Editor’s note: This article was originally published July 9, 2025, and shared as part of RheumNow’s ‘Best of 2025’ series as we close out the year. Enjoy!

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.

Author: Harwinder Kumar