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New VEXAS syndrome identified in Portugal

Christian Fernsby |
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.

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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.

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.

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.

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.


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