Fact-sheet: VEXAS syndrome


Updated on 05/21/2025 at 2:10 PM

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Definition

VEXAS syndrome is the acronym for "Vacuoles, E1 enzyme, X-linked, Auto-inflammatory, Somatic syndrome".

It is a rare systemic autoimmune disease (prevalence < 1/1,000,000) related to a somatic mutation of the UBA1 gene on chromosome Xp11.

Clinical features

Affects almost exclusively adult men, with the exception of rare cases described in women with Turner syndrome

Symptoms:

  • Systemic inflammatory manifestations: fever, weight loss, polyarthralgia, alveolitis, chondritis, vasculitis, skin involvement
  • Hematologic manifestations: cytopenia, venous thrombosis, lymphadenopathy, myelodysplastic syndrome, multiple myeloma and monoclonal gammopathy, hemophagocytic lymphohistiocytosis (rare)

Laboratory findings

Macrocytic anemia, thrombocythemia.

Biological inflammatory syndrome.

Myelogram: hypercellularity and signs of marrow dysplasia.

CT

  • Pulmonary involvement: diffuse pulmonary infiltration, ground-glass opacities, pulmonary nodules
  • Lymphadenopathy
  • Splenomegaly
  • Assessment for thromboembolism
  • Assessment for signs of chondritis (trachea, Sweet syndrome)
  • Assessment for bone involvement: inflammatory arthritis, focal bone lesion(s)

MRI

Joint involvement: inflammatory arthritis (intra-articular effusion, erosions, bone marrow edema)