Macrocytic anemia and polychondritis: VEXAS syndrome

Z Rheumatol. 2023 Feb 3. doi: 10.1007/s00393-023-01318-5. Online ahead of print.ABSTRACTAn adult-onset autoinflammatory syndrome caused by somatic mutations in the UBA1 gene on the X chromosome was first reported in 2020. This VEXAS syndrome (acronym for vacuoles, E1 enzyme, X‑linked, autoinflammatory, somatic) is characterized by an overlap of rheumatic inflammatory diseases with separate hematologic abnormalities. A substantial number of affected patients suffer from treatment refractory relapsing polychondritis and nearly always show signs of macrocytic anemia. This case report illustrates the diagnostic key points to recognizing patients with VEXAS syndrome.PMID:36735069 | DOI:10.1007/s00393-023-01318-5

Source: Zeitschrift fur Rheumatologie - February 3, 2023 Category: Rheumatology Authors: Markus Zeisbrich Viktoria Schindler M áté Krausz Michele Proietti Pavla Mrovecova Reinhard E Voll Cornelia Glaser Fabian R öther Klaus Warnatz Nils Venhoff Source Type: research