A case of VEXAS syndrome presenting as macrophage activation syndrome: from chronic inflammation to multi-organ failure

A 65-year-old male was referred to our Internal Medicine Unit for a 7-year-long history of recurrent periodic fever, myalgia, migrant relapsing arthritis, recurrent auricular chondritis, recurrent cutaneous painful nodules, splenomegaly, deep widespread lymphadenopathies, and progressive weight loss. Because of this clinical presentation, the patient was diagnosed with Behçet’s disease in another center and treated for about 5 years with prednisone 0.5 mg/kg/day and anakinra 100 mg/day, with only partial response and development of steroid-dependency. Then, the patient discontinued the treatment with anakinra on his own decision. In his medical record, he also reported the diagnosis of a myelodysplastic syndrome, with a moderate–high molecular risk. The patient was seen by several hematologists although no specific treatment was recommended, he required periodic transfusion support because of severe anemia and thrombocytopenia. …