Vexas Syndrome: A Review

Abstract

Illuminating the causes of systemic inflammatory diseases, particularly in adult populations, remains as a confrontation which limits the understanding of pathophysiology, prognosis, and treatment. VEXAS syndrome obtain from the somatic variants of UBA1 in their haematogenic and bone marrow cells. VEXAS syndrome is a vacuolated of myeloid and erythroid precursors, E1 enzyme, X-linked, auto-inflammatory and harbored somatic mutations. It is a adulthood auto-inflammatory and refractory disease that causes hematologic and auto immune abnormalities. UBA1 gene mutation: scupper of the somatic mutation which influences the methionine codon 41 of UBA1 gene and encodes a ubiquitin activating enzyme (E1). Clinical features are skin rashes, recurrent fevers, lungs, Thrombocytopenia and so on. Diagnosis are hematological investigations, bone marrow aspiration, bone marrow biopsy, etc., Treatment are an allogeneic hematopoietic stem cell transplantation, corticosteroid therapy and gene editing therapy. Complications are Respiratory failure, Progressive anemia, Multi organ collapse, thromboembolism and arterial stroke. Conclusion: VEXAS syndrome is a contemplated prototype of a new class disease in males’ adulthood - autoinflammation described by systemic symptoms and damage of multiorgan. Early diagnosis can prevent unessential diagnostic procedures and to provide more suitable treatment options, including stem cell transplantation.