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VEXAS syndrome: A 2-case series report
Adrián Mayo-Juanatey1, María José Fernández-Llavador2, María Del Mar Fernández-Garcés3
1Servicio de Reumatología, Hospital Universitari Doctor Peset, Valencia, Spain.
Reumatologia Clinica
|June 25, 2024
Summary
VEXAS syndrome, a rare condition caused by UBA1 gene mutations, presents with autoinflammatory and blood disorders. Patients often become dependent on corticosteroid treatment for symptom management.
Area of Science:
- Genetics
- Hematology
- Immunology
Background:
- VEXAS syndrome is a rare X-linked autoinflammatory disorder.
- It is caused by somatic mutations in the UBA1 gene.
- The condition is characterized by vacuoles in hematopoietic stem cells.
Purpose of the Study:
- To present a case series of VEXAS syndrome.
- To review the current literature on VEXAS syndrome.
Main Methods:
- Case series analysis.
- Literature review.
Main Results:
- Two cases of VEXAS syndrome were diagnosed and treated.
- Literature review summarized key features and treatment responses.
Conclusions:
- VEXAS syndrome requires early diagnosis for appropriate management.
- Corticosteroid dependence is a hallmark of the disease.
Keywords:
ChondritisCondritisMyelodysplastic syndromeSweet syndromeSíndrome de SweetSíndrome de VEXASSíndrome mielodisplásicoVEXAS syndromeVasculitisMore Related Videos
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