Overview of the VEXAS Syndrome Save

A current systematic review in Rheumatology addresses the clinical features seen in the VEXAS syndrome.

VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome was discovered in 2020 and since, increasing reports have characterized this disorder.  Al-Hakin et al. has reviewed the literature and included 720 patients from 33 case reports. 

From this literature cohort, key clinical features included:

• cutaneous involvement (81.8%)
• constitutional symptoms (69.4%)
• respiratory disease (61.3%) 
• Joint involvement (47.3%) 
• Ocular disease (44.3%)
• Venous thromboembolism (41.8%) 

VEXAS was complicated by myelodysplastic syndrome in 36%.  There were also many under-recognised manifestations including significant respiratory and vascular complications. 

Rare features included cardiac involvement (7.6%), renal disease (7.0%), and central nervous system manifestations (7.8%). 

Better understanding of this novel entity will facilitate earlier diagnosis, better monitoring, and more effective therapies.