Abstract
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.