VEXAS syndrome

诊断

VEXAS syndrome may be hard to diagnose because of the range of possible symptoms and because the symptoms can be like those of other conditions that cause swelling and irritation, called inflammation. The only way to confirm a diagnosis of VEXAS syndrome is through genetic testing.

To do genetic testing, a healthcare professional takes a sample of blood or bone marrow and sends it to a lab to look for the changed gene that causes the condition.

治疗

Treatment for VEXAS syndrome depends on the symptoms. Treatment most often involves medicines for swelling and irritation, called inflammation, and medicines that lessen the immune system response.

Medicines

• Corticosteroids. Corticosteroid medicines, such as prednisone, ease swelling and irritation, called inflammation, and pain. There can be serious side effects. The risk of side effects rises when taken at high doses over a long time. Side effects may include bone thinning, easy bruising from skin thinning, weight gain, high blood sugar, cataracts and glaucoma, among others.

• Medicines that suppress the immune system. These include medicines such as tocilizumab (Actemra, Tyenne, others). They also include a class of medicines called Janus kinase inhibitors (JAKi), such as ruxolitinib (Jakafi), tofacitinib (Xeljanz) and baricitinib (Olumiant).

  These medicines help keep the immune system from attacking healthy cells. This helps with swelling and irritation while lowering the need for steroid medicines.

• Chemotherapy medicines. For some people, treatment may involve chemotherapy, which uses strong medicines to kill cells.

Bone marrow transplant

Also called a stem cell transplant, this procedure replaces bone marrow that isn't working well with new stem cells to make healthy bone marrow. For VEXAS syndrome, the cells come from a donor. This is called an allogenic transplant.

Bone marrow transplant is a complex procedure. It involves lowering the immune system response with chemotherapy and radiation so that the body can accept the donor cells. Possible complications include infections and failure of the donated stem cells.

For some people who get stem cells from a donor, the donor cells attack the tissues of the people who get them. This is called graft-versus-host disease. Complications of bone marrow transplant can be life-threatening.

A bone marrow transplant isn't for everyone. Age and certain medical conditions may keep you from having one.

Potential future treatments

VEXAS syndrome is a newly identified condition. Researchers keep looking for the best ways to treat it.

准备您的预约

You may start by seeing your main healthcare professional, who may send you to a specialist in arthritis and other inflammatory conditions, called a rheumatologist. Or you might see a specialist in blood conditions, called a hematologist.

Here's some information to help you get ready for your appointment.

What you can do

When you make the appointment, ask if there's anything you need to do before you go, such as fasting before certain tests. Make a list of:

• Your symptoms, including any that don't seem linked to the reason for your appointment, and when they began.
• Key personal information, including major stresses, recent life changes and family medical history.
• All medicines, vitamins and other supplements you take, including dosages.
• Questions to ask your healthcare professional.

Take a family member or friend along, if possible, to help you take in the information you get.

For VEXAS syndrome, some basic questions to ask include:

• What's likely causing my symptoms?
• What tests do I need?
• Is my condition likely to last or go away?
• What's the best course of action?
• I have other health conditions. How can I best manage them together?
• Are there restrictions I need to follow?
• Should I see a specialist?
• Are there brochures or fact sheets I can have? What websites do you suggest?

What to expect from your doctor

Your healthcare professional may ask you questions, such as:

• Have your symptoms stayed with you, or do they come and go?
• How bad are your symptoms?
• What, if anything, seems to make your symptoms better?
• What, if anything, seems to make your symptoms worse?