Have you ever searched for information on mast cell disease only to be overwhelmed by alarming topics like cancer and stem cell transplants? Then this episode is for you!

Our guest, Dr. Marina Kremyanskaya, joins hosts Dr. G and Kortney to provide insight into the progression of systemic mastocytosis and the available treatment options to improve quality of life and extend lifespan.

Dr. Kremyanskaya distinguishes between indolent and aggressive systemic mastocytosis, shedding light on warning signs indicating disease progression. She offers a detailed exploration of treatment approaches for aggressive mastocytosis, highlighting the evolving treatment plan and differing prognosis from indolent cases. Additionally, Dr. Kremyanskayaa delves into the concept of myeloid malignancy, providing insight into the more challenging aspects of advanced systemic mastocytosis progression.

We also dive into stem cell transplants as a potential cure for advanced systemic mastocytosis. Dr. Kremyanskaya explains why this option is not immediately pursued due to the complexity of the procedure and the risk of graft-versus-host disease (GvHD), a potential complication associated with stem cell transplants.

What we cover in this episode about advanced systemic mastocytosis:

• Understanding indolent systemic mastocytosis
• Signs indicating progression to advanced mastocytosis.
• Treatment strategies for aggressive mastocytosis and associated prognosis.
• Explanation of advanced systemic mastocytosis with or without hematologic malignancy.
• Definition of myeloid malignancy.
• Understanding the impact of advanced systemic mastocytosis on organs.
• The effectiveness of early treatment in slowing down the progression.
• The role of stem cell transplant in treating mastocytosis.
• Stem cell transplant and associated risks
  • Role of chemotherapy in stem cell transplant.
  • Overview of graft-versus-host disease.
  • Addressing whether stem cell transplant serves as a cure for mast cell disease.

• Mast Cell Disease Overview: https://allergyasthmanetwork.org/health-a-z/mast-cell-diseases/
• What is Anaphylaxis? https://allergyasthmanetwork.org/anaphylaxis/
• What is Epinephrine? https://allergyasthmanetwork.org/anaphylaxis/what-is-epinephrine/
• The Mast Cell Disease Society: https://tmsforacure.org/

Why talk to a hematologist about mast cell disease and systemic mastocytosis treatment?

Dr. Douglas Tremblay, a leading hematologist, joins Dr. G and Kortney to discuss the role of a hematologist-oncologist in diagnosing and treating mastocytosis. We discuss bone marrow's vital role in diagnosing and treating systemic mastocytosis.

Dr. Tremblay discusses the latest KIT inhibitors, a promising group of medications, and explains the difference between indolent and advanced systemic mastocytosis. He clarifies how KIT inhibitors work and emphasizes the importance of managing side effects. Finally, Dr. Tremblay provides insights into the future of KIT inhibitor approval and explores the possibility of participating in a clinical trial for Bezulastinib.

What we cover in this episode about treating systemic mastocytosis:

• What is a hematologist looking at with mast cell disease patients?
• Mast cell diseases and the role of bone marrow
  • Bone marrow biopsy for systemic mastocytosis
  • What is a bone marrow biopsy?
  • Information bone marrow biopsy provides for diagnosis
• KIT mutation
• KIT mutation testing in bone marrow and blood (digital droplet PCR)
• Indolent Mastocytosis versus Advanced Mastocytosis
• Current research for treating mast cell disease
• How KIT inhibitors work
• Do KIT inhibitors weaken the immune system?
• KIT Inhibitors discussed in this episode:
  • Avapritinib
  • Bezulastinib
  • Elenestinib
• Are KIT inhibitors a cure for mast cell disease?
• Determining the tolerance for side effects of medications when researching and adding new medicines for diseases
• The meaning of ‘NIB’ in the medication names
• The timeline for the new KIT inhibitors approval
• The type of patient that can participate in the clinical trials for Bezulastinib

• Dr. Tremblay: https://profiles.mountsinai.org/douglas-a-tremblay

  • Dr. Tremblay’s email: douglas.tremblay@mssm.edu

• Mast Cell Disease Overview: https://allergyasthmanetwork.org/health-a-z/mast-cell-diseases/

• What is Anaphylaxis? https://allergyasthmanetwork.org/anaphylaxis/

• What is Epinephrine? https://allergyasthmanetwork.org/anaphylaxis/what-is-epinephrine/

• The Mast Cell Disease Society: https://tmsforacure.org/

• Current studies enrolling patients: https://tmsforacure.org/clinical-trials/

What is it like when an unpredictable disease like systemic mastocytosis forces you to change the trajectory of your life?

As we continue to unpack mast cell disease, Dr. G and Kortney wanted to get the patient's perspective on living with such a complex disease. Tammie joins the podcast to discuss her journey battling mastocytosis, a rare condition affecting mast cells in the body.

If you ever feel alone on your chronic health journey, know you aren’t! Tammie's resilience and wisdom serve as a beacon of hope. We hope this inspires you to approach your health journey with determination and a sense of community.

What we cover in this episode:

• Tammie’s mastocytosis journey

• The challenges of not getting a proper diagnosis

• The pros and cons of being able to google medical conditions

• What do to when a doctor does not want to take you on as a patient

• How Tammie separates the disease from her life

• How do you navigate work with a chronic disease?

• Working with a mental health team

• How do you ask your family/friends for help

• Patient's relationship with their healthcare team

• Pros and cons of an online community for chronic disease and the importance of a real-life community

Connect with Tammie online:

• TikTok https://www.tiktok.com/@rachelllargentphillips
• Instagram https://www.instagram.com/tammie_rachell/

Resources about mast cell disease:

• Mast Cell Disease Overview: https://allergyasthmanetwork.org/health-a-z/mast-cell-diseases/

• What is Anaphylaxis? https://allergyasthmanetwork.org/anaphylaxis/

• What is Epinephrine? https://allergyasthmanetwork.org/anaphylaxis/what-is-epinephrine/

• The Mast Cell Disease Society: https://tmsforacure.org/