis, lung infiltrates
- Macrocytic anemia, thrombocytopenia, or myelodysplasia
- Venous thromboembolism
- Often labeled relapsing polychondritis, Sweet syndrome, or MDS that doesn't fully fit
What to do
- Send CBC with smear (macrocytosis), CRP/ESR and a metabolic panel.
- Diagnosis is by UBA1 somatic mutation testing. Bone marrow often shows vacuoles in myeloid and erythroid precursors.
- Refer to rheumatology and hematology. Severe cytopenias are urgent.
- Treatment is specialist-led: glucocorticoids, IL-6 or JAK inhibitors (such as ruxolitinib), azacitidine in some, and stem cell transplant in selected patients. The 2025 ACR guidance advises against B-cell depletion and recommends considering clot prevention when hospitalized and PJP and zoster prophylaxis.
About this urgency level
Specialist evaluation helps, but these are usually less time-sensitive than new inflammatory arthritis or connective tissue disease.
Timeframes are typical targets. Local pathways, capacity and clinical judgment come first.