Living With Systemic Mastocytosis: Tips for Talking With Your Healthcare Team

This article is for people who are living with systemic mastocytosis (SM) and their care partners, or anyone who wants to learn more about SM. The goal of this activity is to help you talk to and work with your doctor and healthcare team throughout the diagnosis and management of SM and its symptoms.

You will learn about:

• SM and its symptoms

• How SM is diagnosed

• Ways to help manage SM and its symptoms

• Working with your doctor and healthcare team

• Making a treatment plan and questions you can ask

 

Certain medicines listed may not be approved by the US Food and Drug Administration (FDA) for systemic mastocytosis but are recommended by the National Comprehensive Cancer Network (NCCN).

Systemic mastocytosis (SM) is a rare health condition where you have too many mast cells, a type of white blood cell.

For most people, SM is caused by a random mutation (change) in their KIT gene -- the gene that carries the instructions for mast cell growth. This results in the improper control of growth and excess mast cells building up.

Mast cells are normally found in your bone marrow, where they're made, and throughout your body in other tissues and organs. With SM, mast cells can build up in your bones and bone marrow, skin, lungs, intestines, liver, spleen, and brain and cause symptoms and complications (additional problems).

Mast cells are part of your immune system -- your body's natural defense system -- and work to help it protect you against certain diseases and infections.

When mast cells become activated, they release special proteins -- such as histamine -- called mediators. The mediator's job is to cause certain immune responses to happen, including inflammation (or swelling).

With SM, having excess mast cells and mediators can lead to symptoms such as:

• Hives, itching, and flushing (skin redness and warmth)

• Stomach pain, nausea, diarrhea, and vomiting

• Bleeding problems and anemia

• Fatigue (tiredness)

• Swollen liver, spleen, or lymph nodes

• Headache

• Bone and muscle pain

• Mood changes, depression, anxiety, and problems with memory or concentration

• Anaphylaxis, a severe life-threatening allergic reaction that can cause shortness of breath, throat swelling, a fast heartbeat, and dizziness

To help diagnose (find) SM, your doctor will ask about your symptoms, when they happen, and if anything triggers them. They'll also review your medical history, do a physical exam, and may order tests to check your tissues and organs and for high levels of mast cells or mediators. They'll also work to rule out other conditions.

Tests can include:

• Blood or urine tests, including those to check your liver function

• Imaging such as a bone scan or X-ray, ultrasound, or CT (computed tomography) scan to look at your liver, spleen, and lymph nodes

• A biopsy of your skin, bone marrow, or liver, where a small piece of tissue is removed and examined

• Endoscopy or colonoscopy to look at your digestive tract

• Genetic test to check for the gene mutation that causes SM

SM symptoms can be different for different people. They can also be similar to or overlap with the symptoms of other health conditions. All this can make getting a correct diagnosis and proper treatment challenging in some cases.

Having open and honest communication with your doctor and healthcare team about your symptoms will be key. Talking to and working with them can help get you on the path to a treatment plan to help manage SM and its symptoms.

Ways to help manage SM and its symptoms that your doctor or healthcare team member may recommend, alone or in combination, can include:

• Regular monitoring with physical exams and blood, urine, and bone tests

• Lifestyle changes, including avoiding any known triggers such as stress or certain foods, medicines, or insect bites

• Medicines to help lower the number or slow the growth of mast cells, counteract or block mediators, reduce itching and inflammation, help with digestive system symptoms, and treat anaphylaxis in an emergency

• Procedures such as a stem cell or bone marrow transplant to replace your bone marrow with healthy stem cells or bone marrow

• Joining a clinical trial

As part of your treatment plan, be sure to tell your doctor or healthcare team member about:

• Your goals and personal preferences for care and treatment

• Your symptoms, when they happen and any triggers, anything that makes them better or worse, and any changes. Using a journal or diary to track and record your symptoms and triggers can help

• Any other health conditions you have

• All medicines you take -- including those you can get without a prescription -- and herbals and supplements

As part of your plan your doctor may also recommend that you see other healthcare team members, such as a dermatologist (skin specialist), allergist (allergy and immunology specialist), hematologist (blood condition specialist), or mental well-being team member, among others.

It's important to know that you are not alone. Your doctor and healthcare team are there for you and can help you find additional support as well.

Questions you can ask them about SM can include:

• What symptoms should I look for?

• What kind of tests and follow up will I need?

• What treatments are available, and what are their side effects?

• Are there any lifestyle changes I should make?

• Is there a clinical trial I can join?

• Are there other healthcare team members I should see?

• What should I do if I start to feel stressed or depressed?

• Is there a support group I can join?

• Where can I find more information and resources?

Congratulations!

You have successfully completed the program Living With Systemic Mastocytosis: Tips for Talking With Your Healthcare Team.

View Additional Materials on this topic that you may find useful

Upcoming In-person Patient Education Seminar in ISM

Systemic Mastocytosis

Systemic Mastocytosis -- National Library of Medicine

Systemic Mastocytosis -- Getting a Diagnosis

Living With SM

The Mast Cell Disease Society (TMS) -- Finding Support