#67 - How to Diagnose Mast Cell Disease

Put on your detective hat because we will be diving into how to diagnose mast cell disease!

Dr. G and Kortney are joined by Dr. Josh Milner, one of the top experts in the field of mast cell disease, as they dive into the complexities of diagnosing mast cell disorders, focusing on cases of unexplained anaphylaxis and using this as our guide to understanding all of the tests that doctors do to figure out what is happening with your mast cells.

From histories to blood and urine tests to Darier's sign, bone marrow biopsies and more, we dig into the many tests needed for the detective work diagnosing mast cell disease. We learn that a nuanced approach is required to diagnose mast cell disorders and the importance of thorough evaluation to differentiate between potential causes.

This podcast was made in partnership with Allergy & Asthma Network. We thank Blueprint Medicines for sponsoring this podcast.

What we cover in our episode about diagnosing mast cell disease:

• Unexplained anaphylaxis could be linked to mast cell disorders.

• Diagnostic tools:

  • Blood tryptase test (fast but time-sensitive)

  • Urine metabolite tests (easier, longer window)

  • Skin rash assessment (urticaria pigmentosa)

  • Bone marrow biopsy (serious cases)

• Symptoms: Sudden episodes, chronic issues like fatigue, depression.

About our guest - Dr. Josh Milner

Joshua Milner, MD, is a renowned leader in discovering and understanding genetic diseases leading to allergic symptoms, including Hereditary Alpha Tryptasemia Syndrome, PLAID, PGM3 deficiency, ERBIN mutation, and others. With a background in biology from MIT and an MD with distinction in immunology from Albert Einstein College of Medicine, Dr. Milner has extensive experience in pediatrics and allergy and immunology, serving as chief of the Laboratory of Allergic Diseases at NIAID.

His vision is to leverage genetic variation to improve diagnosis and care for patients with allergic diseases through comprehensive genetic sequencing and functional studies, aiming for personalized medicine and interdisciplinary collaboration in pediatric allergy, immunology, and rheumatology.

More about Dr. Milner:

• https://www.pediatrics.columbia.edu/profile/joshua-milner-md

More 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/