What is VEXAS syndrome, a condition with symptoms that may resemble those of other diseases

What Is VEXAS Syndrome Whose Symptoms Can Mimic Other Diseases?

What Is VEXAS Syndrome Whose Symptoms Can Mimic Other Diseases?

Numerous rare diseases exist globally, including VEXAS syndrome, a multifaceted autoimmune disorder causing extensive inflammation throughout the body. Identified and termed by a group of National Institute of Health (NIH) researchers in 2020, VEXAS syndrome appears to be more prevalent than numerous other rheumatologic conditions. To gain insights into this rare ailment, we consulted Dr. Sheetal Sharda, Director of Clinical Genomics Development and Implementation at the Neuberg Centre for Genomic Medicine.

What Is VEXAS Syndrome

What Is VEXAS Syndrome?

VEXAS stands for:

– Vacuoles in blood cells
– E1 Enzyme, essential for bodily functions and survival
– X chromosome, housing the mutated UBA1 gene
– Autoinflammatory, indicating immune system dysfunction
– Somatic, acquired rather than inherited.

“VEXAS syndrome entails recurrent fever episodes and abnormal inflammation, resulting in a variety of symptoms significantly affecting daily life,” stated Dr. Sharda.

She further explained, “Unlike the typical immune response to injury or pathogens like bacteria or viruses, in VEXAS syndrome, the immune system activates abnormally, triggering fevers and inflammation that damage tissues and organs, classifying it as an autoinflammatory disease.”

According to the NIH study, VEXAS syndrome predominantly affects males, largely due to an X chromosome mutation exclusive to males.

In a study screening over 160,000 individuals for the VEXAS-related gene mutation, researchers discovered it in 12 subjects. Intriguingly, two were females, suggesting the disease’s association with the X chromosome might not be as pronounced as previously believed.

What Causes It

Dr. Sharda explained, “This condition is associated with a particular genetic mutation in the UBA1 gene, situated on the X chromosome, essential for immune system regulation.”

She elaborated, “This mutation results in the buildup of abnormal proteins, provoking an inflammatory reaction. As it is X-linked, it’s usually more prevalent in males, although women can present with a milder form of the illness.”

Difficult to diagnose because its symptoms can mimic those of other more common diseases

Tricky To Diagnose Because…

According to Dr Sharda, VEXAS syndrome can be tricky to diagnose because its symptoms may resemble those of other conditions.

This includes:

  • Fever
  • Weight loss
  • Fatigue
  • Respiratory issues
  • Painful rashes, papules, or nodular lesions
  • Pain and swelling of the ear, nose, and joints

Treatment Options

Treatment Options

Dr. Sharda emphasized the necessity of a multidisciplinary approach involving rheumatologists, immunologists, and other specialists for managing VEXAS syndrome.

However, she noted that currently, there is no specific cure for VEXAS syndrome. Treatment primarily aims to alleviate symptoms and enhance quality of life. Some common treatment options include:

  • Immunosuppressive medications, which help control the overactive immune response, reduce inflammation
  • Corticosteroids, which may be prescribed to manage inflammation
  • Supportive therapies, such as respiratory support or pain management


Though not highly prevalent, comprehending VEXAS syndrome, its symptoms, and available treatments is pivotal for effective management. Dr. Sharda stressed the importance of seeking medical attention promptly if experiencing symptoms. He underscored that a collaborative effort among patients, healthcare providers, and researchers is crucial in unraveling the complexities of this rare condition. Dr. Sharda concluded by highlighting the empowering nature of knowledge, emphasizing that together, individuals can navigate the path toward improved health.