VEXAS syndrome

VEXAS Syndrome

VEXAS syndrome (pronounced: veks-as), is a rare genetic condition that primarily affects men. The name VEXAS is an acronym for the main features of the condition: Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic syndrome.

Etymology

The term VEXAS was coined by researchers at the National Institutes of Health (NIH) who first described the syndrome in 2020. The name is derived from the key features of the condition.

Definition

VEXAS syndrome is a systemic inflammatory disorder that causes symptoms such as recurrent fevers, skin lesions, and various forms of organ inflammation. It is caused by mutations in the UBA1 gene, which is located on the X chromosome.

Symptoms

The symptoms of VEXAS syndrome can vary widely among affected individuals. Common symptoms include:

• Fevers
• Skin lesions
• Inflammation of various organs
• Blood clots
• Anemia
• Fatigue

Diagnosis

Diagnosis of VEXAS syndrome is based on the presence of characteristic symptoms, a detailed patient history, a thorough clinical evaluation, and specialized genetic testing.

Treatment

There is currently no cure for VEXAS syndrome. Treatment is symptomatic and supportive, and may include medications to reduce inflammation and manage symptoms.

Prognosis

The prognosis for individuals with VEXAS syndrome varies based on the severity of symptoms and the individual's overall health.

See also

• Autoinflammatory diseases
• Genetic disorders
• UBA1

External links

• Medical encyclopedia article on VEXAS syndrome
• Wikipedia's article - VEXAS syndrome

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