Acronym for Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic.
Very rare. Disease defined as "hemato-inflammatory" disorder secondary to a somatic mutation of the UBA1 gene in the myeloid cells. The UBA1 gene located on the X chromosome codes for the cytoplasmic isoform of the E1-activating enzyme, that begins the ubiquitinization of the proteins, an essential step for their degradation at the proteasome level.
Clinical presentation:
- in general, men over 40 years of age
- recurrent inflammatory and / or rheumatological disorders: fever, vasculitis, arthritis, chrondritis,
- hematological abnormalities: the presence of vacuoles in the medullary cells is a characteristic (although non-specific) sign.
- increased risk of venous and arterial thromboembolic events
- often associated with various hematological diseases such as myelodysplasia and multiple myeloma (25 to 55 %)
Mortality is important: between 25 and 35 % at 5 years. The disease is often corticosteroid-resistant.
Treatments:
- anti-IL6 monoclonal antibodies and JAK2 inhibitors show promising results
- hematopoietic stem cell allogeneic transplantation (young patients without comorbidities).
Anesthetic implications:
check total blood count, thromboprophylaxis,
References :
- Wautier S, Houssiau H, Straetmans N.
VEXAS : une nouvelle entité au carrefour de la rhumatologie et de l’hématologie.
Louvain Médical 2022 ; 141 :207-11.
- Tan IJ, Ferrada MA, Ahmad S, Fike A, Quinn KA, Groarke EM, Beck DB, Allbritton J et al.
Skin manifestations of VEXAS syndrome and associated genotypes.
JAMA Dermatol. 2024;160 :822-9. doi:10.1001/jamadermatol.2024.1657
Updated: October 2024