Diagnosing and Managing Systemic Mastocytosis

How systemic mastocytosis (SM) is diagnosed

After meeting with you, reviewing your symptoms, and understanding your needs, your doctor may perform the following tests to evaluate you for SM:

Tryptase test: This test measures the amount of tryptase (an enzyme that is released by mast cells) in the blood.1 For more accurate results, a doctor may ask for a tryptase test after you have an allergic reaction.

KIT D816V blood test: It can help aid in the diagnosis of SM by identifying a genetic mutation that has been found in approximately 95% of patients with SM.2-4 There are different types of KIT tests available, and high-sensitivity tests are more accurate.

Bone marrow biopsy: A small piece of your bone marrow is taken through a procedure called a biopsy. The sample is checked under a microscope to look for abnormal mast cells or clusters of mast cells.1

While one test alone cannot confirm an SM diagnosis, it may help your doctor determine what additional diagnostic testing is needed.

Understanding your type of SM is important

SM can affect each person differently—each type comes with its own challenges and treatment options.1 Understanding your specific type is an important step after a diagnosis. It can help you and your care team manage your SM more effectively and know what to expect moving forward.

Learn more about SM

Possible systemic mastocytosis treatment options

SM can look different for everyone—and so can treatment.

Managing SM often involves a combination of approaches tailored to your symptoms, diagnosis, and overall health.1 Ask your doctor about what options may be right for you.

Symptom-focused treatments

Symptomatic treatments help with the individual symptoms people may experience. Common symptoms may include skin reactions (eg, itching or flushing), gastrointestinal discomfort (eg, cramping, diarrhea, or nausea), fatigue, headaches, and bone or muscle pain. These symptoms can vary, come and go, and their severity may differ from person to person.4

To help manage your symptoms, your healthcare provider may recommend a combination of medications, including:5

  • Antihistamines to help reduce allergic-type symptoms and prevent histamine release
  • Corticosteroids to manage inflammation during more intense flare-ups
  • Proton pump inhibitors or H2 blockers to reduce stomach acid and ease gut symptoms
  • Other symptom-targeting therapies, such as leukotriene inhibitors or mast cell stabilizers
  • Epinephrine delivery devices to treat the symptoms of severe allergic reaction (anaphylaxis)

Symptom management may also include lifestyle changes, such as avoiding known triggers like certain foods, temperature extremes, or stress.

It also means working closely with your care team to monitor your body's unique responses to triggers over time.

Targeted treatment

People with SM, including indolent SM (ISM) and advanced SM (AdvSM), may benefit from a targeted treatment. This type of therapy targets the underlying cause of disease, such as genetic mutations, and reduces excess mast cell buildup and activation.5

Learn more about a treatment option for ISM Learn more about a treatment option for AdvSM
  1. Pardanani, A. Am J Hematol. 2021;96:508–525.
  2. Garcia-Montero AC et al. Blood. 2006;108(7):2366-2372.
  3. Kristensen T et al. Am J Hematol. 2014;89(5):493-498.
  4. Ungerstedt J et al. Cancers. 2022;14(16):3942.
  5. Jackson CW, et al. Int J Mol Sci. 2021;22(20):11270.