Concurrent inhibited erythropoiesis in a case of VEXAS syndrome

Abstract

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a rare disease described by Beck et al. in 2020. Here we report a case of VEXAS syndrome with progressive worsening of pancytopenia. This patient demonstrated inhibited erythropoiesis along with normal granulopoiesis and megakaryopoiesis in the bone marrow. A diagnosis of myelodysplastic syndrome (MDS) was ruled out, while the patient presented with pure red cell aplasia (PRCA), a manifestation not previously described in the context of VEXAS syndrome. Therefore, VEXAS syndrome may also present with PRCA-like erythroid hypoplasia, which may aid in the better recognition of this disease.