Clonal mast cell disease is often missed because symptoms vary from person to person, tryptase levels can be normal, and bone marrow biopsies are hard to get. For some people, unexplained or very severe anaphylaxis may be an early sign of a clonal mast cell disease.

In this episode, we review “Prevalence of KIT D816V in anaphylaxis or systemic mast cell activation,” published in October 2025 in the Journal of Allergy and Clinical Immunology. This paper, known as the PROSPECTOR trial, is looking at how often the KIT D816V mutation can be found using a blood test in adults who have had anaphylaxis or systemic mast cell activation symptoms.

We break down why KIT D816V matters, how it connects to systemic mastocytosis, why HaT needs to be considered, and how newer blood tests may help doctors catch clonal mast cell disease earlier.

• Setting the stage: Understanding mast cell activation and anaphylaxis.
• Why KIT D816V matters: How this mutation fits into clonal mast cell disease, what blood testing can reveal, and when doctors still turn to a bone marrow biopsy.
• Making sense of tryptase and hereditary alpha-tryptasemia (HaT): Why baseline tryptase, the “20% + 2” rule, and HaT can make screening more complicated than it seems.
• What the PROSPECTOR trial uncovered: How often KIT D816V appeared in people with anaphylaxis, and other results on tryptase and HaT.
• How this helps patients: What these findings mean for anyone with unexplained or severe anaphylaxis, and how doctors combine KIT testing, tryptase, HaT, and symptoms to decide on next steps.

Other podcast episodes about mast cell disease:

• Ep. 127: Management of indolent mastocytosis - A clinical yardstick
• Ep. 126: Management of mast cell activation syndrome - A clinical yardstick
• Ep. 121: Avapritinib vs Placebo in Indolent Systemic Mastocytosis - PIONEER Trial
• Ep. 118: The ISM Disconnect - Do Patients and Providers Agree on Symptom Control?
• Ep. 70 How do stress and low histamine diets impact mast cell disease?
• Ep. 63: Mast Cell Diseases & Systemic Mastocytosis: The Basic Science
• Ep. 65: The Symptoms and Triggers of Mast Cell Disease

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The Itch Review, hosted by Dr. Gupta, Kortney, and Dr. Blaiss, explores allergy and immunology studies, breaking down complex research in conversations accessible to clinicians, patients, and caregivers. Each episode provides key insights from journal articles and includes a one-page infographic in the show notes for easy reference.

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Made in partnership with The Allergy & Asthma Network.

Thanks to Blueprint Medicines for sponsoring today’s episode.

This podcast is for informational purposes only and does not substitute professional medical advice. Always consult with your healthcare provider for any medical concerns.

Persistent congestion, pressure, or a reduced sense of smell often gets mistaken for allergies or a stubborn cold when it may be something more, like chronic rhinosinusitis with nasal polyps (CRSwNP). Getting the right diagnosis is the first step toward real relief.

Dr. Tonya Farmer, a board-certified ENT, joins Kortney and Dr. G to explain how chronic rhinosinusitis with nasal polyps (CRSwNP) is diagnosed. She walks us through the full evaluation: what symptoms matter, what a nasal endoscopy actually shows, when a CT scan is needed, and how type 2 inflammation fits into the picture.

• Key symptoms: Persistent congestion, drainage, facial pressure, and especially loss of smell are major red flags for CRSwNP.
• Why duration matters: Chronic means 12 weeks or longer. If symptoms keep coming back or never truly improve, it’s time to look deeper.
• The physical exam: ENTs use nasal endoscopy to see swelling, mucus, or polyps that aren’t visible from the outside.
• When CT scans are needed: Imaging helps confirm sinus inflammation and shows the extent of polyp growth.
• Additional testing: Allergy testing, IgE levels, eosinophils, and other immune markers help identify type 2 inflammation and guide next steps.
• When to see a specialist: If antibiotics, steroids, or over-the-counter treatments aren’t helping, ask for a referral to an allergist or ENT. Early diagnosis can prevent worsening symptoms and reduce the need for surgery.

Set the foundations: Ep. 133: What is Chronic Rhinosinusitis with Nasal Polyps (CRSwNP)?

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Made in partnership with The Allergy & Asthma Network.

Thanks to Sanofi-Regeneron for sponsoring today’s episode.

This podcast is for informational purposes only and does not substitute professional medical advice. Always consult with your healthcare provider for any medical concerns.

Avoidance has long been the standard for managing food allergies. But new options, such as oral immunotherapy (OIT) and biologic medications like Xolair (omalizumab), are changing the landscape. With more choices available, many patients and parents are wondering how to start the conversation with their allergist and what questions to ask.

Kortney and Dr. Payel Gupta talk with Dr. Shahzad Mustafa, a board-certified allergist and immunologist, about how patients can navigate today’s food allergy treatments with confidence. Together, they explore what to consider before starting OIT or Xolair, how to set realistic expectations, and why strict avoidance is still the right choice for many families.

• Food Allergy Avoidance: Why it remains an effective and valid approach for many, and how to make it work in daily life, including the nuances that make every case unique.
• Oral Immunotherapy (OIT): What it involves, who it’s best suited for, and what families should know about time, cost, and safety.
• Xolair (omalizumab): How this injection therapy works to reduce reactions from accidental exposures and what it doesn’t do.
• Setting expectations: How to talk with your allergist about your goals, quality of life, and what “success” really looks like.

More episodes about food allergies

• Ep. 129: Omalizumab for Multiple Food Allergies – The OUtMATCH Trial
• Ep. 98: Food Allergy Treatment and Management

More resources about food allergies

• Food Allergy Treatment & Management

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Made in partnership with The Allergy & Asthma Network.

Thanks to Genentech for sponsoring today’s episode.

This podcast is for informational purposes only and does not substitute professional medical advice. Always consult with your healthcare provider for any medical concerns.