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[VEXAS syndrome].
M Zeeck1,2, I Kötter1,2, M Krusche3
1Sektion für Rheumatologie und Entzündliche Systemerkrankungen, Universitätsklinikum Hamburg-Eppendorf (UKE), Martinistr. 52, 20246, Hamburg, Deutschland.
Zeitschrift Fur Rheumatologie
|February 18, 2022
Summary
VEXAS syndrome, a recently identified autoinflammatory disease, results from somatic UBA1 gene mutations and predominantly affects men. This overview details its vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) characteristics and clinical presentation.
Area of Science:
- Genetics
- Immunology
- Pathology
Context:
- VEXAS syndrome is a newly recognized autoinflammatory systemic disease.
- It is caused by acquired somatic mutations in the UBA1 gene, located on the X chromosome.
- The disease primarily affects males later in life.
Purpose:
- To present a clinical case of VEXAS syndrome.
- To provide an overview of the pathophysiology, clinical manifestations, and diagnostic approaches for VEXAS syndrome.
Summary:
- VEXAS syndrome is characterized by vacuoles in bone marrow, inflammatory symptoms across hematologic, dermatologic, and rheumatologic systems.
- The underlying cause is a somatic mutation in the UBA1 gene, affecting the E1 enzyme crucial for protein ubiquitination.
- Clinical presentation is diverse, often overlapping with other systemic syndromes.
Impact:
- Enhances understanding of VEXAS syndrome's genetic basis and clinical spectrum.
- Aids clinicians in diagnosing and managing this complex autoinflammatory condition.
- Contributes to the growing knowledge of somatic mutations in autoinflammatory diseases.
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