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VEXAS syndrome
Other Resources UpToDate PubMed

VEXAS syndrome

Contributors: Casey P. Schukow BSc, Jeffrey Globerson DO, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a severe and progressive adult-onset systemic inflammatory condition with hematologic, rheumatologic, and dermatologic manifestations that was first described in 2020. The vast majority of reported patients are men and develop clinical disease in the fifth decade or later.

VEXAS syndrome is caused by a somatic mutation in UBA1 on the X chromosome. This mutation affects hematopoietic progenitor cells, decreasing cell ubiquitylation and increasing activated innate immune pathways in cells of myeloid lineage, with subsequent upregulation of proinflammatory markers that drives systemic inflammation.

Inflammatory manifestations of VEXAS syndrome include chondritis, vasculitis, and neutrophilic dermatosis. Many reported patients carry diagnoses of relapsing polychondritis, giant cell arteritis, Sweet syndrome, and polyarteritis nodosa. Fever and pulmonary infiltrates are further common findings. Other autoimmune and inflammatory diseases that have been reported include rheumatoid arthritis and Kikuchi-Fujimoto disease. Hematologic manifestations include thrombocytopenia, macrocytic anemia, thromboembolism, bone marrow failure, and an increased risk of hematologic malignancies, such as myelodysplastic syndrome (MDS) and multiple myeloma.

The prognosis is poor, often with severe and progressive clinical presentations.

For more information, see OMIM.

Codes

ICD10CM:
D89.89  – Other specified disorders involving the immune mechanism, not elsewhere classified
M94.1 – Relapsing polychondritis

SNOMEDCT:
782964007 – Genetic disease

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

The differential diagnosis includes each of the conditions seen in VEXAS syndrome, when occurring in isolation, and their differential diagnoses.

Differential diagnosis of vacuoles in bone marrow myeloid / erythroid precursors:

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:07/26/2021
Last Updated:08/04/2021
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VEXAS syndrome
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VEXAS syndrome
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