Understanding the SM Diagnosis
Getting an SM diagnosis can be a complex process. Since there are so many different symptoms and specialists, it can be tough to connect the pieces of the puzzle.
SM can be difficult to recognize given the variety and unpredictability of symptoms. Sometimes, SM symptoms are attributed to other causes before an actual SM diagnosis is made (such as a gut disorder or a skin condition).
SM doesn’t follow a single path—it may manifest differently in every person. That is why a diverse team of specialists, such as allergists/immunologists, hematologists/oncologists, dermatologists, and gastroenterologists, may be involved in diagnosing and managing its wide-ranging symptoms.
The Diagnostic Journey
Results from the TouchStone SM Surveys
The surveys gathered insights from patients and healthcare providers to better understand the diagnosis, symptoms, daily life, and care of SM. In a survey of 56 adult patients with SM, results showed that:
It can take years to get diagnosed
from first recognizing symptoms until an
SM diagnosis
is received
Specialists can play a central role in SM
of people with SM were diagnosed by an
allergist or
immunologist
of people with SM were managed by an
allergist or
immunologist
Reference: 1. Mesa RA, et al. Cancer. 2022;128(20):3691-3699.
Diagnostic Tests

Not an actual person living with SM or medical professional.
Start by talking to your doctor and sharing your full medical history. There are several tests that your doctor may use to evaluate you for SM. Some examples are included below. If your doctor is not familiar with the disease, you might be referred to a specialist, such as an allergist/immunologist or hematologist/oncologist.
This test measures the amount of tryptase (an enzyme that is released by mast cells) in the blood. For more accurate results, a doctor may ask for a tryptase test after you have an allergic reaction.
A KIT D816V blood test can help aid in the diagnosis of SM by identifying a genetic mutation that has been found in approximately 95% of patients with SM.
References: 1. Garcia-Montero AC, et al. Blood. 2006;108(7):2366-2372. 2. Kristensen T, et al. Am J Hematol. 2014;89(5):493-498. 3. Ungerstedt J, et al. Cancers. 2022;14(16):3942.
A bone marrow biopsy is a test that can help diagnose SM by taking a small sample of bone marrow, usually from the hip bone. This sample is checked under a microscope to look for abnormal mast cells and clusters of mast cells, which are signs of SM.
While one test alone cannot confirm an SM diagnosis, it may help your doctor determine what additional diagnostic testing is needed.

Not an actual person living with SM or medical professional.
FAQs
Yes. Many people with SM report bone or joint pain, which can result from the buildup of abnormal mast cells in the bone marrow. Let your doctor know if this is a symptom you are experiencing. There may be ways to help manage it.
The treatment plan depends on the type of SM you have and your overall health. Talk to your doctor about which treatment options may be right for you.
Stay Connected With MastoConnect
Get updates, resources, and stories delivered right to your inbox.