Systemic mastocytosis

Diagnosis

To diagnose systemic mastocytosis, your healthcare professional talks with you about your symptoms and medical history, including any medicines you've taken. Tests look for high levels of mast cells or the chemicals they let out into the body. Any organs that may be affected by the condition can be checked.

Tests may include:

• Blood or urine tests.
• Bone marrow biopsy. A biopsy is removing a small sample of tissue for testing in the lab.
• Skin biopsy.
• Imaging tests such as an X-ray, ultrasound, bone density scan and CT scan.
• Checking organs affected by the condition, such as the liver. This may involve doing a biopsy, if needed.
• Genetic testing.

Treatment

Treatment may vary, depending on the type of systemic mastocytosis and the body organs affected. Treatment generally includes controlling triggers to avoid symptoms, treating the condition with options such as medicines, chemotherapy and stem cell transplant, and regular monitoring.

Controlling triggers

Identifying and avoiding factors that may trigger your mast cells, such as medicines or insect stings, can help you manage your systemic mastocytosis symptoms.

Medicines

Your healthcare professional may recommend medicines to:

• Treat allergic reaction symptoms, for example, with antihistamines.
• Lessen stomach acid and discomfort in your digestive system.
• Lessen the effects of the chemicals let out into your body by mast cells, for example, with corticosteroids.
• Control the KIT gene to lessen the number of mast cells made.
• Lessen bone loss.
• Lessen symptoms of depression or anxiety, for example, with antidepressants.

A healthcare professional can teach you how to give yourself an epinephrine shot if needed. The shot helps if you have a severe allergic response when your mast cells are triggered.

Chemotherapy

If you have aggressive systemic mastocytosis, or systemic mastocytosis with a blood or bone marrow condition, you may be treated with chemotherapy medicines to lower the number of mast cells in your body.

Stem cell transplant

In leukemia-related systemic mastocytosis, a stem cell transplant may be an option.

Regular monitoring

Your healthcare professional regularly monitors your condition using blood and urine tests. You may be able to use a special home kit to collect blood and urine samples while you're having symptoms. This gives your healthcare professional a better picture of how systemic mastocytosis affects your body. Regular bone density measurements can look for bone loss or signs of osteoporosis.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Lifestyle and home remedies

Systemic mastocytosis can be a complex condition. Understanding your condition is critical to ongoing care and preventing complications. Ask family or friends if they can help you monitor and care for your condition. Here are some self-care tips:

• Identify and avoid your triggers.
• Treat allergic reactions. If your healthcare professional recommends epinephrine, always carry one or two doses with you.
• Follow your healthcare professional's recommended care and ongoing monitoring.
• Wear a medical alert bracelet or necklace or carry a medical card identifying that you have systemic mastocytosis. Ask your healthcare professional to give you information about your condition that you can carry with you. Give it to healthcare professionals in case you need emergency care.

Coping and support

Consider these tips for managing systemic mastocytosis, a lifelong condition:

• Learn about the condition. Learn as much as you can about systemic mastocytosis. Then you can make the best choices and speak up for yourself. Help your family members and friends understand your condition, your care needs and the safety precautions you need to take.
• Find a team of trusted professionals. You'll need to make important decisions about care. Medical centers with specialty teams can offer you information about systemic mastocytosis, as well as advice and support, and can help you manage care.
• Seek out other support. Talking to people who also have systemic mastocytosis or other lifelong conditions can give you information and emotional support. Ask your healthcare professional about resources and support groups in your community. If an in-person support group isn't for you, your healthcare professional may be able to put you in touch with someone who has systemic mastocytosis. Or you may be able to find a group or individual support online.
• Ask for help. Ask for or accept help from family and friends when needed. Take time for your interests and activities. Counseling with a mental health professional may help with anxiety, depression and coping strategies.

Preparing for your appointment

You may start by talking with your family healthcare professional. Or you may be referred to a specialist in allergy and immunology called an allergist or a specialist in blood conditions called a hematologist.

Ask a trusted family member or friend to go with you to the appointment. That person can offer emotional support and help you remember the details.

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

What you can do

Before your appointment, make a list of:

• Your symptoms, including when they began and what seems to make them worse or better.
• Medical conditions you've had and their treatments.
• All medicines, vitamins, herbal supplements and dietary supplements you take.
• Questions you want to ask the healthcare professional.

Questions to ask may include:

• What likely is causing my symptoms?
• Are there other possible causes for these symptoms?
• What kinds of tests do I need?
• Should I see a specialist?

What to expect from your doctor

Your healthcare professional may ask questions such as:

• What symptoms do you have?
• When did your symptoms start?
• Do you have allergies? Have you had any allergic reactions?
• What triggers your allergy?
• What seems to make your symptoms worse? What seems to make your symptoms better?
• Have you been diagnosed or treated for any other medical conditions?

Be ready to answer questions so that you have time to talk about what's most important to you.