Definition
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New autoinflammatory disease discovered at the end of 2020.
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Rare disease.
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Genetic disease by somatic mutation (acquired) during life
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The acronym VEXAS stands for: Vacuoles, Enzyme E1, X-linked, Autoinflammatory, Somatic.
Epidemiology
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It is currently estimated that this syndrome affects one in 4,000 men over the age of 50.
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The disease is cosmopolitan.
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There are at least 220 cases in France to date and probably double in
the World.
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Men are mostly affected (95%) because the mutation is on a gene carried by the X chromosome.
Genetic
VEXAS syndrome is associated with somatic mutations in the UBA1 gene (located on the X chromosome). UBA1 is the main E1 enzyme that has a fundamental role in the functioning of cellular proteins.
Clinical
The patients, mostly men over 45 years old, present with a deterioration in their general condition (fatigue, weight loss) with fevers, an eruption of the 4 limbs and of the trunk of the neutrophilic dermatosis type. All present on the blood test anemia with large red blood cells (macrocytosis) and inflammation in the blood (raised C-reactive protein).
Among the clinical symptoms mens frequent, there are lung abnormalities, inflammation of the cartilages of the ears and nose (chondritis), ophthalmological abnormalities (swelling, redness), thrombosis of the limbs (phlebitis), pain in the joints and more rarely digestive abnormalities and kidneys.
On the blood test, one can see decreases in white blood cells and platelets and a hematological disease called myelodysplasia.
If you do a bone marrow puncture (myelogram), you can look under a microscope at the bone marrow cells that usually have the vacuoles that gave the disease its name.
Diagnostic
The diagnosis is genetic, it is based on a blood test highlighting the mutation of the UBA1 gene, most often in exon 3.
Evolution
It is not completely known because the disease is of recent description. It depends on the presence or absence of an associated severe hematological disease and whether the patient has severe infections.
Treatment
It is not codified to date. Most patients respond to corticosteroids, but may become resistant or dependent on this treatment. Other treatments are being tested, such as haematological drugs (azacytidine) and biotherapies (anti-interleukin 1, 6, anti JAK). For young patients with a severe prognosis related to blood disease, a bone marrow transplant can be offered.
VEXAS syndrome: symptoms, treatment, what is it?
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NEW article on VEXAS for the general public!
June 2023
Vexas syndrome
The challenge of a new, elusive disease
Identified in 2020, this pathology particularly affects
men over the age of 50. Once the first symptoms appear, the median life expectancy is around ten years.
For the moment, medicine is groping its way forward.