VEXAS: A Non - Systematic Literature Review

Aim: Through this review, the authors intend to accumulate existing knowledge of VEXAS for referral, and to serve as an inspiration for further discovery, funding and research into the discipline. Methods: The non systematic literature review was conducted in January 2021, using Google Scholar and PubMed as the major extensive search engines. The keyword ‘VEXAS’ was used to narrow search results, and data was restricted to only those articles published in English. Results: The search, followed by the selection for relevancy led to a total of 5 pieces of literature being used for the purpose of this review; the lack of a huge number of results arises from the fact that the disease has been recently discovered. Discussion: Adult-onset inflammatory conditions are of increasing interest to medical professionals, and a number of patients with these conditions present with symptoms for which a concrete diagnosis is difficult to establish. In recent times, using an unconventional, yet remarkably effective genotype – based approach, researchers at the NIH have been able to discover a number of somatic mutations in UBA 1, which give rise to a unique disease. The disease, which has been named VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory and somatic syndrome) by the founders, arises from specific somatic mutations in the UBA 1 gene, and patients presenting with VEXAS have clinical manifestations - as sporadic fevers, chronic inflammation of the lungs and cartilage, and atypical vacuoles in myeloid cells, venous thromboembolism, ear and nose chondritis and macrocytic anaemia. VEXAS stems from accumulated somatic mutations in UBA 1, typically manifesting in three major variants, severely impairing the natural ubiquitylation process in cells, and shows no observable pattern of inheritance, according to the preliminary research conducted at NIH. Conclusion: Further study into VEXAS is needed for a better understanding of the syndrome.