Dr. Michele Lambert

Thank you. And that's the reason, too, to do the immune testing and to look at whether or not there's a problem in the immune system. Because the really nice thing is the immunologists have started developing all sorts of treatments for their diseases. And some of those are very targeted and have and less side effects that way. Because the closer you target the defect that you actually have, the less other things that can happen that you have. So, I think and it's important to look for those things too, because maybe then we don't need to go through four different treatments to figure out what the right treatment is. We can just say, oh, here's the problem in your immune system. So let's give a drug that targets that problem in the immune system.

Barbara Pruitt 

That's terrific that you can actually have targeted care and with a feeling of confidence that this is going to work for this specific immune issue or specific, what would it be, a genetic issue that you're finding?

Dr. Michele Lambert

Yeah, the specific immune dysfunction, right?

Barbara Pruitt 

Yeah. Okay, that's really; that's wonderful. Have you come across, I mean, i I know that you get referred patients all the time. Have you come across many patients that have been misdiagnosed and been given a lot of things that you find out later that never were going to work because of their genetic profile that you were able to get on them?

Dr. Michele Lambert

Yeah. So occasionally I'll see a patient who has an inherited platelet disorder, who's been treated like ITP and or and who has, yeah, an inherited, most often an inherited thrombocytopenia. And I think because those disorders are thought of as being incredibly rare. and ITP, while it's a rare disease, is a little bit more common. People often don't think to test for them, even when a patient isn't necessarily acting exactly the way you expect an ITP patient to act. But I think if that happens, if your doctor says to you, wow, your ITP is weird, it's not acting the way ITP is supposed to be acting, then that is a clue to you to say, should we do some genetic testing? Maybe we need to look for something else. Do we have the right diagnosis? I think, and that's a reasonable question to ask your doctor. I like it when patients ask me that.

Barbara Pruitt 

Yeah, I would think so. It means that they're thinking further and there they're trying to figure it out also.

Dr. Michele Lambert

Right.

Barbara Pruitt 

Like I said, we all, patient-wise, we tend to be detectives. We're always thinking about what else could this be?

Dr. Michele Lambert

Yeah.

Barbara Pruitt 

Now, I know you do a lot of research in genetics and we're very fortunate that you do that because i think it opens so many doors as far as understanding the disease or diseases, and then following it up with the treatment, of course. What have some of your findings shown

Dr. Michele Lambert

So, I think that's one of the reasons it's really common to are really important to ask if you're not behaving the way you're expecting that you will be responding to meds and stuff.

Barbara Pruitt 

So, you're saying that there's 10% of the adult population is what the studies have found?

Dr. Michele Lambert

That is misdiagnosed. And that's, yeah, and that's data, I think, from Dr. Donnie Arnold in Canada, and who's also a PDSA medical advisor, but you um he has shown that um ah that in adults, when we follow them over time and do more expanded testing, yeah, that it may be that high that up to 10% of patients would have a different diagnosis.

Barbara Pruitt 

Right.

Dr. Michele Lambert

Yeah. In pediatrics, we don't have those specific studies, actually. But what we're finding is that that potentially a lot of pediatric patients um may have errors in immunity, inborn errors of immunity that drive their development of ITP in childhood. And so that data we'll be talking about at an upcoming hematology meeting, and I think it's really interesting and will help us to better target our treatment.

Barbara Pruitt 

That's wonderful news, that is. And the fact that you and others are presenting at the annual conference of the American Society of Hematology is really quite an honor. I know that.  And congratulations, um because what you're going to be presenting is going to be very eye-opening, I'm sure, for the 40,000 hematologists from all over the world to be hearing about. I'm sure this will have a lot of, kind spark a lot of conversations, don't you think?

Dr. Michele Lambert

Yeah, I'm hoping so. That work's going to be presented by Dr. Emily Harris from Boston Children's, and she's been running that project. And I think that's what I'm hoping, is it's going to spark a lot of conversation and get people really thinking and making sure that We're doing all the right things for our patients so that we minimize side effects of medicines and minimize the roller coaster of ITP as much as we can.

Barbara Pruitt 

Well, that's wonderful. And I'm so happy to hear, and I do hear it from our medical advisors, that there is a lot of collaboration in the ITP research world, which is wonderful because I know here you're working with um someone in Boston and I know you work with people from other areas too. And I think that's really wonderful and generous because sometimes, you know, we wonder as a patient, well, are they sharing information? You know, are they really looking towards the same goal and letting each other know how far they're, how close they're getting to that goal? So, it's very wonderful to hear that.

Now, the born errors of immunity, which you alluded to, this is something that shows up with your genetic panels that that are done, correct?

Dr. Michele Lambert

Well, it depends on which panels you do. And I think that's part of why it's important and to kind of figure out which way you think you need, which direction, which direction you need. I think and i some of the some of the platelet disorders are on an IEI panel because there's handful of those that can actually also cause problems with the immune system. But in general, if you think it's an inherited platelet disorder, that's one panel of genetic tests. And if you think it's an IEI, that's a different panel that looks at different things, looks at different genes.

Barbara Pruitt 

Okay. And I know that I've been told in the past, and I don't know if it's true with everyone, but if you have immune thrombocytopenia, the chances of having another immune disorders is higher. You might have two or three.

Barbara Pruitt 

And is that related to the IEI inborn errors of immunity?

Dr. Michele Lambert

You know, I think what happens with ITP is we think in most patients, something triggers the immune system to start recognizing your platelets as being foreign and not being part of yourself. And so, there's something that's subtly different about the immune system that gets ITP than the immune system that never does that and never gets confused like that.

That's part of why we, in our group here in the ITP consortium, think it's really important to look for inborn errors of immunity in patients who have ITP, because the majority of people in the world are never going to attack their platelets with their immune system. Once you've done that once, you've already lost, we call it losing tolerance. You've lost the ability to tell the difference between self and not self. The likelihood that it happens again is higher and so, we do see patients with ITP who then develop a second autoimmune disease or a third one, even thyroid disease or celiac disease or or even lupus.

I think that's why It's so important to me to try to identify those changes in how the immune system responds, because maybe if we fix that, rebalance how the immune system is responding, we can keep those second autoimmune diseases from developing.

Barbara Pruitt 

So, is that something you're hoping that can be figured out in the future?

Dr. Michele Lambert

I'm hoping that that's something that we'll be able to figure out in the future, yeah.

Barbara Pruitt 

I know that would be wonderful.

Dr. Michele Lambert

But that's why those collaborations are so important because this is a rare disease and then watching what happens over time to patients with these rare diseases is really difficult if you're doing it all by yourself with just one center and because any one pediatric hematologist may not see so many ITP patients. 

Barbara Pruitt 

Right. 

Dr. Michele Lambert

And so that's why we have to talk together and make sure that we're and there that we're all asking important questions together. Yeah.

Barbara Pruitt 

That you're finding similarities and collaborating, like you said. I know as a parent of an ITP patient or an ITP patient themselves, they're going to be concerned about, okay, if I have children, am I going to pass this on? And I know we have covered in the past and podcasts about ITP and pregnancy, and it's definitely something that is achievable. It's not an issue as long as you're careful.

Should patients be very aware or concerned about passing this on? If it's considered immune, thromocytopenia, or if it is inherited, there is a higher chance, I'm assuming.

Dr. Michele Lambert

Yeah. So, if it's an inherited thrombocytopenia, there is definitely more risk of passing along that change in your genetics that causes the differences in the platelet count.

And genetic diseases can be autosomal recessive, meaning that both copies of the gene have to be changed and not working in order to have the disease, or autosomal dominant, meaning that you only need one abnormal copy of the gene in order to show the low platelet count. So, if it it's important to figure out which gene it is so we can tell you what your risk is for your future children or even for any other children that you might have. Like if you're a parent of a child with a thrombocytopenia, whether or not you're at risk of having other children that will have thrombocytopenia. So that's the inherited platelet disorder side. With ITP, we don't really think of it as an inherited disease because it's when the immune system gets confused. That confusion in the immune system could be something that is heritable. That's why I like to look for the inborn errors of immunity in anyone with longstanding ITP. But for the most part, we don't think of ITP as an inherited disease. because it's acquired. It's not because there's something wrong with the way that your genes are um ah from the very beginning. And so, for most patients, we don't think of it as inherited. If you have ITP, your children are probably not going to have ITP and um they're not really considered to be at risk.

Barbara Pruitt 

Well, that's good to know.

Dr. Michele Lambert

Yeah.

Barbara Pruitt 

Question if, if, okay, I have ITP, and we're assuming that it's an inborn era of immunity. And when I look back in my family history, which is something, again, that you say is so important, there's diabetes, there's thyroid issues, there's, you know, ah plethora of different things that are autoimmune. So is it right to think that, okay, those family members also had some kind of inborn air of immunity that gave them those issues too.

Dr. Michele Lambert

I think eventually, someday, we might understand how the immune system works well enough to be able to find those subtle changes in everybody and in every family. But also, thyroid disease and diabetes are not that uncommon in adults in general. And the older you are, the more likely you are to get those things because the immune system does sort of start to be a little bit wonky as you get older anyway. So, I think it might not be something that you were that you're born with, a change in how your immune system works. It could be that with aging, your immune system is changing and as a result of that, you developed an autoimmune disease. So, I think that's part of why though the genetics are important to me, because I do think that we need to know the difference between those two things.

Barbara Pruitt 

Right. Okay.

Dr. Michele Lambert

Because I'm going to tell you something different. If I find If we find some change in how your immune system works that is genetic, then I'm going to say, well, your kids are at risk for eventually developing additional autoimmune disease as well, potentially. But if we don't find anything like that, then maybe it's just that your immune system with aging is developing additional autoimmune changes. um That's not the reason you had ITP when you were a child though. And that's one of the reasons that we think it's so important to look in children who get ITP, particularly chronic ITP.

Barbara Pruitt 

Now, when you have a patient with ITP, do you, and you're doing genetic testing on them, do you ever recommend doing the same type of testing on their siblings or the parents on the situation?

Dr. Michele Lambert

It depends on what we find. Yeah.

Barbara Pruitt 

Okay. That would, to me, be a very appropriate move if depending on what you find, that you go ahead and you spread out to the family members, if that's indicated.

Dr. Michele Lambert

Yeah. And it depends, like I said, it depends on what we find. Sometimes we find a change. Um, if we, occasionally we will sequence mom, dad, and the child all at once at the very beginning. And if we find a change that's only in the child and neither parent has it, then we don't need to look at anybody else. We don't need to look at siblings because they're unlikely to have it. If we find a change that's inherited from mom then ah and then we do usually think about looking at the siblings and whether or not they're at risk too.

Barbara Pruitt 

Okay, so that the parents can be aware. And, you know, not that it's going to happen, but they're, at least they have that in the back of their mind, hopefully, just to be observant, because, you know, kids are active, they come home with bruises and bumps, you know.

Dr. Michele Lambert

Well, was just going to say life gets busy too. So maybe though, if you know that you're at risk, that you see that increased bruising, you go to the doctor sooner rather than like when you get around to it.

Barbara Pruitt 

Right. Well, this, this whole topic is so interesting to me. I think it's just so futuristic too, because none of this was information available, you know, 20 years ago. I mean, every day it seems like something new is being learned, which is wonderful. And I, and I have such hope and dreams that there will be answers for everyone that suffers from a low platelet count in the future, whether it's inherited, whether it's immune, whether who knows what the cause is, but I i feel hopeful that there will be some answers out there in the future. Wow.

Dr. Michele Lambert

Yeah, you're not wrong about that, actually. We describe three new platelet disorders a year and probably 10 to 20 new inherited immune disorders every year. So, it really is exploding.

Barbara Pruitt 

It is. I mean, for you to say that too, that's phenomenal. um Is there, after we've talked about all this, is there anything else you want to add that maybe I i missed or we didn't talk about?

Dr. Michele Lambert

I don't think so.

Barbara Pruitt 

Okay. Well, listen, we appreciate all that you do, and all your research and your collaborators' research is just for the benefit of our ITP community and others, of course, that have immune dysfunction of some sort.

Dr. Michele Lambert

Yeah.

Barbara Pruitt 

And thank you so much for being on the podcast today. I know you've illuminated a lot of minds out there that are listening to this. And I definitely; I want to have you back again, because every time I talk to you, I learn a lot and it's wonderful to share it. And you are so generous with your time and your approach and the way you describe things is so reachable and understandable. And we really appreciate it. So, thank you for being with us.

Dr. Michele Lambert

Thank you so much. It's been so much fun. I really appreciate the opportunity.

Barbara Pruitt 

Oh, great. And we'll have to find out how things go at ASH when you have this presentation. I'm going to be curious about that. I'll have to ask you later. All right. Thanks again, Dr. Lambert.

Dr. Michele Lambert

Thanks.

Narrator 

How do you live your life with a bleeding disorder like ITP? From working in the kitchen with knives, to navigating sharp corners in your house, going out to eat in a restaurant, traveling on a plane, attending a sporting event, even dancing at a wedding. ITP patient, Barbara Pruitt, shares her tips and tricks for moving through life with ITP for more than 60 years. Here's her lifestyle lesson for the day. 

Barbara Pruitt 

Well, Dr. Lambert stressed the importance of having a good family history. I know this is something I've covered in previous podcasts. It's not just knowing what family members died from, but actually it's very important to know what medical conditions they have.

You need to talk to your doctor about it. Now keep in mind that most of us have immune thrombocytopenia. But if there is a chance that yours could be inherited, it might be worth your while to have that conversation. Something that was interesting that Dr. Lambert said, if you have inherited thrombocytopenia and get a splenectomy, it's just going to leave you without a spleen. And if you have inherited thrombocytopenia, there's quite a few treatments out there that are not going to be effective for you. and there are other treatments that will be more effective. That's great information to know. I know I've had my genetic testing done and it pretty much confirmed that I have immune thrombocytopenia like most of us. But if genetic testing is on your mind, talk to your doctor about it and see where it leads. If not now, Maybe it's something in the future that you might want to consider.

Well, that's it for now. And I hope to see you next time. But until then, I'm wishing you lots of healthy platelets.

Narrator 

Thanks for listening to the PDSA podcast, Bruised but Not Broken, Living with ITP. Made possible by our presenting sponsor, Amgen. Special thanks to Gus Mayorga for composing our theme music. To see what's coming up, visit our website at pdsa.org and subscribe wherever you get your podcasts. Please share this podcast through social media with anyone who you think might benefit from the information and stories we share with the ITP and other platelet disorders community. As always, please speak with a healthcare care professional before making any treatment decisions, but know that pdsa.org is a wealth of information and resources to help you navigate life with ITP and other platelet disorders. Remember, you are not alone.