SYSTEMIC MASTOCYTOSIS DIAGNOSIS

MAYBE MULTIPLE
SYMPTOMS HAVE
A SINGLE SOURCE.

Not an actual patient

COULD SM BE HIDING IN YOUR SYMPTOMS?

Read below to learn more about the signs and symptoms of systemic mastocytosis (SM), and explore different paths to diagnosis.

SM. It’s complicated.

Getting an SM diagnosis can be a complicated process. Since there are so many different symptoms, it can be tough to connect the pieces of the puzzle.

Misdiagnosed Symptoms

Given the rarity of SM, the variety of symptoms are sometimes attributed to other causes before an actual SM diagnosis is made. For example, SM can sometimes be mistaken for a GI disorder or cutaneous mastocytosis.

Many Symptoms, Many Specialists

You might have seen a variety of specialists to treat multiple symptoms. Because SM is so rare and awareness of the disease may be low, it often gets misdiagnosed.

EVALUATING FOR SM

Start by talking to your doctor and sharing your full medical history. There are several tests that your doctor may use to evaluate for SM. Some examples are included below. If your doctor isn’t familiar with the disease, you might be referred to a specialist, such as an allergist/immunologist or hematologist/oncologist.

Tryptase Test

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.

Biopsies

Biopsies are tissue samples taken for closer examination. Skin, organ, and/or bone marrow biopsies are used to measure the number of mast cells within tissue and to detect abnormalities.

KIT D816V Testing

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.

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

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