Approaches for the diagnosis and treatment of VEXAS syndrome: the importance of clinical suspicion and the use of methotrexate

Maria De Santis; Antonio Tonutti; Francesca Motta; Gabriele Todisco; Nicla Manes; Chiara Milanesi; Rossella Caselli; Serena Albertazzi; Arturo Bonometti; Carlo Selmi; Matteo Giovanni Della Porta

doi:10.1007/s00277-024-05863-0

Approaches for the diagnosis and treatment of VEXAS syndrome: the importance of clinical suspicion and the use of methotrexate

Ann Hematol. 2024 Nov;103(11):4789-4791. doi: 10.1007/s00277-024-05863-0. Epub 2024 Aug 23.

Authors

Maria De Santis^{1

2}, Antonio Tonutti^{1

2}, Francesca Motta^{1

2}, Gabriele Todisco^{1

3}, Nicla Manes³, Chiara Milanesi³, Rossella Caselli³, Serena Albertazzi³, Arturo Bonometti^{1

4}, Carlo Selmi^{5

6}, Matteo Giovanni Della Porta^{1

3}

Affiliations

¹ Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, Italy.
² Rheumatology and Clinical Immunology, IRCCS Humanitas Research Hospital, Rozzano, Italy.
³ Department of Oncology and Hematology, Humanitas Cancer Center, IRCCS Humanitas Research Hospital, Rozzano, Italy.
⁴ Pathology Unit, IRCCS Humanitas Research Hospital, Rozzano, Italy.
⁵ Department of Biomedical Sciences, Humanitas University, Pieve Emanuele, Italy. [email protected].
⁶ Rheumatology and Clinical Immunology, IRCCS Humanitas Research Hospital, Rozzano, Italy. [email protected].

PMID: 39177793
DOI: 10.1007/s00277-024-05863-0

Abstract

Vacuoles, E1-enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome is caused by mutations in the UBA1 gene in myeloid precursors, leading to systemic inflammatory manifestations. We present the case of a 75-year-old man presenting with fever, panniculitis, and macrocytic anemia testing repeatedly negative for UBA1 mutations in peripheral blood samples, but ultimately found positive on bone marrow mononuclear cell DNA. The man has been successfully treated with prednisone and methotrexate.

Keywords: Ageing; Autoinflammatory syndrome; Bone marrow; Immunology; Sanger sequencing.

Publication types

Case Reports

MeSH terms

Aged
Anemia, Macrocytic / diagnosis
Anemia, Macrocytic / drug therapy
Anemia, Macrocytic / genetics
Genetic Diseases, X-Linked / diagnosis
Genetic Diseases, X-Linked / drug therapy
Genetic Diseases, X-Linked / genetics
Humans
Male
Methotrexate* / therapeutic use
Mutation
Panniculitis / diagnosis
Panniculitis / drug therapy
Prednisone / therapeutic use
Syndrome
Ubiquitin-Activating Enzymes* / genetics

Substances

Methotrexate
UBA1 protein, human
Ubiquitin-Activating Enzymes
Prednisone