Hematologic Manifestations of the Newly Defined VEXAS Syndrome

A study of 16 patients provides a greater understanding of this new syndrome.

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a newly recognized disease characterized by severe autoinflammatory symptoms, thrombosis, and progressive cytopenias. Researchers provide a retrospective update on hematological manifestations in 16 patients evaluated at the National Institutes of Health.

Among the findings:

All patients were men; median age was 57 (range, 45–77) at disease onset.
All patients had UBA1 mutations.
Systemic inflammatory symptoms included fatigue in all patients, recurrent fever (88%), lung infiltrates (87%), skin lesions (88%), ear chondritis (73%), and vasculitis (67%).
Hematological findings included macrocytic anemia in all patients and thrombocytopenia (50%).
Six patients (38%) were di…

Reviewing Author

Brady L. Stein, MD, MHS

Disclosures

Leadership Positions in Professional SocietiesAmerican Society of Hematology (Senior Editor, ASH Self-Assessment Program; guideline development)

Brady L. Stein, MD, MHS

Disclosures

Leadership Positions in Professional SocietiesAmerican Society of Hematology (Senior Editor, ASH Self-Assessment Program; guideline development)

Hematologic Manifestations of the Newly Defined VEXAS Syndrome

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Reviewing Author