TY - JOUR
T1 - Case report
T2 - VEXAS syndrome with excellent response to treatment with azacitidine
AU - Porges, Tzvika
AU - Rosenberg, Elli
AU - Wolach, Ofir
AU - Sagy, Iftach
AU - Sherf, Yehonatan
AU - Levi, Itai
N1 - Publisher Copyright:
© The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature 2024.
PY - 2024/12/1
Y1 - 2024/12/1
N2 - 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.
AB - 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.
KW - Azacitidine
KW - Inflammatory syndrome
KW - Myelodysplastic syndrome
KW - VEXAS syndrome
UR - https://www.scopus.com/pages/publications/85209211846
U2 - 10.1007/s00277-024-06072-5
DO - 10.1007/s00277-024-06072-5
M3 - Article
C2 - 39549055
AN - SCOPUS:85209211846
SN - 0939-5555
VL - 103
SP - 5935
EP - 5939
JO - Annals of Hematology
JF - Annals of Hematology
IS - 12
ER -