VEXAS Syndrome: Causes, Symptoms, & Treatments

Written by Medicover Team and Medically Reviewed by Dr Donthula Grishma , Rheumatologist

VEXAS Syndrome is a rare, adult-onset autoinflammatory disease caused by a mutation in the UBA1 gene. It primarily affects men over 50 and leads to systemic inflammation impacting the blood, skin, lungs, and joints.

Early detection and proper treatment play a key role in managing symptoms and improving daily life.

What are the VEXAS Syndrome Symptoms and Warning Signs?

VEXAS Syndrome can show up with various symptoms that may come and go. Recognizing these signs early helps in timely treatment.

Common Symptoms

Repeated fevers without any apparent reason
Skin rashes or red patches
Joint pains, especially in the knees or hands
Tiredness and weakness

Severe Symptoms

Breathing difficulties
Swelling in the body
Drop in red blood cell count (anemia)

If symptoms persist or worsen, it's best to consult a specialist without delay.

What Are the Different Types of VEXAS Syndrome?

Currently, VEXAS Syndrome is not divided into different types. However, symptoms and their severity may differ from person to person. Some may have more lung issues, while others may have mainly blood-related complications. This makes individual medical care very important.

What Are the Common Causes and Risk Factors of VEXAS Syndrome?

A genetic mutation in the UBA1 gene causes VEXAS Syndrome. This is not inherited but acquired later in life, mostly in men above 50 years of age.

Causes

Mutation in the UBA1 gene (usually occurs spontaneously)

Risk Factors

Male gender
Age above 50
History of bone marrow or autoimmune issues

If you fall into any of these groups and frequently feel unwell, it's advisable to undergo a medical check-up.

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How is VEXAS Syndrome Diagnosed?

Diagnosing VEXAS syndrome requires a careful review of symptoms, along with laboratory tests. At Medicover Hospitals, we offer advanced diagnostic services to confirm the condition and rule out other issues.

Common diagnostic methods

Blood tests to check for inflammation and anemia
Genetic testing to find UBA1 gene mutation
Bone marrow biopsy, if required

Our experienced specialists and laboratories ensure accurate diagnosis for timely care.

What Are the Treatment Options for VEXAS Syndrome?

Though there is no permanent cure for VEXAS Syndrome yet, the condition can be managed effectively with proper treatment.

Treatment options

Steroid medicines to reduce inflammation
Immunosuppressants to control symptoms
Blood transfusions in case of severe anemia
Bone marrow transplant in rare and severe cases

Doctors at Medicover Hospitals follow a practical and step-by-step approach to managing each case. We focus on easing symptoms and improving day-to-day life.

When to See a Doctor?

If you're facing repeated fevers, long-lasting fatigue, or skin and joint issues that don't improve with usual treatment, it's time to consult a doctor. Men above 50 with other health problems should not ignore these symptoms.

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What Is the Recovery Process After VEXAS Syndrome Treatment?

Recovery depends on the severity of the disease and the body's response to treatment. Regular follow-up visits help monitor the condition and adjust treatment as needed.

Eating healthy food, taking medicines on time, and staying active are essential. Medicover offers counseling, diet advice, and regular health checks to support your journey.

What Precautions Can Help Prevent VEXAS Syndrome?

Since VEXAS Syndrome is caused by a genetic change that happens later in life, it cannot be prevented directly. However, staying alert to symptoms and seeking early medical advice can avoid complications.

Prevention

Regular health screenings for men above 50
Managing autoimmune symptoms early

Complications

Risk of lung infections
Severe anemia or blood clot issues

Timely treatment reduces the risk of serious health problems and supports a better quality of life.

Our Experience Treating VEXAS Syndrome

At Medicover, our team of expert rheumatologists and blood specialists works closely to give the right care for VEXAS syndrome. We know it's a rare and serious condition, so our doctors focus on early diagnosis, personalised treatment, and full support to help you manage better and feel stronger over time.

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Frequently Asked Questions

No, VEXAS Syndrome is not inherited. It occurs due to a somatic gene mutation in the UBA1 gene that happens later in life, usually in adulthood, not something passed down from parents.

There is no permanent cure at present. However, with proper treatment like steroids, immunosuppressants, or targeted therapies, symptoms can be managed to improve quality of life.

VEXAS stands for Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic, referring to key features and the genetic mutation responsible for the syndrome.

Life expectancy can vary. Some patients live many years with symptom control, but severe cases may lead to complications. Regular follow-ups and early treatment improve outcomes.

It is extremely rare in women due to their second X chromosome. However, some females with specific genetic changes or X chromosome abnormalities can be affected.

VEXAS typically develops in men over 50 years of age. Since it's caused by a mutation acquired later in life, it doesn't usually appear in childhood or early adulthood.