An update on VEXAS syndrome

VEXAS syndrome: a new discovered systemic rheumatic disorder

“…Predominance of VEXAS syndrome was estimated from analysis of available genetic data. Data collected from more than 163,000 participant of the Geisinger My-Code Community Health Initiative suggested that the syndrome occurs with prevalence of 1 : 14,000 in the whole investigated population, and is much more common in males (1 in 4,000 for males over 50 years) [ 6 , 7 ]. The recent studies indicated that the VEXAS syndrome is more common than previous estimations suggested [ 8 ].…”

“…Cardiac manifestations are found in about one-tenth of patients in the form of myocarditis and pericarditis [ 7 ]. Myocarditis can evolve into a cardiomyopathy.…”

Update on autoinflammatory diseases

“…Due to the recent discovery of this condition, long-term follow-up is not available [64 ▪ ]. Because of the risk of MDS and hematologic malignancies in VEXAS, HSCT should be considered early in the course of the disease [65].…”

Recovery of Bone Marrow Function in VEXAS Syndrome-potential Role for Romiplostim

“…An emerging category of hematoinflammatory disorders are broadly defined as diseases caused by somatic mutations restricted to the blood, but results in systemic inflammation with multiorgan involvement and are associated with abnormal and/or premalignant bone marrow (BM) changes 2 . The inflammatory manifestations are driven in part by activation of the NLRP3 inflammasome and release of proinflammatory cytokines such as interleukin (IL)‐1β, IL‐18, and IL‐6 3 . The hematological manifestations include vacuoles in erythroid and myeloid precursors, macrocytosis, and multilineage cytopenias.…”

“…Adam Al-Hakim 1 , Alyssa Cull 2 , Joanna Topping 3 , Fatima Nadat 1 , Joanna Milek 2 , Razan Alhefzi 2 , Michael F. McDermott 3 , Roger Owen 4 , Catherine Cargo 4 , James Poulter 5 , David G. Kent 2 , Sinisa Savic 1,3 , on behalf of the ImmunAID consortium* Correspondence: Sinisa Savic (S.Savic@leeds.ac.uk).…”