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Advanced systemic mastocytosis (SM)* is a rare condition that can be hard to diagnose. Patients are often referred to different specialists, such as allergists and dermatologists, without getting the correct diagnosis and treatment. This can be a long and frustrating experience for patients and their families. But once a diagnosis is reached, the disease may be properly treated.
*Aggressive systemic mastocytosis (ASM), systemic mastocytosis with associated hematological neoplasm (SM-AHN), or mast cell leukemia (MCL) are 3 types of SM and are collectively referred to as advanced SM.
If you have been experiencing the signs and symptoms listed here and they have not gone away, it is important to talk to your doctor.
It is always a good idea to bring a loved one or caregiver with you when you see your doctor. You will probably get a lot of information at once. Having someone there with you to take notes and ask questions can help you stay organized and help you stay positive.
Your health care team will need to do several tests to diagnose advanced SM. These may include blood tests, a skin biopsy, and testing your bone marrow.
Your health care team may also test for a genetic mutation called KIT D816V. About 9 out of every 10 patients with advanced SM have this mutation. Finding out if you have this mutation can help your health care team give you an accurate diagnosis and come up with an appropriate treatment plan.
Get more information about advanced SM and treatment with RYDAPT (PDF).