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  • Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome in a patient with subacute cutaneous lupus (SCLE)

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Rheumatology
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome in a patient with subacute cutaneous lupus (SCLE)
  1. Stephanie Tancer1,1,
  2. Kyla Rodgers2,
  3. Douglas Fullen3 and
  4. J. Michelle Kahlenberg1
  1. 1 Rheumatology, University of Michigan Michigan Medicine, Ann Arbor, Michigan, USA
  2. 2 Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan, USA
  3. 3 Pathology and Dermatology, University of Michigan Michigan Medicine, Ann Arbor, Michigan, USA
  1. Correspondence to Dr J. Michelle Kahlenberg; mkahlenb{at}med.umich.edu

Abstract

A man in his 60s suffered from refractory, biopsy-proven subacute cutaneous lupus erythematosus that required chronic, moderate dose steroids to manage. His rash was accompanied by arthralgias and negative autoantibody testing. His subacute lupus erythematosus (SCLE) was responsive to tofacitinib, but thrombotic complications limited the use of this medication. He continued prednisone 20 mg daily to manage his symptoms until treatment with anifrolumab completely cleared his skin. During a subsequent prednisone taper, he developed a macrocytic anaemia and elevated liver function tests that continued to progress. Ultimately, a bone marrow biopsy and myeloid next-generation sequencing revealed cellular vacuoles and UBA1 gene mutation, respectively, consistent with a diagnosis of VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. We believe the chronic steroid use to control his SCLE masked the underlying diagnosis for many years.

  • Musculoskeletal and joint disorders
  • Immunology
  • Connective tissue disease
  • Drugs: musculoskeletal and joint diseases
  • Haematology (incl blood transfusion)

https://doi.org/10.1136/bcr-2024-261174

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    Footnotes

    • X @Kahlenberglab

    • Contributors The following authors were responsible for drafting of the text, sourcing and editing of clinical images, investigation results, drawing original diagrams and algorithms, and critical revision for important intellectual content: ST, KR, DF and MK. The following authors gave final approval of the manuscript: ST, KR, DF and MK. Guarantor is MK.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Case reports provide a valuable learning resource for the scientific community and can indicate areas of interest for future research. They should not be used in isolation to guide treatment choices or public health policy.

    • Competing Interests JMK has received grant support from Q32 Bio, Celgene/Bristol-Myers Squibb, Ventus Therapeutics, Rome Therapeutics, and Janssen. JMK has served on advisory boards for AstraZeneca, Biogen, Bristol-Myers Squibb, Eli Lilly, EMD serrano, Exo Therapeutics, Gilead, GlaxoSmithKline, Aurinia Pharmaceuticals, Rome Therapeutics, Synthekine, Vivideon, and Ventus Therapeutics. All other authors have nothing to declare.

    • Provenance and peer review Not commissioned; externally peer reviewed.