This disorder encompasses various subtypes, each presenting unique challenges and symptoms.
These cells are made in the bone marrow, where they usually help with allergic reactions and inflammation.
In most cases of systemic mastocytosis, these mast cells have a change in a gene called KIT.
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The KIT gene gives instructions for making a protein that tells mast cells when to grow and divide.
This can cause symptoms like itching, flushing, stomach pain, or severe allergic reactions.
Inindolent systemic mastocytosis, mast cells accumulate in various organs but do not cause significant organ damage or dysfunction.
Symptoms may be mild and usually include skin lesions and gastrointestinal issues.
The life expectancy for people with ISM is similar to that of the general population.
The number of mast cells is typically normal.
These mast cells may also behave abnormally.
It commonly presents with symptoms like bone marrow abnormalities, an enlarged spleen, and skin lesions.
It may also progress to ASM or mast cell leukemia (MCL) over time.
Close monitoring is essential.
Examples of organ dysfunction include low white blood cells, liver dysfunction, anemia, and low platelets.
ASM requires intensive treatment to manage its aggressive nature and preserve organ function.
This combination poses diagnostic challenges and requires careful management due to the overlapping symptoms and complexities in treatment.
Emergency Systemic Mastocytosis Symptoms
Emergency symptoms of systemic mastocytosis can be severe and require immediate medical attention.
Anaphylaxis requires prompt treatment withepinephrineto prevent potentially fatal outcomes.
Early symptoms may be subtle and easily mistaken for other conditions, which may delay getting a proper diagnosis.
Symptom variability in systemic mastocytosis is further influenced by the specific subtype of the disease.
The subtype dictates not only the intensity of symptoms but also the overall prognosis and response to treatment.
Specialists involved in diagnosis typically include allergists, dermatologists, gastroenterologists, and hematologists.
Askin biopsyis often the first step if cutaneous mastocytosis is suspected.
A small sample of the affected skin is examined under a microscope.
The number of mast cells in the sample is counted to confirm the diagnosis.
Another diagnosis method is a bone marrow biopsy.
This procedure involves numbing the skin and inserting a needle into the bone to extract marrow cells.
These cells are then analyzed microscopically to identify any abnormal accumulation of mast cells.
Symptoms can vary widely and often flare, making diagnosis challenging.
Understanding the diagnostic process and available treatments is crucial for managing this condition.
By avoiding triggers and utilizing support resources, individuals with systemic mastocytosis can often improve their quality of life.
Talk to your healthcare provider for more information.
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