According to information provided by the Público newspaper, the name of the syndrome is VEXAS and the discovery has been worrying specialists after the first case was identified in July 2022.
Of the 10 confirmed cases, seven were detected at Hospital Santo António do Porto, one at the Hospital Center of Trás-os-Montes and Alto Douro and another in Amadora-Sintra.
To help identify these patients, Hospital de Santo António is developing a test that allows the diagnosis, as is already the case in other countries.
What is VEXAS syndrome?
The syndrome was first detected in the US in 2020 - although it is believed to have existed before - and several studies and investigations are ongoing, especially in the US.
It is a genetic disease, but not hereditary, “with rheumatological and hematological characteristics caused by somatic variants in the [gene] UBA1”, according to the study 'Estimated prevalence and clinical manifestations of UBA1 variants', associated with the VEXAS syndrome, in a clinical population and reported by NM.
What are the symptoms?
Symptoms include extreme fatigue and malaise, but also fevers and low oxygen levels in people who already have other illnesses - such as rheumatoid arthritis or lupus.
Some of the symptoms are being associated with an overreaction of the immune system, so VEXAS could be classified as an autoimmune disease.
Who is affected?
VEXAS "affects men and women from the age of 40", but predominates in men over 50, according to statements from Raquel Faria, coordinator of the consultation for auto-inflammatory syndromes at the Hospital de Santo António, in Porto.
About half of people diagnosed, mainly men, die within five years of diagnosis, according to the Público report.
How is it diagnosed and treated?
To obtain a diagnosis of the disease, genetic tests are used that look for mutations in the UBA1 gene located on the X chromosome. Being a recently discovered disease, there are still many doubts, even regarding the treatment to implement.
However, the inflammatory features can be treated with steroids and other immunosuppressants and some patients may be candidates for bone marrow transplantation.
“Patients have a poor quality of life and mortality is still high. Although there are many evaluated alternatives, the results are less than optimal”, explains physician Luísa Regadas to Público.