A case series revealed the association between antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis and VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome).  Francesco Muratore et al. sought to explore people having VEXAS syndrome from a single-center cohort of Italian people having vasculitis.

Utilizing a clinically oriented phenotype-first strategy, the authors retrospectively reviewed clinical records of 147 male volunteers. All candidates with a diagnosis of vasculitis and therapy-resistant manifestations of inflammation, consistently raised inflammation markers, and hematologic abnormalities were detected. To assess vacuoles presence, an examination of bone marrow aspirates was done.

With the aid of genomic DNA from bone marrow tissue or peripheral blood leukocytes, the sequencing of ubiquitin-activating enzyme E1 (UBA-1) was carried out. A total of 7 individuals suffering from vasculitis and concomitant characteristics of VEXAS syndrome were discovered. In 3 out of 5 people who experienced sequencing of UBA-1 (diagnosis was done postmortem for 1 person), a final diagnosis of VEXAS syndrome was done.

In all the three participants, an inspection of bone marrow aspirate depicted vacuoles characteristic of VEXAS syndrome. Furthermore, all three subjects fulfilled World Health Organization (WHO) standards for myelodysplastic syndrome. In all three subjects, the cytogenetic assessment revealed normal karyotypes.

The data of this study highlighted the necessity to take into account VEXAS syndrome when investigating people with various forms of systemic vasculitis. Additional robust research is warranted to scrutinize the new relationship between VEXAS syndrome and ANCA-linked vasculitis.