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[VEXAS Syndrome].
Vincent Jachiet1, Thibault Comont2, Olivier Kosmider3
1Sorbonne Université, service de médecine interne, hôpital Saint-Antoine, AP-HP, Paris, France.
La Revue Du Praticien
|June 6, 2025
Summary
VEXAS syndrome, a somatic UBA1 gene mutation disorder, affects older men with diverse inflammatory and blood cell abnormalities. Current treatments manage symptoms or target mutated cells.
Area of Science:
- Immunology
- Genetics
- Hematology
Background:
- VEXAS (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a recently identified autoinflammatory condition.
- It primarily affects men over 50 and stems from somatic mutations in the UBA1 gene.
Purpose of the Study:
- To summarize the clinical and hematological features of VEXAS syndrome.
- To outline current therapeutic strategies for managing this complex disorder.
Main Methods:
- Review of clinical presentations including inflammatory and hematological manifestations.
- Analysis of treatment approaches, encompassing symptom control and targeted therapies.
Main Results:
- Patients exhibit a wide range of inflammatory symptoms (fever, skin lesions, lung infiltrates) and hematological issues (anemia, low platelets, bone marrow abnormalities).
- These manifestations lead to considerable morbidity and mortality.
Conclusions:
- Therapeutic management for VEXAS syndrome is not well-established.
- Current strategies include corticosteroids, JAK inhibitors, tocilizumab for inflammation, and azacitidine or stem cell transplantation to target UBA1-mutated cells.
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