How Leeds University discovered a rare disease affecting only men has mutated
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A team of researchers from the University of Leeds have discovered the rare VEXAS disease that only affects men is on the rise.
Findings show a need to screen more men showing symptoms of the syndrome to understand exactly how common it is.
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Hide AdVEXAS syndrome is a serious inflammatory condition which develops in men over 50, causing them to become very sick and fatigued, and can be fatal.
Symptoms including unexplained fevers, painful skin rashes, blood clots and inflammation of the cartilage, lung tissue and blood vessels. When blood vessels are inflamed, it can affect the body's vital organs.
Research led by Dr Sinisa and Dr James Poulter, from the University of Leeds’ School of Medicine, has revealed genetic mutations in men who have VEXAS disease.
"The discovery that VEXAS is not that rare is a huge breakthrough," said Dr Savic, who is also a consultant immunologist at Leeds Teaching Hospitals NHS Trust.
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Hide AdHe added: "We have been able to provide answers for many very sick patients, who have been under our specialist care for years without a diagnosis."
The team, which included 13 academics and clinicians from Leeds, Hull, York and the US, examined DNA samples to establish the prevalence of the genetic mutations identified when the disease was first discovered.
They screened 18 local patients who matched the symptoms and found mutations in 10 of them.
Results found eight had the known variant previously associated with the disease, but two patients had completely different variants.
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Hide AdDr Poulter said the findings show a need to screen more people with symptoms for VEXAS.
He said: "The simple genetic test we have developed in Leeds will give patients the chance to access the most appropriate treatment based on what we now know about this disorder.
"As the average age of the population increases, it is likely that more later-onset disorders such as VEXAS will be discovered."
He added treatment could include a bone marrow transplant, or a change in their treatment to better control their symptoms.
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