What is VEXAS syndrome?
VEXAS syndrome is an autoinflammatory, chronic and genetic disease of the adult. It causes various inflammatory and haematological manifestations (in the blood). It can affect various organs (skin, lungs, blood vessels, cartilage). It occurs due to a mutation in a gene linked to the X chromosome, the UBA1 gene.
Why is it called VEXAS?
The name VEXAS was given due to the acronym (word formed with the initial letters or syllables of a sequence of words) of characteristics present in this syndrome:
- V – Vacopills are often found in cells in bone marrow biopsies of patients with VEXAS syndrome
- E – enzyme E1 is encoded by the gene (UBA1) involved in this syndrome
- X – the UBA1 gene is located on the X chromosome
- A – patients have an Autoinflammation
- S – gene mutations are Somatic, that is, they are acquired at some point in life and not inherited
What are the symptoms of this syndrome?
Patients with VEXAS syndrome often present fever and extreme fatigue. There are also inflammatory symptoms that can affect several organs:
- Skin: reddish lesions, nodules on the skin
- cartilage: inflammation, often painful, of the cartilage of the nose and ear
- Joints: pain, swelling and inflammation
- Lungs: pneumonia or fluid in the lungs
- vascular: inflammation of blood vessels, thrombosis
Changes in the blood often lead to bone marrow insufficiency and its manifestations can be:
- anaemia
- change in the number and functioning of platelets in the blood
- Myelodysplasia – changes in the functioning of the cells that produce blood
What are the risk groups for VEXAS syndrome?
VEXAS syndrome affects men more often than women. Thus, the main risk group is males over 50 years of age.
The reason for this is genetic. That is, males have only one X chromosome (one X and one Y) and thus this mutation in this chromosome manifests itself. In females who have two X chromosomes, the manifestation of symptoms is rarer, as it is necessary for the gene mutation to occur in both to cause severe disease.
Is this disease hereditary?
No. Although it is a genetic disease, which occurs due to a mutation in the UBA1 gene on the X chromosome, it is not hereditary, because this alteration is acquired after birth, throughout life. It is not passed down from parents to children.
How is the disease diagnosed?
The diagnosis of VEXAS syndrome is made based on the presence of symptoms and cellular and genetic findings characteristic of this syndrome. Genetic testing, particularly from a bone marrow sample, is important to look for mutations in the UBA1 gene.
Diagnosis can be difficult and delayed, as the symptoms of this syndrome can be confused with symptoms of other diseases, namely other autoimmune and inflammatory diseases
Is VEXAS syndrome curable?
Nope. There is currently no cure for VEXAS syndrome and the mortality rate is high. There are studies that point out that about half of people die within 5 years of diagnosis.
What is the recommended treatment for the disease?
There is no specific treatment for the syndrome, so treatment is focused on the inflammatory symptoms and the affected organs. It may be necessary for the patient to be accompanied by a multidisciplinary team. In some cases, patients may be candidates for blood transfusions and bone marrow transplantation.