VEXAS syndrome stands forvacuoles, E1 enzyme, X-linked,autoinflammatory, somatic syndrome.
It was first described in 2020.
VEXAS syndrome is caused bymutationsin the UBA1 gene of blood cells and causes inflammatory andhematologic(blood) manifestations.
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While a genetic condition, it is not hereditary and not passed down to children.
There is currently no standard protocol for treating VEXAS syndrome because the condition is novel and still being researched.
This article uses binary language to reflect the research terms.
Verywell Health recognizes that gender is not binary and is not determined by chromosomal makeup.
VEXAS syndrome is considered an autoinflammatory disease, involving inflammation-related damage to organs and tissues.
The E1 enzyme targets damaged or old proteins inside cells to be broken down.
Without the E1 enzyme, damaged proteins and waste build up within the cells.
Who Diagnoses VEXAS Syndrome?
This is typically done by using genomic DNA frombone marrowtissue or peripheral blood leukocytes (white blood cells).
Often, a diagnosis is made retrospectively for research purposes.
Genetic testing is diagnostic for VEXAS syndrome.
VEXAS syndrome may be tested for if a healthcare provider suspects it after observing symptoms.
People with VEXAS syndrome have often had symptoms for four to five years before receiving a diagnosis.
It can have complications such as:
Survival rates are still being researched.
Survival rates may depend on how the condition manifests.
A study of 116 people with VEXAS syndrome grouped participants into three clusters.
VEXAS syndrome typically requires a treatment plan that involves healthcare providers from several specialties.
Summary
VEXAS syndrome is an autoinflammatory condition due to mutations in the UBA1 gene.
It primarily affects men in middle age to late adulthood.
Genetic testis is diagnostic for VEXAS syndrome.
There is currently no standard protocol for treating VEXAS syndrome.
National Institute of Arthritis and Musculoskeletal and Skin Diseases.What is VEXAS syndrome?
2024;15(1):910. doi:10.1038/s41467-024-44811-4.
Zhang Y, Dong X, Wang H.Vexas syndromereview.Glob Med Genet.
2024;13(4):1049. doi:10.3390/jcm13041049
VEXAS Foundation.Understanding VEXAS syndrome.
Ruffer N, Krusche M.VEXAS syndrome: a diagnostic puzzle.RMD Open.
2023;9(3):e003332.
Al-Hakim A, Savic S.An update on VEXAS syndrome.Expert Review of Clinical Immunology.
2024;8(6):1444-1448. doi:10.1182/bloodadvances.2023012478
