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VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome
Chethana Ramakrishna1, Deepti Kapur2, Jagdish Ramachandran Nair3
1Rheumatology, Queen Alexandra Hospital, Portsmouth, UK cheths7@gmail.com.
Practical Neurology
|April 22, 2025
Summary
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome, a rare disorder, presents with diverse symptoms. Genetic testing confirmed a UBA1 mutation, highlighting its importance in diagnosing this multisystem condition.
Area of Science:
- Immunology
- Genetics
- Neurology
Background:
- Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an emerging autoinflammatory disorder.
- It is caused by somatic mutations in the UBA1 gene, primarily affecting older men.
- VEXAS syndrome presents with a wide range of clinical manifestations.
Purpose of the Study:
- To report a case of VEXAS syndrome with rare neurological manifestations.
- To emphasize the diagnostic importance of genetic testing for VEXAS syndrome.
- To discuss current and potential treatment strategies for VEXAS syndrome.
Main Methods:
- Clinical case presentation of a middle-aged man.
- Diagnostic workup including imaging and genetic testing for UBA1 mutation.
- Treatment with corticosteroids, tocilizumab, and discussion of other therapies.
Main Results:
- The patient presented with orbital inflammation, cranial nerve palsy, relapsing polychondritis, hearing loss, and rash.
- Genetic testing confirmed a UBA1 p.Met41Thr mutation, diagnosing VEXAS syndrome.
- The patient showed improvement with methylprednisolone, prednisolone, and tocilizumab.
Conclusions:
- VEXAS syndrome can exhibit rare and severe neurological symptoms.
- Early genetic diagnosis of UBA1 mutations is crucial for VEXAS syndrome.
- Treatment involves immunosuppression, with stem cell transplantation as a potential cure.
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