Overview of Systemic Mastocytosis

Brenton Mar, MD, PhD, Senior Medical Director at Blueprint Medicines, gives an overview of systemic mastocytosis and advanced systemic mastocytosis.
As Dr. Mar explains, systemic mastocytosis is a rare, hematologic disorder most often caused by a mutation in the KIT D816V gene. The disorder is characterized by uncontrolled mast cell proliferation and activation across multiple organ systems, resulting in chronic, severe, and often unpredictable symptoms and extensive organ damage.
A minority of systemic mastocytosis patients have advanced systemic mastocytosis, which encompasses a group of high-risk subtypes including aggressive systemic mastocytosis, systemic mastocytosis with an associated hematological neoplasm, and mast cell leukemia.
There is currently no approved treatment for systemic mastocytosis; however, recently avapritinib was approved for the treatment of advanced systemic mastocytosis.
To learn more about systemic mastocytosis and other rare hematologic disorders, visit checkrare.com/diseases/hematologic-disorders/

[@pearlnova8891]

I have had Systemic Mastocytosis since 2005.
Diagnosis based on -
Serum Tryptase ** elevated @ 23
Bone marrow Biopsy
2× showed many mast cells.
I am now 61 and am having bone pain, numbness/tingling in hands almost everyday for 15 years.
I have lost 70% of my hearing since 2005, and I became very farsighted, starting in 1999.
Have had anaphylaxis mostly on hot days outside or in shade on very bright days.
I am spending my days feeling like the struggle with S.M. is trying to get the best of me.
Chronic illness sucks the life out of you!!

[@darilekron4590]

Have you looked into possible benefits of Quercetin?

[@radiologypractice1434]

Thanks

[@vikileads6922]

I was just diagnosed with SM. I figured thats what was going on because the itching was uncontrolable . I wonder what this has in store for me. Of course I am also the only person in my family to get it.

[@lifewithlukas9703]

Who do we see? My son is non verbal with a rare chromosome deletion. He has these symptoms but we have never had a diagnosis. He can’t tell me his pain. He struggles with skin rashes itching and major GI issues. Please help

[@audrey0554]

I'm looking into someone for me right now and it does take time, but a pediatric allergist & immunologist who is knowledgeable should be a good place to start

[@spunkycookie215]

I was able to finally get a diagnosis for it from my dermatologist. Maybe you can start there.

[@KristinGibbs-uo6zm]

Go to an allergist

[@tonyaquilina7709]

Can it cause bone and mussel pain
My calfs are very sore at back of my legs.
It appears to take me a long time in morning to get moving
Can you advise me please