Part of the series: Allergy, Asthma & Immunology Innovations Podcast
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Getting a diagnosis of systemic mastocytosis takes about 8 years on average. The symptoms aren't specific, many doctors rarely see it, and each test tells only part of the story.
Kortney and Dr. Payel Gupta are joined by Dr. Tony Hunter, a hematologist at Winship Cancer Institute of Emory University. This episode builds on our first episode about testing. We walk through each test, what it can and cannot tell you, and what happens once you have a diagnosis.
What we cover in this episode about diagnosing systemic mastocytosis
Why would I see a cancer doctor? Systemic mastocytosis is technically a blood cancer, but the indolent type is a long-term condition. It does not usually shorten your life or damage your organs.
What does a high tryptase level mean? It can point to mastocytosis. But the most common cause is hereditary alpha-tryptasemia (HAT), an extra copy of the tryptase gene that a simple blood test can now find.
What if my KIT test came back negative? Most people with mastocytosis have the KIT D816V gene change, but some tests aren't sensitive enough to detect it. Newer, more sensitive tests are still being studied.
Do I really need a bone marrow biopsy? It is the main test to confirm the diagnosis. Dr. Hunter explains what doctors look for and what the procedure actually feels like.
What happens after a diagnosis? Urine tests can show mast cell activity, but they do not confirm the diagnosis. Once you are diagnosed, Dr. Hunter makes sure you have epinephrine and get a bone density scan.
About our guest
Dr. Anthony (Tony) Hunter is an associate professor in the Department of Hematology and Medical Oncology at Emory University School of Medicine and Winship Cancer Institute in Atlanta. He treats people with leukemia and other myeloid blood diseases, including systemic mastocytosis, and leads Emory's mastocytosis program. His research looks at the gene changes that drive these diseases, and he takes part in clinical trials of new treatments.
More resources on systemic mastocytosis
More episodes about systemic mastocytosis
Timestamps
01:23 Why see a hematologist for mast cell disease
02:29 Is systemic mastocytosis cancer
03:47 What indolent systemic mastocytosis means
04:38 Why diagnosis takes so long
06:39 What tryptase is and how it's used
09:33 What is hereditary alpha-tryptasemia (HAT)
12:50 What is the KIT D816V mutation
19:07 Why a bone marrow biopsy is the key test
26:20 Are urine tests helpful
29:48 What happens after a diagnosis
