VEXAS Syndrome: It Occurs Rarely But Carries A High Mortality Rate |

VEXAS Syndrome occurs rarely but carries a high mortality rate. It mostly affects men over 50. Read on to know more about this autoimmune condition.

For a long time, VEXAS syndrome was considered a mystery illness, with its genetic basis identified only a little over a decade ago. This autoimmune condition was discovered and named by the National Institutes of Health in 2020. VEXAS syndrome mostly affects men over 50, and can cause blood problems, fever, inflammation, and even organ damage. While its occurrence is rare, it has a high mortality rate. According to estimates, up to half of patients, mostly men, die within five years of diagnosis.

How common is this the illness? A recent study by researchers at NYU Grossman School of Medicine suggested it’s more common than previously thought. They estimated that about 13,200 men and 2,300 women in the United States have VEXAS syndrome. Its prevalence is thought to be higher than myeloid dysplasia syndrome, vasculitis, and other types of rheumatologic conditions.

Causes of VEXAS syndrome

Mutations in the UBA1 gene of blood cells is known to cause VEXAS syndrome. However, it is not hereditary, i.e. patients do not pass the disease to their children. These mutations are acquired at some point in life. It’s also not contagious.

VEXAS is an acronym representing features associated with the disorder:

  • V: Vacuoles in blood cells
  • E: E1 enzyme which activates ubiquitin
  • X: X chromosome is where the mutated UBA1 gene is located
  • A: Autoinflammatory patients have autoinflammation.
  • S: The mutations are somatic (they’re acquired during life and not inherited)

Symptoms of VEXAS syndrome

It can affect multiple organs and cause a wide range of inflammatory symptoms. Some of the symptoms associated with the syndrome include fever, extreme fatigue, painful skin rashes, pain and swelling of the ear and nose (cartilaginous structures), cough and shortness of breath (due to inflammation in your lungs), joint pain and swelling, vasculature (inflammation of blood vessels), enlarged lymph nodes.

People with VEXAS may also suffer from blood-related problems like anemia, blood clots, and low platelets. Many patients with VEXAS are also diagnosed with other conditions such as relapsing polychondritis, polyarteritis nodosa, sweet syndrome and myelodysplastic syndrome (abnormal formation of blood cells that lead to leukemia).

Diagnosis of VEXASsyndrome

VEXAS is diagnosed using a blood test that helps detect a mutation in your UBA1 gene. Additionally, a bone marrow biopsy, imaging tests like a chest CT scan, or lung function tests may be done to rule out other conditions.

Treatment of VEXASsyndrome

Currently, VEXAS syndrome has no standard treatment. Steroids (especially corticosteroids) and immunosuppressants may be prescribed to treat the inflammation. But steroids may not work for some patients. Bone marrow transplantation have proven effective in some patients. Stem cell therapy is being investigated as a possible VEXAS treatments. Since this autoimmune condition can affect multiple organs, one may need to see different specialists to manage the disease.

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