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Peng Li, MD, PhD, ARUP medical director, seeks to increase awareness to the newly discovered VEXAS syndrome with a recently published blog and paper.
VEXAS syndrome is a newly discovered autoinflammatory disease named for its distinctive features: vacuoles, E1 enzyme, X-linked, autoinflammatory, and somatic. The rare condition primarily affects older adults and presents with a variety of symptoms, including fevers, inflammation, and anemia. Because the symptoms are complex and overlap with those of other inflammatory conditions, diagnosis can be challenging.
One of the most promising tools for the diagnosis of VEXAS syndrome is next generation sequencing (NGS) testing. Peng Li, MD, PhD, ARUP medical director of Hematopathology, wrote in a recent blog post, “NGS allows the rapid and precise detection of UBA1 mutations, which are essential for diagnosing VEXAS syndrome. Additionally, NGS can monitor disease progression and assess patient response to therapies.” Li added, “By pinpointing the UBA1 gene mutation as the underlying cause, scientists and clinicians have a clearer path to understanding the disease at a molecular level, potentially leading to targeted therapies and more effective treatments.”
Currently, there is no cure for VEXAS syndrome, and up to half of individuals who are diagnosed with the condition die within five years of diagnosis. Li said this highlights an urgent need for a better understanding of the disease and associated conditions and earlier diagnosis of the syndrome. Li and others recently published a paper in the journal Leukemia linking the unique dynamics of UBA1 mutations, unlike other common mutations in hematologic neoplasms, to low-risk myelodysplastic syndrome (MDS). Their research also showed that VEXAS syndrome may not be as rare as first thought and may affect approximately 1% of unselected patients with hematologic manifestations.
Li seeks to increase awareness of VEXAS syndrome and offer hope to patients who may undergo numerous tests, procedures, and treatments that provide few answers or solutions.
“This is a very straightforward disease to diagnose if you have the correct myeloid malignancies mutation panel testing by NGS. It’s treatable, and multiple clinical trials enrolling patients [with VEXAS] are currently ongoing. Some patients are responding well to very low-toxicity chemotherapy,” Li said. “We don’t know the definitive treatment option yet, but the earlier patients are diagnosed, the sooner they can start therapies to control their symptoms,” Li added.
Li believes as more people are correctly diagnosed with VEXAS syndrome, new and more effective therapeutic approaches will be developed, and hopefully, a cure will be found.
“We would like to offer this noninvasive NGS approach to all adult patients presenting with hematologic and/or rheumatologic symptoms, such as unexplained anemia or undiagnosed chronic inflammation, in order to improve diagnosis and raise awareness of this disease,” Li wrote.
Read the blog here.
View the paper published in Leukemia here.
Bonnie Stray, bonnie.stray@aruplab.com
