VEXAS syndrome-related AA amyloidosis: a case report
Romain Euvrard, Thomas Fournier, Dana Georgescu, Estelle Bourbon, Pierre Sujobert, Jean‐Christophe Lega, Léopold Adélaïde
Abstract
Dear Editor, VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an acquired multisystemic auto-inflammatory condition due to somatic mutations of UBA1 (the gene for ubiquitin-like modifier activating enzyme 1, located on the X chromosome) in haematopoietic stem cells, described by Beck et al. in 2020 [1]. Complications and clinical phenotypes are still being described. We report herein the case of a systemic AA amyloidosis revealing a VEXAS syndrome and responding favourably to anti-IL-1 therapy. A 59-year-old man presenting with polyarthritis, maculo-papular rash (Fig. 1A) and auricular chondritis (Fig. 1B) was diagnosed with refractory relapsing polychondritis in 2018. At the time of diagnosis, he had a macrocytic anaemia (haemoglobin 8.1 g/dl, mean corpuscular volume 107 fl) with vitamin B12 deficiency. Even though intrinsic factor antibodies were negative, endoscopy found an atrophic gastritis consistent with pernicious anaemia. Despite vitamin B12 supplementation, macrocytic anaemia was...