FAACT's Roundtable

Ep. 235: Exploring Systemic Mastocytosis (SM)

• Nathan Boggs • Season 5 • Episode 235

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We’re learning about Systemic Mastocytosis (SM) with Dr. Nathan Boggs, Allergy Division Director at Walter Reed National Military Medical Center, whose research focuses on SM. Dr. Boggs shares more about understanding symptoms, if you may have SM, and how to support people living with it.

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Thanks for listening! FAACT invites you to discover more exciting food allergy resources at FoodAllergyAwareness.org!

Caroline: Welcome to FAACTS Roundtable, a podcast dedicated to navigating life with food allergies across the lifespan. Presented in a welcoming format with interviews and open discussions, each episode will explore a specific topic, leaving you with the FACTS to know or use.

Information presented via this podcast is educational and not intended to provide individual medical advice.

Please consult with your personal board-certified allergist or healthcare providers for advice specific to your situation.

Hi everyone, I'm Caroline Moassessi and I am your host for the FAACT Roundtable podcast.

I am a food allergy parent and advocate and the founder of the Grateful Foodie Blog. And I am FAACTS Vice President of Community Relations.

Before we start today, I would like to say thank you to Blueprint Medicines for their kind sponsorship of FAACT's Roundtable podcast.

We're learning about systemic mastocytosis, how to understand if you may have it, and then how to support people living with it. With Dr. Nathan Boggs,

this area is part of his specific focus and is going to be a very interesting podcast. Welcome Dr. Boggs, to FAACT's Roundtable podcast. We're absolutely thrilled, delighted, excited. I don't know how many words I can get in there to say how happy we are that you're here because this is a topic that we really need to talk a lot about and I know this is a little passion area for you,

so welcome.

Dr. Boggs: Thank you, Carolyn. It's a pleasure to be with you today.

Caroline: Well, we're very happy to have you here, as you can tell,

and let's start off by helping our listeners get to know you. So if you don't mind sharing your background, and then what drew you to this area?

Dr. Boggs: Yeah, okay. So to start with the background, I am the Allergy Division Director at the Uniformed Services University,

which is located at Walter Reed in Bethesda, Maryland. Prior to that, I should say I've been here roughly six years. Prior to that, I did a fellowship at the NIH Allergy Immunology and a residency in Internal Medicine.

Before that at Yale Moonhaven Hospital.

I actually went to medical school here at Walter Reed. Again, the Uniformed Services University is where I graduated from.

Prior to that, I completed a PhD in plant molecular biology. So I did not plan the allergy life at that stage, but it just so happens that there are some plants involved in the medical specialty I'm in now.

I have an interest in mastocytosis and specifically systemic mastocytosis, which is it's most often found in adults, but sometimes children.

And I think I was really inspired by a fellow that is now a staff member in a children's hospital in Texas. But before that, when she was here as a fellow,

she had a child family member with cutaneous mastocytosis. And really her question was, how do we help people with mastocytosis? And we sort of embarked on this multi year journey to do that.

So really inspired by actually one of the fellows.

Caroline: I love that because I think when you know somebody and you can feel a little bit of what's happening, I think that changes perspective.

Dr. Boggs: Definitely,

definitely. And what a journey it was when she really asked that question to where we are today in trying to help patients with mastocytosis. So I do feel blessed that she sort of was the first to ask the question here.

Caroline: And then here we are. So now we're gonna jump right into the topic, but I think we should talk a little bit about what is mastocytosis and then what is systemic mastocytosis?

And then I think you mentioned a third one, cutaneous. So if you can help us understand and give us a base dose of knowledge here, that'd be great.

Dr. Boggs: Definitely.

So mastocytosis describes a group of what we call myeloid neoplasms.

Neoplasms, they're the result of abnormal growth and proliferation of neoplastic mast cells.

And so we call this umbrella category mastocytosis. And then there are types of mastocytosis where there's systemic mastocytosis, cutaneous mastocytosis, and then very much less common mast cell sarcoma.

And then in terms of cutaneous mastocytosis, that's mostly children.

People who have systemic mastocytosis would be mostly an adult group.

Many of those adults with systemic mastocytosis have skin involvement where they have mastocytosis in the skin,

but their disease is truly systemic. It's not just in the skin. Whereas the children,

it's usually just in the skin.

Caroline: So now let's go specifically into systemic mastocytosis, because I know that is like your one special area here. What are the signs and symptoms of it?

Dr. Boggs: That's a great question.

So patients usually come to our attention through three different pathways.

The first one is when they have the skin spots that are characteristic of systemic disease. Systemic mastocytosis,

the skin spots are on areas of the body that do not see a lot of the sunlight. So they're typically on, like the chest,

the upper legs, the back,

the upper arms, but not the lower arms or the lower legs, the hands or the feet or the head.

And so when, when people come in with spots that suddenly come up. If they brush against their clothing,

those spots, they swell up and become what we call urticaria or hives right over the spot.

That story sounds like mastocytosis in the skin. And if it's an adult,

we would usually think that that's very, very, very likely to be systemic mastocytosis. And all of the spots tend to be the same size, they're very small. And we, we call them,

we call them monomorphic because this,

the spots are like very similar in size to each other and they're just sort of scattered in those areas.

And then the second way that someone might present where there is a high suspicion for systemic mastocytosis is when a person has anaphylaxis.

But not just any anaphylaxis. Anaphylaxis that is severe, that has specific clinical features.

And those specific clinical features include what we call like loss of consciousness or syncope. It can be syncope, but it also can be something that, where somebody does not lose consciousness or have syncope, but they get close to that point and where the blood pressure will go down,

the heart rate might go up, maybe they get to lay down quickly enough that their brain still has, is getting blood to it enough to stay awake.

We call that sort of loss of consciousness syncope or pre syncope.

But the most important point with this is that they do not have the typical things that would clue you in that it's anaphylaxis, like hives.

If somebody does not have hives with anaphylaxis, you might suspect that it might get even missed as anaphylaxis because it might actually look like a cardiac event,

really, this sort of cardiovascular heavy anaphylaxis where there's an absence of hives and an absence of other type of tissue swelling like on the face, that you might kind of typically associate with an allergic reaction.

The third way that someone might come to the attention of someone who, you know, going to evaluate them to, to look for systemic mastocytosis is perhaps some other non specific clinical finding that is not specific for systemic mastocytosis, but may be found in some, in many patients with it,

but it could be also be found in other conditions.

And then in those patients, oftentimes a doctor will check something called a tryptase, which is a, as a simple blood test.

If that blood test is elevated,

someone like me, who's an allergist, could look to see if that person has one copy of the tryptase gene or more than one copy. And if they have the normal cop, if they have no extra copies of the Tryptase gene, but yet their Tryptase is elevated, then that person is actually very likely to have systemic mastocytosis as well.

So those are basically the three ways that patients might come to our attention.

Caroline: And are there things that trigger it.

Dr. Boggs: In terms of the anaphylaxis?

Caroline: Right, Like. Like, could there be an event or a food or an environmental moment or stress or. I don't know, anything.

Dr. Boggs: Yeah, and I know. I know your group is, like, really into the food anaphylaxis community. And so I did, you know, I looked at our specific, you know, data that we published on food before this call, and roughly 15% of the anaphylaxis events in patients with SM might be triggered by food.

And so food is a. It's not the highest, but it's not the lowest of all the triggers that. That someone might have.

About half of the episodes of anaphylaxis are triggered by bee and yellow jacket stings and ant stings. Actually,

half of them kind of fall into that group. Food allergy, you know, food allergy is another one. But probably a smaller proportion will have food allergy,

and then probably equal to the percentage of patients with.

Around 15, 50% of patients will actually have anaphylaxis with no trigger at all.

And that's the hard part, because then those patients probably don't even get identified as having anaphylaxis.

They might actually be thought to have a cardiac event,

like a heart attack or something else. And so because of that variability in how the anaphylaxis looks in this condition,

it's very important to have a trigger. I mean, because without a trigger, someone might not know it's anaphylaxis.

Caroline: This is fascinating. I never knew any of this.

So now if someone's listening and being just as fascinated as I am, and they suspect that they might have systemic mastocytosis or even someone they love, what's next? What do they do?

Dr. Boggs: Yeah, I think that's a great question. I think there's a very useful website on the American Initiative in Mast Cell Diseases website that lists centers of excellence that have routinely see patients where there's a concern for systemic mastocytosis.

And I think the AIM group has done a very important job of identifying these centers and, you know, reference centers and centers of excellence to help patients figure out geographically which place is closest to me that I can go to,

you know, to someone who has some track record and helping patients like this and thank you.

Caroline: And I'll make sure I'll find the link to that and put that in our show notes. Well, thank you. And then also, is it a safe assumption to say that most allergists are familiar with this?

So if someone's already seeing an allergist,

is that helpful?

Dr. Boggs: That's a great question. I would say,

on average, yes. I would say the average allergist probably has seen at least one patient with systemic mastocytosis. And I think now that new targeted precision medicine treatments are entering the space, I think that's gonna even happen more because I really think allergists are well positioned to help patients with this condition.

I think an exciting time in the allergy field because this has been a condition that hasn't really had a really targeted treatment for a while. And of course, that's changing.

So.

Caroline: And we like that. We want change.

And so now, just looking at the community as a whole, if we learn that somebody around us has, you know, systemic mastocytosis, what do you suggest? Like, how, as a community, can we support these people?

Be it a loved one, be it a coworker or even acquaintance, what can we do to keep this dial moving forward and give them personal support?

Dr. Boggs: That's a great question. I think connecting people with a care team where there is a therapeutic relationship is very important because,

you know, as a patient, myself, and, you know, family members who are patients, I think,

you know, feeling heard, feeling, you know, feeling like somebody.

Here's the narrative that I'm trying to convey or that a patient is trying to convey.

I think people generally like that. And so, and I think that's, again,

one of the reasons why these centers of excellence and reference centers have hopefully will kind of hopefully fill that gap in identifying these individuals with expertise where their patients can establish a therapeutic relationship.

So, you know, I would suggest if somebody's listening and they have a loved one, where they have, you know, mastocytosis or some version of that. Connecting people with the website,

sources of information, like the quad AI website, where there's a page specifically for systemic mastocytosis,

and connecting them with, like, really high quality information that will not steer them in. In a direction that will potentially take them more time to get to where they need to go.

Good, good information is very valuable.

Caroline: If you ask me,

that is an extremely important point to make.

So this went really fast, and we're at the end of our time together.

So before we wrap up, is there anything you would like listeners to hear from you?

Dr. Boggs: Yeah, thanks. For asking that. I guess if somebody's out there and they have cutaneous mastocytosis or anaphylaxis where they've it was really severe and they feel like they potentially should be screened for this condition.

Go to the AIM website, see what reference center or COE is closest to you and reach out to them. And I think the centers are set up for people like you and that's my hope, is that they feel comfortable enough to do that and hopefully it works well.

Caroline: Thank you. I think the message here is knowledge is power and here are the tools to find that knowledge to go on and have a successful life. So thank you so much for your time.

We know you're super busy and we appreciate your time and really appreciate you just bringing a lot of this information to light. I'm sure a lot of us today are thinking, wow, we didn't know quite a bit of what you said.

So thank you so much for bringing this to light and sharing this with us.

Dr. Boggs: Thank you, Carolyn. It's a pleasure to work with you on this.

Caroline: Thank you. We appreciate you.

Before we say goodbye today,

I just want to take a moment to thank Blueprint Medicines just one more time for their kind sponsorship of FAACT's Roundtable Podcast.

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