Case report: VEXAS syndrome with excellent response to treatment with azacitidine

Tzvika Porges; Elli Rosenberg; Ofir Wolach; Iftach Sagy; Yehonatan Sherf; Itai Levi

doi:10.1007/s00277-024-06072-5

Case report: VEXAS syndrome with excellent response to treatment with azacitidine

Ann Hematol. 2024 Nov 16. doi: 10.1007/s00277-024-06072-5. Online ahead of print.

Authors

Tzvika Porges¹, Elli Rosenberg², Ofir Wolach³, Iftach Sagy^{4

5}, Yehonatan Sherf⁶, Itai Levi⁶

Affiliations

¹ Hematology Department, Soroka University Medical Center, Yitzhack Rager Blvd 151, Beer Sheva, 84101, Israel. tzvipo@clalit.org.il.
² Clinical Immunology Clinic, Soroka University Medical Center, Beer Sheva, Israel.
³ Hematology Institute, Davidoff Cancer Center, Rabin Medical Center and Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
⁴ Rheumatology Unit, Soroka University Medical Center, Beer Sheva, Israel.
⁵ Clinical Research Center, Soroka, Beer Sheva, Israel.
⁶ Hematology Department, Soroka University Medical Center, Yitzhack Rager Blvd 151, Beer Sheva, 84101, Israel.

PMID: 39549055
DOI: 10.1007/s00277-024-06072-5

Abstract

Vacuoles, E1 enzyme, X-linked, auto inflammatory, somatic (VEXAS) syndrome is an inflammatory disorder caused by somatic UBA1 variants and is characterized by late-onset systemic autoimmune inflammation and blood abnormalities. Glucocorticoids ameliorate symptoms effectively. However, other treatment options have limited efficacy and a transient effect. Herein, we describe a case of a 69-year-old male patient with VEXAS syndrome with skin, lung and hematologic involvement. He was treated with glucocorticoids and after the failure with anti IL-1 he began treatment with azacitidine with excellent hematological and clinical response. Azacitidine may be a suitable option for treating VEXAS syndrome, especially due to the relationship between inflammatory symptoms and response to azacitidine.

Keywords: Azacitidine; Inflammatory syndrome; Myelodysplastic syndrome; VEXAS syndrome.