VEXAS Syndrome in a Male Patient With Fever and Rash

A 67-year-old man presented with painful erythematous plaques (Figure), recurrent fever attacks and joint and muscle pain. Initially, laboratory and histological findings were indicative of a neutrophilic dermatosis. Due to increased C-reactive protein (CRP) and Anti-Sjögren‘s-syndrome-related antigen A autoantibody (anti-SSA antibody) levels as well as fever and rash, an autoinflammatory disease was suspected. Over the course of the disease, the patient developed deep vein thrombosis in the legs and pulmonary embolism. Recurrent thromboembolic events, refractory inflammation and macrocytic anemia led to a suspected diagnosis of VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic mosaic). The diagnosis was confirmed by molecular genetic testing (p.Met41Leu variant of the UBA1 gene). VEXAS syndrome is a rare autoinflammatory disease. The somatic missense mutation in codon 41 of the UBA1 gene on the X-chromosome almost exclusively affects men. While rash and fever significantly improved with anakinra treatment (interleukin-1 receptor antagonist [IL-1RA]), no remission was achieved. Tocilizumab (anti-IL-6R) had a good effect on the erythema; however, the patient had to be switched back to anakinra (IL-1RA) with the addition of the Janus kinase (JAK) inhibitor tofacitinib.

Figure

Katharina A. Kälber, Prof. Dr. med. Jochen Hoffmann, Universitäts-Hautklinik Heidelberg, Ruprecht-Karls Universität Heidelberg,

Prof. Dr. med. Norbert Blank, Universitätsklinikum Heidelberg, Sektion Rheumatologie, Ruprecht-Karls Universität Heidelberg

Conflict of interest statement: The authors declare no conflict of interest.

Translated from the original German by Ralf Thoene, MD.

Cite this as: Kälber KA, Blank N, Hoffmann J: VEXAS syndrome in a male patient with fever and rash. Dtsch Arztebl Int 2024; 121: 565. DOI: 10.3238/arztebl.m2024.0043