Successful treatment with azacitidine in VEXAS syndrome with prominent myofasciitis
Isabell Cordts, Judith S. Hecker, Darja Gauck, Joohyun Park, Johanna Härtl, Roman Günthner, Ariane Hammitzsch, Benedikt Schoser, Dietrich Abeck, Katharina S. Götze, Tobias B. Haack, Marcus Deschauer, Philipp Moog, Bernhard Hemmer
Abstract
Dear Editor, The recently defined VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome summarizes late-onset inflammatory conditions such as Sweet’s syndrome with overlapping haematological features due to somatic variants in UBA1 [1]. To date, data on effective therapies other than glucocorticoids are scarce. Our patient first presented with non-pruritic tender lesions (Fig. 1A and B) at age 60. The histopathologically confirmed neutrophilic dermatosis was not responding to a wide range of treatments, including hydroxychloroquine, methotrexate, ciclosporin, azathioprine, infliximab, adalimumab, ustekinumab, and apremilast. Only prednisolone was effective, but high doses were needed to prevent relapse. Ten years later, the patient was admitted with limb swelling and myalgias accompanied by pronounced fatigue and recurrent fevers. Physical examination revealed massive limb oedema leading to weight gain of 25 kg (Fig. 1C). Laboratory exams showed anaemia (haemoglobin min. 5.9 g/dl), thrombocytopenia (min. 90 G/l), and undulating white...