What Is Systemic Mastocytosis and How Is It Diagnosed?
More Programs and Publications Featuring Dr. Brandy Gunsolus
In this program:
What happens in systemic mastocytosis, and what diagnostic tests are used for it? Medical laboratory scientist Dr. Brandy Gunsolus discusses the condition involving mast cells, common symptoms, and diagnostic tests used to determine the condition.
Transcript
Interviewer:
What is systemic mastocytosis, also known as SM?
Dr. Brandy Gunsolus:
So, systemic mastocytosis is a condition where the mast cells are over productive, you know, like what are mast cells? So mast cells are found throughout the body, predominantly in the connective tissues. Usually you set your cartilage, your bone, your tendons, your ligaments, and these cells, sole purpose basically is to release factors that trigger an inflammatory response. Inflammatory response is when you know, it gets hot, it gets red, it swells, things like that. So during systemic mastocytosis, these mast cells are either constantly triggering this inflammatory response, or they're doing it in cycles. So they're doing it now, and then they calm down and then they do it again, and then they calm down.
There are various levels of dysfunction with SM or systemic mastocytosis. It can be from very mild to very aggressive, and there's even a mast cell leukemia. Symptoms can include itching and hives, abdominal pain. You can have diarrhea, nausea, or vomiting. More severe, you know, anemia or bleeding. Most have some amount of bone or muscle pain and enlarged liver, spleen, you know, your lymph nodes and then nearly everyone that has SM has some amount of depression, mood changes or problems in concentrating. What is interesting about systemic mastocytosis is that typically, I mean, not always, but typically there's a trigger, and that trigger is, the most common ones are alcohol, skin irritation. Like you rubbed up against something that was really prickly or maybe that there's some plants out there that just naturally have some toxin, it's almost like a poison that kind of causes a skin irritant. Spicy foods in some people can be a trigger. Insect stings especially...I'm going to mispronounce it. Hymenoptera, it's the hornets in the bees there are stings and there are some medications that can also trigger it. If you are concerned that you may have systemic mastocytosis, please talk to your provider.
Interviewer:
What is the standard diagnostic workup for systemic mastocytosis?
Dr. Brandy Gunsolus:
First would be a complete blood count or a CBC with a white cell differential. And this is looking for low levels of cells. That's kind of a hallmark thing with systemic mastocytosis is that you have low white cells, low red cells, low platelets, occasionally, especially in more aggressive forms or in mast cell leukemia, you can sometimes find circulating mast cells in the blood. But that's in the more aggressive forms. Also would want liver function tests to evaluate to see if the liver is involved. That goes into kind of also triggering more of the inflammation, causing a lot of the, the cyclic nature of SM. One of the major criteria for systemic mastocytosis is a total tryptase level. And you want to do this level when you're at baseline and not during an acute episode. So if you happen to go to the ER when you're having, you know, a massive episode of this, then that's not when you want to measure a tryptase level, you want to measure it...
When you're just at home, you're feeling relatively well. You might have, still have some symptoms, but they're not extreme. When you do measure this tryptase level at baseline is what it's called. If that tryptase level is greater than 20 nanograms per milliliter, that's what's considered a major criterion for systemic mastocytosis. You can have a tryptase level like between 10 and 20 nanograms per milliliter, but that's generally what the milder forms. The more aggressive mastocytosis you're going to have that tryptase level of greater than 20. If that tryptase level is greater than 20, then what's called a C-kit mutation should be tested on the peripheral blood, because if that is positive, then you can avoid a bone marrow biopsy. Unless it's mast cell leukemia, then you kind of need to do the bone marrow biopsy as you would with any leukemia.
Interviewer:
So should people living with systemic mastocytosis request that other skin lesions be biopsied?
Dr. Brandy Gunsolus:
So typically when you're...when there's a consideration of mastocytosis as a diagnosis, you'll do that initial skin biopsy. There's a difference between localized mastocytosis and systemic mastocytosis. So you may need multiple biopsies in different parts of the body in order to get the diagnosis of systemic mastocytosis. This is where the multiple skin lesions may be necessary, but once you've had, you know, I would estimate no more than three. There may be some clinicians that would say up to four or five skin lesions to be biopsied, and that could be justified. But beyond that, you really don't need more skin lesions than that to be biopsied. Once you've been diagnosed with the systemic mastocytosis.
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