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VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is caused by mutations in the UBA1 gene.
VEXAS is a rare, adult-onset disease associated with mutations in the UBA1 gene. It can appear alongside serious blood-related conditions and inflammatory symptoms, which can make it difficult to recognize without the right testing.
VEXAS may resemble other disorders because it can present with a mix of hematologic and inflammatory findings. Patients may have ongoing symptoms while standard testing does not provide a clear answer, which is one reason genomic testing can be important.
Possible signs may include macrocytic anemia, thrombocytopenia, hypercellular bone marrow, vacuolization of early blood-forming cells, inflammatory symptoms, vasculitis, inflammatory arthritis, ear or nose chondritis, constitutional symptoms, and high inflammatory markers.
Confirmation depends on demonstrating the presence of a UBA1 mutation. The current GTC content states that identifying this mutation is the way to confirm the diagnosis.
Because VEXAS can look like other blood or inflammatory disorders, patients may go through a long and frustrating search for answers. Understanding that this disease is linked to a specific genetic change can help patients ask more informed questions and discuss appropriate testing options with their physician.
Patients may want to ask their physician about VEXAS when they have unexplained inflammatory symptoms or blood-related abnormalities and previous testing has not fully explained what is happening. This can be especially important when symptoms continue, standard workups are negative or incomplete, and there is still concern about an underlying hematologic condition. This wording is an inference drawn from the symptom list and the page’s suggestion to ask a doctor about VEXAS when tests are coming back negative.
Genomic testing can play an important role because VEXAS is tied to a mutation in the UBA1 gene. GTC states that its Hematology Profiles can detect VEXAS, including Liquid Trace®, which analyzes both cfDNA and cfRNA. For patients, this means testing may help provide a clearer path toward confirming a diagnosis when VEXAS is suspected.
Because it is uncommon and can resemble other conditions, VEXAS may not be recognized right away. That can make awareness especially important for patients with persistent, unexplained symptoms.
If standard testing has not explained ongoing symptoms, genomic testing may offer additional insight by looking for disease-related mutations such as UBA1.
Not every patient with inflammation or blood abnormalities has VEXAS. The right path depends on the full clinical picture, and a physician can help decide whether additional evaluation or genomic testing is appropriate. This is an inference based on the page’s physician-directed call to ask about VEXAS in selected cases.
For patients living with unexplained symptoms, a better understanding of VEXAS disease can make it easier to ask the right questions and seek the right testing. When VEXAS is suspected, genomic testing may help provide the confirmation needed to move forward with greater clarity.
All of GTC’s Hematology Profiles can detect VEXAS including our Liquid Trace® test that analyzes both cfDNA and cfRNA. If you would think you have may VEXAS disease please have your physician contact us. Currently GTC is the only commercial laboratory performing testing for VEXAS.
