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CASE REPORT article

Front. Immunol.
Sec. Autoimmune and Autoinflammatory Disorders: Autoinflammatory Disorders
Volume 15 - 2024 | doi: 10.3389/fimmu.2024.1403808
This article is part of the Research Topic Case Reports in Autoimmune and Autoinflammatory Disorders View all 26 articles

Case Report: VEXAS syndrome: an atypical indolent presentation as sacroilliitis with molecular response to azacitidine

Provisionally accepted
Roberto Pereira da Costa Roberto Pereira da Costa 1,2*Guilherme Sapinho Guilherme Sapinho 2,3Matilde Bandeira Matilde Bandeira 1,2Joana Infante Joana Infante 2,3Tiago Marques Tiago Marques 4Carla M. Santos Carla M. Santos 4João F. Lacerda João F. Lacerda 2,3João E. Fonseca João E. Fonseca 1,2José Carlos Romeu José Carlos Romeu 1
  • 1 Rheumatology Department, Unidade Local de Saúde Santa Maria, Centro Académico de Medicina de Lisboa, Lisbon, Portugal
  • 2 Instituto de Medicina Molecular, Faculdade de Medicina, Universidade de Lisboa, Centro Académico de Medicina de Lisboa, Lisbon, Portugal
  • 3 Hematology and Marrow Transplantation Department, Unidade Local de Saúde Santa Maria, Centro Académico de Medicina de Lisboa, Lisbon, Portugal
  • 4 Infectious Diseases Department, Unidade Local de Saúde Santa Maria, Centro Académico de Medicina de Lisboa, Lisbon, Portugal

The final, formatted version of the article will be published soon.

    VEXAS syndrome is a recently described autoinflammatory syndrome caused by somatic acquisition of UBA1 mutations in myeloid precursors and is frequently associated with hematologic malignancies, chiefly myelodysplastic syndromes. Disease presentation can mimic several rheumatologic disorders, delaying the diagnosis. We describe a case of atypical presentation resembling a late-onset axial spondylarthritis, later progressing to a systemic inflammatory syndrome with chondritis, cutaneous vasculitis and transfusion-dependent anemia, requiring high doses of steroids. Ruxolitinib was used as a first steroid-sparing strategy without response. However, azacitidine showed activity in controlling both inflammation and the mutant clone. This case raises the question of whether azacitidine's antiinflammatory effects are dependent or independent from clonal control. We discuss the potential relevance of molecular remission in VEXAS syndrome and highlight the importance of a multidisciplinary team for the care of such complex patients.

    Keywords: VEXAS syndrome, Auto-inflammatory, Ruxolitinib, Azacitidine, case report

    Received: 19 Mar 2024; Accepted: 29 Apr 2024.

    Copyright: © 2024 Pereira da Costa, Sapinho, Bandeira, Infante, Marques, Santos, Lacerda, Fonseca and Romeu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Roberto Pereira da Costa, Rheumatology Department, Unidade Local de Saúde Santa Maria, Centro Académico de Medicina de Lisboa, Lisbon, Portugal

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