A rare and deadly syndrome called VEXAS may be affecting 150,000 people in the United States
VEXAS syndrome was a mystery till 2020 before its genetic basis was revealed. The new data suggests that more than 15,000 people may be currently living with the rare disorder. With a very high mortality rate, characterized by fever and low blood oxygen levels, up to 50% of the patients die in five years because of the disorder.
The name of the disorder originates from a complicated anagram based on the genetic and biological causes of the syndrome. Furthermore, these mutations cause autoinflammation leading to problems in the joints and blood. The diagnosis is common in people with other autoimmune disorders. For example, blood cancer and lupus.
Although VEXAS is a genetic syndrome, it arises due to mutations later in life. Moreover, it does not even pass down to the children.
The syndrome was previously unknown, and many people could be suffering from it in the US. A new study on the record of over 160,000 patients suggests that 13,200 men and 2,300 women above the age of fifty suffer from it. Proving that it is less rare than perceived.
Lead author, Professor David Beck said,
Now that we know VEXAS syndrome is more common than many other types of rheumatologic conditions, physicians need to add this condition to their list of potential diagnoses when confronted by patients with persistent and unexplained inflammation and low blood cell counts, or anaemia,
The study comprised 163,000 white men and women who gave their consent of taking their blood samples for genetic testing. The researchers looked for VEXAS symptoms in the presence of UBA1 mutation, which results in the condition supposedly.
Twelve people had both the symptoms and mutation. Hence, it means that the prevalence is in up to 4,269 American men and 26,238 women above the age of fifty. It gives a figure of 15,500 people if normalized to the population in the US.
Study Limitations
The study is limited based on diversity because it only accounts for white men and women. Moreover, the sample size is also small for such a rare disease. However, the team plans on expanding their search in the future for a more diverse search, creating a diagnostic test eventually.
