VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a rare autoinflammatory disorder that was first identified in 2020. This syndrome is characterized by a combination of symptoms, including recurrent fevers, blood abnormalities, and inflammatory skin lesions. The term "VEXAS" reflects some of the key features of the syndrome.
Here's a breakdown of the components of the term "VEXAS":
Symptoms of AiArthritis Diseases Regardless of Diagnosis
“Auto” Symptoms
Reference: Early Symptoms of AiArthritis Study, AiArthritis, 2019.
Typically the joint pain will coincide with one or more “Auto” symptoms and start and stop suddenly - for no apparent reason (which is called a "flare"). Some people will experience all of the above symptoms, others only a few. If you have any of the arthritis features, and at least one of the “Auto” features, please consult your physician about a referral to a rheumatologist.
Symptoms Often Associated with VEXAS:
What fellow patients want you to know
Do you have VEXAS Syndrome? Let us know what YOU would want those with VEXAS or those who are not yet diagnosed to know!
The diagnosis of VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome involves a combination of clinical evaluation, genetic testing, and laboratory assessments. Given the rarity and complexity of VEXAS syndrome, a multidisciplinary approach involving rheumatologists, geneticists, and other specialists is often necessary. Here are key components of the diagnostic process:
Given the recent discovery of VEXAS syndrome and its unique genetic basis, specialized testing for the UBA1 gene mutation is a critical step in confirming the diagnosis. This genetic testing is typically not part of routine genetic screening and may require consultation with geneticists or experts in rare genetic disorders.
It's essential for individuals suspected of having VEXAS syndrome to consult with healthcare professionals experienced in rheumatology and rare inflammatory disorders. Accurate diagnosis is crucial for appropriate management and treatment planning.
In an effort to ensure this page has the most accurate and up-to-date information, this page is currently awaiting medical review. Some information is subject to change.
Page Last Updated: 9/1/2023
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