How Leeds University discovered a rare disease affecting only men has mutated

A rare disease first identified in 2020 is much more common than first thought, say researchers at the University of Leeds investigating its origins.

Friday, 12th March 2021, 9:43 am

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.

VEXAS syndrome is a serious inflammatory condition which develops in men over 50, causing them to become very sick and fatigued, and can be fatal.

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VEXAS syndrome is a serious inflammatory condition which develops in men over 50, causing them to become very sick and fatigued, and can be fatal. Photo credit: stock.adobe.com

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.

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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.

The University of Leeds. A rare disease first identified in 2020 is much more common than first thought, say researchers from the West Yorkshire university investigating its origins.

He 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.

Dr Sinisa Savic, from the University of Leeds’ School of Medicine. Submitted photo.

Dr 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.

Dr James Poulter, from the University of Leeds. Submitted photo

Last year the VEXAS disease was discovered by a team of researchers including Dr Savic.

The disease affects only men because it is caused by genetic mutations on the X chromosome, and men carry only one X chromosome. The mutations are not present at birth, instead they develop during the patient’s lifetime.

Previously Dr Savic looked after a "number of patients" with what we now know as the disease for several years at a specialist allergy centres at the Leeds Teaching Hospitals NHS Trust.

The centre is one of four centres in the UK to be part of a European network for rare immunodeficiencies, autoinflammatory and autoimmune disorders.

Dr Savic said: "Their care has been complicated by the fact that we did not have a diagnosis which made choosing their treatment and advising them about the prognosis very difficult.

"Having established the cause of VEXAS we now have a real opportunity to transform the care of these patients."

He added: "We know there are still many patients who have a VEXAS-like condition, but in whom we do not know the cause.

"We plan to continue our research in hope to discover other genetic causes of these disorders."

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