Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome
is a novel described autoinflammatory entity for which the diagnosis is defined
by somatic mutations of the UBA1 X-linked gene in hematopoietic progenitor
cells. The clinical manifestations are heterogeneous since they range from
autoinflammatory symptoms to the presence of underlying hematologic disorders
such as myelodysplastic syndromes. Response to treatment in VEXAS is very poor
and to date, the therapeutic strategies adopted are only partially effective. However,
recently described cohorts of subjects with VEXAS treated with Janus kinase
inhibitors (JAK-I) proved that these drugs can be effective in the treatment of several
manifestations related to the disease. Herein, we carried out a brief literature review
that includes cohorts and single cases in which JAK-I were adopted as a promising
strategy to manage VEXAS patients. Subsequently, we described our experience
with JAK-I in VEXAS, illustrating the first case, to our knowledge, of a 65-year-old
man who was successfully treated with the selective JAK-1 inhibitor filgotini
