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Join us on as we delve into the world of mast cell disorders, including the lesser-understood mast cell activation syndrome (MCAS). Our guest, Kara Wada, a board-certified academic adult and pediatric allergy, immunology, and lifestyle medicine physician, will shed light on the complexities of these conditions. We’ll discuss diagnostic challenges, patient experiences, gender disparities in health care, and the need for increased research and understanding.

Kara Wada is a board-certified academic adult and pediatric allergy, immunology, and lifestyle medicine physician. She is CEO and founder, The Crunchy Allergist and the Demystifying Inflammation Summit, and serves as the director of clinical content for Aila Health.

She discusses the KevinMD article, “Challenges faced by patients with mast cell disorders.”

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Transcript

Kevin Pho: Hi, and welcome to the show. Subscribe at KevinMD.com/podcast, and get CME for this episode by clicking on the CME link in the show notes. Today we welcome back Kara Wada. She’s an academic adult and pediatric allergy, immunology, and lifestyle medicine physician. Today we’re going to talk about unraveling the mysteries of mast cell disorders. Kara, welcome back to the show.

Kara Wada: Thanks so much for having me again, Kevin. It’s nice to chat.

Kevin Pho: So go to KevinMD.com/podcast and you can search for Kara’s past episodes and hear her story, but today we’re going to go right into her KevinMD article. So just some context about what mast cell disorders are.

Kara Wada: So mast cells are white blood cells. They are infection-fighting cells whose symptoms we today attribute to allergy, but these cells actually evolved about 500 million years ago, well before humans were ever on the planet. And when we think in that longer history, for the majority of the time they were responsible for protecting us from parasite infections.

So they developed tools in their tool belt to protect us from those types of infections, which, if you think about a typical intestinal worm, it’s quite a bit larger than a bacteria. So that Pac-Man effect of being able to gobble up bacteria and digest them and use that method to protect us from infection doesn’t work well when you’re trying to fight off parasites. And so they developed these little packets of chemical mediators, histamine, tryptase, and probably over a hundred others, that are responsible for helping protect us from these infections. Nowadays we associate their release with allergy symptoms.

Kevin Pho: All right, so tell us what your article talks about, those disorders.

Kara Wada: So disorders that are related to mast cells, we’ve known about for a long time. We know about allergies, we know about asthma, food allergies. We also know about some of the maybe lesser known conditions, even within allergies, like chronic urticaria or chronic hives, or swelling, angioedema. And there’s also a condition that is well described, mastocytosis, where folks will have too many and also misbehaving mast cells, typically in their bone marrow, sometimes in the skin as well.

But increasingly we are starting to hear from and see patients in our clinics that don’t fit the checkbox diagnosis that we have really great criteria for, and yet they have symptoms that would perhaps suggest that mast cells are driving what they’re experiencing. And a good portion of them will feel better when we use treatments for mast cells to help try to improve their symptom burden and their quality of life.

Kevin Pho: Now talk about some of the demographic breakdown for those with mast cell disorders, and how would they typically present in a primary care clinic like mine?

Kara Wada: Yeah, so if we’re thinking about someone with, we’ll pick chronic hives, chronic urticaria and angioedema, that patient may be any place across the lifespan. We will see that in children and all the way up through adulthood, and those folks will have hives that are affecting them most days for over six weeks. For the vast majority of these folks there is not an allergic trigger to their symptoms, but rather immune dysregulation that is driving symptoms. That’s one category.

When we think of this newer category, I will say the majority of patients that I am seeing in clinic tend to look like me. They’re women, they tend to be anywhere from their 20s into maybe their 60s, and are experiencing whole-body type symptoms. They may be having hives, but they’re also having significant issues with digestion. They may be, maybe not hives, but dealing with a lot of itching, sinus allergy type symptoms.

And there are some patients as well, and we’re not sure if or what the connection is, that have what I call mast cell adjacent conditions. So things like hypermobility and problems with their autonomic nervous system, or dysautonomia, things like POTS for instance. And so we’re in this very, as Brené Brown calls it, the very messy middle of trying to understand medically and physiologically what the heck is going on, while also seeing and validating another human’s lived experience and trying to help them feel better too.

Kevin Pho: So a patient with this constellation of symptoms, they show up in my clinic and they’re not getting better despite some of the conservative things that I do, and I will refer this patient to an allergist like yourself. So now you have this patient in the exam room and you suspect some type of mast cell disorder or mast cell adjacent disorder. What’s your next step in terms of pinning down that diagnosis?

Kara Wada: Yeah, so first and foremost in medicine, it comes back to our history and our physical exam. We need to be really thorough and think about not only mast cells but the things that could look like them, right, that whole differential, whether it is things as exceedingly rare as a pheochromocytoma, to something more common like maybe a food intolerance, or even something like eosinophilic esophagitis if symptoms are more suggestive of those issues.

The other thing I’m going to do is typically order a serum tryptase level. Tryptase is one of those mediators that mast cells secrete when they are triggered, and in particular it’s one of the diagnostic criteria to have an elevated tryptase at your baseline for mastocytosis. So that’s helping categorize one element of these mast cell disorders. Tryptase is not a perfect blood marker, but it is helpful. In those folks where tryptase is normal, if they are someone who has episodic symptoms, for instance they have anaphylaxis that’s seemingly idiopathic, or we don’t have a specific trigger, it’s really helpful to get that tryptase within four hours of that event as well, if at all possible. So that is something that we will many times write a script for and print out a lab slip for patients to have to bring with them to the emergency department, or where have you.

The other thing we will sometimes and oftentimes check are urine studies. So the urine studies are a little bit finicky. You have to collect urine for 24 hours, it has to stay refrigerated, but we’re looking for other mast cell mediators that are secreted and excreted through the urinary system, so types of leukotrienes, prostaglandin derivatives. Those are the lab tools that we have currently to help us identify and really understand if someone has mastocytosis, if someone has mast cell activation syndrome as it’s currently defined, or if they fall into this category of folks with normal labs, not normal symptoms, but who respond to medications.

So going back to, we have the workup, one of the other things we’re doing during that time is trying some low-risk, significant potential for reward medications. So a long-acting H1 antihistamine, fexofenadine, cetirizine, twice a day, and seeing if that makes a difference in symptom burden or not.

Kevin Pho: So if you strongly suspect someone has mastocytosis or MCAS, what are some of the treatment options that you have available?

Kara Wada: Yeah, so first and foremost we’re thinking about symptom management. We’re using H1 and H2 blockers, so those antihistamines I mentioned, sometimes using famotidine, which is the H2 blocker that we currently have on the market. Ranitidine has been pulled. We’re also using sometimes mast cell stabilizers, so cromolyn is an oldie but a goodie. We know NasalCrom is a nose spray, comes in eye drops as well, it also comes in an oral formulation, so for those that are having a lot of gastrointestinal symptoms that can sometimes be helpful.

And then we aim to avoid, but we always have steroids in our back pocket. We have epinephrine for those folks that are more prone to having anaphylactic episodes. And for those that have mastocytosis, a good portion of those will be positive for a mutation in KIT, it’s called a KIT mutation. Those folks may benefit from tyrosine kinase inhibitors. Those are the folks that I tend to be co-managing with the amazing hematology department I get to work with, in helping those folks as well.

Kevin Pho: Now you wrote in your article that a lot of patients with these types of disorders sometimes aren’t believed by the medical institution, and then they go online and look for some alternative therapy. So what are some of the alternative things that they are encountering online, and are any of them effective?

Kara Wada: Yeah, so there are some that are, and then there also is the potential for harm. I kind of have to hold the two. I think one of the things I will most often see folks try are elimination diets, in particular the low-histamine diet. There likely are a portion of these folks who do have some intolerance to histamine that we eat. So histamine can be created and secreted by our mast cells, but it’s also just a biologically active chemical that is found naturally in many of our foods, especially preserved foods, and it’s found in a fair number of typically healthy foods like sauerkraut and kimchi and some of these probiotic-rich foods that we are encouraging folks to eat nowadays.

The problem with elimination diets is that many folks will do the elimination, they may or may not feel better, but they will stick with that restricted way of eating rather than reincorporating those foods back into their diet. And so the concern there, there tends to be a lot of fear that develops. And we know that having the least restrictive diet is going to be the least likely to lend you to deficiencies, costs less, improves quality of life, all of these things. So I think that’s one of the rabbit holes folks can go down, and having some support with your health care team, the registered dietitian, can be really helpful to parse through all of that.

There also are some supplements that may be helpful. Some folks may find taking a supplement of diamine oxidase, which is the enzyme that breaks down histamine, helpful. Some folks may find quercetin, which again is naturally found in foods like apples, antioxidant, perhaps it may be helpful. We don’t have really great data at this point to say that this is a slam dunk, or who specifically it will help. And I just always caution, as someone who, and I think we perhaps talked about this in the first episode, has had significant health consequences from delving into supplements personally, just always a little conscientious of, let’s hit the brakes, let’s consider the cost benefit, give things maybe a short try, if not helpful try something else. And yeah, those are I think the big ones that I see, are supplements and the diets.

Kevin Pho: Now with this armamentarium of treatment options, the H1 and H2 blockers, elimination diet, some of the supplements, how well can we realistically control the symptoms from these mast cell disorders?

Kara Wada: Everyone’s experiences are different. I will say that for all the patients I can bring to mind right now, we are able to get that symptom burden pretty well controlled, especially if it is being driven by those mast cells.

I think what is challenging with any chronic disease, and especially a chronic disease that is not well understood, is trying to figure out, one, are all the symptoms driven by mast cells to begin with, are there other things going on like dysautonomia that may be playing a role and needs addressing as well. I think that’s challenging, parsing out how much is from this, that or the other thing.

The other is realizing that chronic illnesses are going to ebb and flow over time, and in particular, for instance, viral infections are a really common trigger to turn up the volume on any inflammatory condition, whether it’s an autoimmune condition, chronic hives, or in the case we’re talking about, mast cell disorders. And so we have to prepare ourselves as patients and as health care professionals to weather those ups and downs together over the long term, and just be prepared to ride out the storms.

Kevin Pho: So what do we have to look forward to in terms of the future of treatment and diagnosis of mast cell disorders?

Kara Wada: Yeah, I am really optimistic. I think there are some incredibly bright scientific minds. I am not one that is super keen on getting myself into the lab and doing the science, but there are some great researchers who are, and are really looking to help us better understand mast cell biology, the interactions and interplay between our mast cells and our nervous system, interplay between our nervous system and our gastrointestinal system, how our bodies are really functioning at times, and then being able to harness those for therapeutic treatments. I think seeing how quickly science was able to pivot in the case of the COVID-19 pandemic really gives me hope that with this increased awareness and focus on these areas of science, that we will see some great breakthroughs in the coming years.

Kevin Pho: We’re talking to Kara Wada. She is an adult and pediatric allergy, immunology, and lifestyle medicine physician. Today’s KevinMD article is titled “Challenges faced by patients with mast cell disorders.” Kara, just tell us some of your take-home messages that you want to leave with the KevinMD audience.

Kara Wada: So I think first and foremost, if you are seeing symptoms that might suggest mast cells, you could certainly consider connecting with an allergist immunologist. You could try a little course of something like fexofenadine or cetirizine twice a day, see if it makes a difference.

I think one of the big things in the take-home is understanding that we as health care professionals may not have all the answers. We know more now than we ever have about the medical system, and yet we continue to get new journals in our mail several days a week, right, filled with breakthroughs. Not all of those breakthroughs are paradigm shifts, but some will be. And so leaving ourselves open, remaining curious to what the possibilities are, and being there to listen to our patients and their lived experiences, I think is really helpful and really helps us connect with them. Not only is it helpful for them, it’s also helpful for us in our practice and calling to medicine as well.

Kevin Pho: Kara, thank you so much for sharing your perspective and insight, and thanks again for coming back on the show.

Kara Wada: Thanks so much, Kevin. I appreciate it.