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Understanding the Difference Between Inherited and Immune Thrombocytopenia
84 Plays3 months ago
This episode dives into one of the most common—and most confusing—questions people with ITP ask: Why do I have it, and could it be inherited? Dr. Michele Lambert, a leading pediatric hematologist and expert in platelet disorders, breaks down the difference between inherited thrombocytopenia and immune-mediated ITP in clear, relatable terms. She explains how genetics, immune system “confusion,” family history, and targeted testing all play a role in getting the right diagnosis—and why that matters for choosing the most effective treatment. Whether you’re newly diagnosed or have lived with ITP for years, this conversation offers eye-opening insights, practical takeaways, and real hope for more personalized care in the future.
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Transcript
Introduction to ITP and the Podcast
00:00:00
Speaker
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 and inborn errors of immunity in anyone with longstanding ITP.
00:00:19
Speaker
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 from the very beginning.
00:00:33
Speaker
Welcome to the PDSA podcast, Bruised But Not Broken, Living with ITP. The diagnosis of a bleeding disorder like immune thrombocytopenia may leave you wondering, how can I really live my life with ITP?
00:00:47
Speaker
PDSA's podcast, Bruised But Not Broken, Living With ITP, brings empowering stories, the latest research and treatment updates, lifestyle tips, and answers to the real-life questions the ITP community is asking.
00:01:01
Speaker
Here's your host for this episode, Barbara Pruitt.
Barbara Pruitt's ITP Journey
00:01:14
Speaker
Well, if you have ITP, I'm sure you're like me. I have been wondering ever since I can remember, why do I have ITP?
00:01:25
Speaker
I think it's a little bit like we're playing detective. We're trying to figure out, what did I do to get ITP? Why do I have it and my siblings don't have it? Is this something that I could have prevented?
00:01:37
Speaker
Is it something that I did wrong? I know being diagnosed at the age of four, my mother worried about that her whole life. What did she do wrong? And I told her, mom, you didn't do anything wrong.
00:01:51
Speaker
So one of the things that what I want to talk about today inherited trauma.
Guest Introduction: Dr. Michelle Lambert
00:01:57
Speaker
inherited ITP versus immune thrombocytopenia. And we're very lucky to have with us today, Dr. Michelle Lambert as our guest, and she will be filling us in on the difference between them.
00:02:12
Speaker
Dr. Lambert is a pediatric hematologist at the Children's Hospital of Philadelphia, and she's an associate professor of pediatrics at the University of Pennsylvania.
00:02:24
Speaker
She leads the Pediatric Platelet Disorder Program, And she focuses on inherited and immune-related platelet conditions with a particular interest in how genetics can shape the diagnosis and care of ITP patients.
00:02:42
Speaker
Dr. Lambert has also previously chaired the Pediatric ITP Consortium of North America. And we are very grateful that she is now the chair of PDSA's Medical Advisory Board.
00:02:57
Speaker
So thank you, Dr. Lambert, for joining us today. This is a privilege for us, and I know you're very busy, and i can't wait to hear you filling us in on all of these issues, these questions.
00:03:10
Speaker
Well, thanks so much for having me, and thanks for that kind introduction. i'm looking forward to this conversation. Let's start with the
Understanding Platelet Disorders
00:03:17
Speaker
basic. What's the difference between inherited platelet disorders and immune-mediated platelet disorders like ITP?
00:03:26
Speaker
So inherited platelet disorders are the result of changes in Your genes that are important for making platelets, either megakarycytes, which are the cells in the bone marrow that go on and make the platelets, or within the platelets themselves as they're being formed from the megakarycyte in the bone marrow or being released by the megakarycyte in the bone marrow to make your platelets.
00:03:53
Speaker
Those are inherited platelet disorders. They're primarily a platelet problem. Immune-mediated platelet disorders are disorders in which you have totally normal production of the platelets, like that whole mechanism is all working just fine.
00:04:09
Speaker
But instead, your immune system is attacking your platelets and removing them from circulation sooner than they normally would be. Normally platelets live about seven to 10 days. And when you have immune thrombocytopenia, the platelets live for less than that.
00:04:27
Speaker
And sometimes even the immune system attacks the cells in the bone marrow, the megakaryocytes to keep them from making platelets as well too. So it's an acquired problem. You weren't born with it. It's not something that you have as a result of a change in how the platelets are made, but it comes on at some point in your life and then lasts for as long as the immune system's confused.
Challenges in Treating ITP
00:04:50
Speaker
As long as our immune system's confused. Have they figured out a way how to unconfuse our immune system? Well, I mean, I think some of the medicines try to do that to re-educate the immune system or to help the immune system to recognize that platelets are self and not some virus or something like that.
00:05:10
Speaker
But some immune systems are really stubborn and they just want to stay confused and they don't respond to those things or they don't relearn. Okay. All right. That sounds like a few people I know where treatments have not been so successful.
00:05:27
Speaker
Yeah. And ITP, like you said, the immune system attacks your platelets. How does that differ from other inherited platelet conditions?
00:05:37
Speaker
Like you said, but not just ITP, but I mean, are there other platelet conditions that, how how does the immune system affect those? So most of the other platelet disorders are not the result of destruction of platelets. So you might have a low platelet count or maybe your platelets don't work as well and they're not as sticky as they should be.
00:05:59
Speaker
Those disorders, typically the immune system is not playing a role in taking out the platelets. And so it's really that you're not making the platelets well. And there's a problem with actually production of the platelets.
00:06:15
Speaker
I think of platelets a little bit like chocolate chip cookies. So inside your chocolate chip cookie, you got to have the right amount of chips. It's got to be the right size cookie. It's got to have, you know, in a really good chocolate chip cookie. In my mind, you also have some walnuts and some other things inside. So you have all the right granules inside your platelets.
00:06:34
Speaker
Those granules got to be properly distributed in the platelets. And then um the platelet has to be the right size and shape. So if you have, you know, those big giant cookies, they just don't taste the same as a regular normal size chocolate chip cookie.
00:06:48
Speaker
Yeah, and if they're misshapen, they don't work the same. I love that analogy. That makes it so simple. It does. It makes it understandable.
Diagnosing ITP vs. Inherited Disorders
00:06:58
Speaker
What is something that you specifically look for when you have an ITP patient that makes you think that, you know what, maybe this is inherited and maybe this isn't immune?
00:07:10
Speaker
Or do you assume when you get a referral that it is immune thrombocytopenia? What do you do? So I think there are a couple of things that make me lean more towards immune thrombocytopenia and then some things that make me lean more towards an inherited thrombocytopenia or low platelet count.
00:07:29
Speaker
For inherited disorders, if there's a family history of other people in the family who have a low platelet count, that's more likely to be a problem with the platelets than it is to be itp Also, if the platelet count was never very low and has always been sort of moderately low, around 100 or 75,000 and never changes, no matter what you do, you take steroids, you do IVIG, you do any other medicine and the platelet count doesn't change.
00:08:00
Speaker
That also suggests to me that maybe you don't have itp And then the last thing is bleeding symptoms. So if you have a lot of bleeding symptoms, your platelet counts like 50,000 or 30,000, and you're actually bleeding a lot, that suggests to me that something's not right about how the platelets work, that they're not as good at sticking together as they should be, and makes me think about inherited platelet disorders.
00:08:29
Speaker
Well, I know on previous podcasts, We've talked about the importance of a family history. And it's important not just for people that have ITP, but for everyone in your family, you should really, if you can, know what your parents or grandparents passed from, what your siblings had, different disorders or diseases, even in first cousins and aunts and uncles. um that That is such an important component as far as diagnosing ITP.
00:09:03
Speaker
And here's a prime example, like you're saying, because you you probably quiz people. Do you find that when you have a new ITP patient, a child, are the parents usually kind of like, oh gosh, I don't know what what so-and-so died of? Are there a lot of questions or do people usually have a pretty good idea?
00:09:24
Speaker
It depends a little bit from family to family, but what I find is that maybe they don't have that history at their first visit, but the next visit, usually they'll come in and they'll be like, oh, I know you asked me about cancers in the family or leukemia, and I didn't know, but my grandfather had leukemia. Or...
00:09:44
Speaker
asking about infections or if any children have died of infection is one of my questions always. And sometimes they'll come back and i'll they'll say, actually, my aunt, nobody told us, but we had an aunt who died when she was an infant or a child of infection or leukemia or something like that. So that often comes out in a subsequent visit, not always the first time.
00:10:07
Speaker
Okay. then Then they delve into that and start asking questions, which is important. So if you're listening to this podcast, start asking questions and get that information for yourself and and your other family members. It really is an important thing to have on hand for a future diagnosis or whatever.
Genetic Testing and Its Role
00:10:26
Speaker
Testing can be really complex. If you're thinking that this may be an inherited situation, what kind of testing do you delve into?
00:10:38
Speaker
It depends a little bit on which way the history and the physical exam might be leading me. So if, for example, there's a strong family history of a lot of people with infections or immune autoimmune disease, that actually could be an inherited problem in the immune system, causing ITP, regular immune thrombocytopenia, where your immune system's confused.
00:11:03
Speaker
But that could be inherited because there's a lot of autoimmune disease in the family. So that's one type of thing. In those patients, we'll look at how the immune system is working, and then we'll talk about sending genetic testing to look for problems that can be inherited in the immune system.
00:11:20
Speaker
For those patients who have a strong family history of people with low platelet counts, but not necessarily other things that are like infections or anything like that,
00:11:31
Speaker
then i typically will look for genetic changes that can cause platelet disorder. So basically genetic testing is often on the table for either situation, but it's a matter of what genes are we looking at and how many genes do we need to look at.
00:11:50
Speaker
Well, I think this information is so amazing because I know Previously, in in the course of treatments of ITP, it's kind of been hit or miss. Well, we'll try this and we'll see if this works. And if it doesn't, we got this, we're going to try that and we'll see if that works. And every treatment has its own problems.
00:12:10
Speaker
You know, people can have different side effects. They can respond differently and and everything takes time and it takes money and insurance verification. And there's all these steps that we have to go through in order to get treatment.
00:12:23
Speaker
So with what you're finding in the genetics, is that limiting some of the treatments that would normally be available to ITP patients? How does that come about?
00:12:38
Speaker
Well, so if we find an inherited platelet disorder... like for example, MYH9-related disorder RUNX1 or something like that, we know that doing things like steroids, IVIG, and splenectomy are not going to work because it's not a problem with the immune system that's making your platelet count low. It's that your megakaryocytes in your bone marrow don't make platelets normally, and so your platelet count is going to be low.
00:13:05
Speaker
and treating the immune system isn't going to work. But for some of those patients who have inherited platelet disorders, interestingly enough, the TPO receptor agonists, remiplistin, altrombopeg, avatrombopeg, lucitrombopeg, all of the ones that are now being developed in that line, those drugs might work for some of those low platelet disorders that are inherited platelet disorders. And so I think for that reason, it's important to know so you don't take out the spleen of somebody who's not going to respond to getting their spleen taken out.
00:13:40
Speaker
That's important. And that is important because we need our spleens. It's there for a reason. It actually is a part of the immune systems. So we like for the spleen to stay in if we can keep it in.
00:13:52
Speaker
Sure. Well, I think this is terrific that you've been able to determine that that certain treatments will not be working for certain patients. Once you figure out if they are inherited or not,
00:14:05
Speaker
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.
00:14:19
Speaker
And some of those are very targeted and have 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.
00:14:32
Speaker
So I think 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
Misdiagnosis and Accurate Diagnosis
00:14:40
Speaker
treatment is. We can just say, oh, here's the problem in your immune system.
00:14:44
Speaker
So let's give a drug that targets that problem in the immune system. 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?
00:15:05
Speaker
Yeah, the specific immune dysfunction, right? Okay, that's wonderful. Have you come across, I mean, i'm 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?
00:15:29
Speaker
So occasionally I'll see a patient who has an inherited platelet disorder who's been treated like ITP or who has, yeah, an inherited, most often an inherited thrombocytopenia.
00:15:45
Speaker
I think because those disorders are thought of as being incredibly rare, an 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.
00:16:08
Speaker
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?
00:16:21
Speaker
Maybe we need to look for something else. Do we have the right diagnosis? And that's a reasonable question to ask your doctor. I like it when patients ask me that. Yeah, I would think so. It means that they're thinking,
00:16:34
Speaker
further and they're they're trying to figure it out. Also, like um like I said, we all, patient-wise, we tend to be detectives. We're always thinking about what else could this be?
00:16:46
Speaker
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.
00:17:02
Speaker
What have some of your findings shown? I'm not the only one who's doing that work, and I stand on the backs of giants in doing this. and I think I've been lucky enough to have some really great collaborations with the ITP consortium and um with other investigators around the world, actually.
00:17:23
Speaker
So we have found that there are some patients who are misdiagnosed with ITP who really have inherited platelet disorders. And on the adult side, that's still not an insignificant number of patients. It's somewhere in the order of 10% of patients who have an inherited platelet disorder who are initially diagnosed with ITP.
00:17:48
Speaker
So I think that's one of the reasons it's really important to ask if you're not behaving the way you're expecting that you will be responding to meds and stuff. So you're saying that there's 10% of the adult population studies have found?
00:18:02
Speaker
That is misdiagnosed. And that's data, I think, from Dr. Donnie Arnold in Canada, who's also a PDSA medical advisor. But um he has shown that in adults, when we follow them over time and do more expanded testing, that it may be that high, that up to 10% of patients would have a different diagnosis.
00:18:26
Speaker
In pediatrics, we don't have those specific studies, actually. But what we're finding is that potentially a lot of pediatric patients may have errors in immunity, inborn errors of immunity that drive their development of ITP in childhood.
Research and Findings on ITP
00:18:44
Speaker
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. And that's wonderful news, that is.
00:18:56
Speaker
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 i know that.
00:19:08
Speaker
And congratulations, 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.
00:19:21
Speaker
I'm sure this will spark a lot of conversations, don't you think? 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. Well, that's wonderful.
00:19:50
Speaker
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 um I know here you're working with someone in Boston and I know you work with people from other areas too. And and I think that's really wonderful and generous because sometimes, you know, we wonder as a patient,
00:20:15
Speaker
well, are they sharing information? You know, are they really looking towards the same goal and letting each other know how close they're getting to that goal? So it's it's very wonderful to hear that. Now, the inborn errors of immunity, which you alluded to this is something that shows up with your genetic panels that are done, correct?
00:20:37
Speaker
Well, it depends on which panels you do. And I think that's part of why it's important to kind of figure out which direction you need to go with your patients. Some of the platelet disorders are on an IEI panel because there's a handful of those that can actually also cause problems with the immune system.
00:20:55
Speaker
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 genes.
00:21:08
Speaker
Okay. And I know that i've 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
Genetic Risks and Autoimmune Disorders
00:21:22
Speaker
is higher. You might have two or three.
00:21:24
Speaker
Is that related to the IEI inborn errors of immunity? 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.
00:21:46
Speaker
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.
00:21:57
Speaker
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.
00:22:15
Speaker
Once you've done that once, 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.
00:22:27
Speaker
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 um or even lupus.
00:22:40
Speaker
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.
00:22:56
Speaker
So is that something you're hoping that can be figured out in the future? I'm hoping that that's something that we'll be able to figure out in the future. Yeah. That would be wonderful.
00:23:06
Speaker
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.
00:23:27
Speaker
So that's why we have to talk together and make sure that we're all asking important questions together. 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?
00:23:48
Speaker
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 not an issue as long as you're careful.
00:24:01
Speaker
But 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.
00:24:16
Speaker
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.
00:24:28
Speaker
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.
00:24:48
Speaker
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.
00:25:04
Speaker
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.
00:25:15
Speaker
That confusion in the immune system could be something that is heritable. That's why i like to look for the and inborn errors of immunity in anyone with longstanding ITP.
00:25:26
Speaker
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 from the very beginning. And so for most patients, we don't think of it as inherited.
00:25:43
Speaker
If you have ITP, your children are probably not going to have ITP and they're not really considered to be at risk. That's good to know. Question. Okay. I have ITP and we're assuming that it's an inborn error 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 a plethora of different things that are autoimmune.
Genetics and Aging
00:26:12
Speaker
So is it right to think that, okay, those family members also had some kind of inborn error of immunity? Yeah. that gave them those issues too.
00:26:23
Speaker
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.
00:26:36
Speaker
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.
00:26:53
Speaker
So I think it might not be something that you're born with, a change in how your immune system works. It could be that with aging, your immune system is changing.
00:27:04
Speaker
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.
00:27:16
Speaker
Because I'm going to tell you something different. If we find some change in how your immune system works, that is... a genetic, then I'm going to say, well, your kids are at risk for eventually developing additional autoimmune disease as well, potentially.
00:27:31
Speaker
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. 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.
00:27:51
Speaker
Now, when you have a patient with ITP and you're doing genetic testing on them, do you ever recommend doing the same type of testing on their siblings or the parents?
00:28:02
Speaker
Depends on what we find. Yeah. Oh, okay. Because 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 if that's indicated?
00:28:17
Speaker
Like I said, it depends on what we find. 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.
00:28:35
Speaker
If we find a change that's inherited from mom, then we do usually think about looking at the siblings and whether or not they're at risk too. Okay. So that the parents can be aware, you know, not that it's going to happen, but they're, at least they have that in the back of their mind, hopefully, to be observant because, you know, kids are active. They come home with bruises and bumps, you know, but- Well, I'm just going to say life gets busy too. So maybe though, if you know that you're at risk, that you you see that increased bruising, you go to the doctor sooner rather than like when you get around to it.
00:29:13
Speaker
This whole topic is so interesting to me. i I think it's just so futuristic too, because none of this was information available, you know,
Advancements in Genetic Research
00:29:22
Speaker
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.
00:29:48
Speaker
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.
00:30:03
Speaker
Wow, it is. I mean, for you to say that too, that's that's phenomenal. 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? don't think so.
00:30:17
Speaker
Okay. Well, listen, we appreciate all that you do and all your research and and your collaborators' research is is just for the benefit of our ITP community and others, of course, that have immune dysfunction of some sort.
00:30:32
Speaker
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 Thank you so much. It's been so much fun. I really appreciate the opportunity.
00:31:04
Speaker
Oh, great. And we'll have to find out how things go at ASH when you have this presentation. I'm i'm going to be curious about that. I'll have to ask you later. All right.
Lifestyle Tips for Managing ITP
00:31:15
Speaker
Thanks again, Dr. Lambert. Thanks.
00:31:21
Speaker
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.
00:31:37
Speaker
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.
00:31:51
Speaker
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,
00:32:06
Speaker
it's very important to know what medical conditions they have. But what if you can't get that information? What if you're adopted?
00:32:17
Speaker
or what if your family members have passed? This might be a reason for you to consider getting genetic testing. You need to talk to your doctor about it.
00:32:27
Speaker
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.
00:32:43
Speaker
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.
00:32:58
Speaker
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.
00:33:14
Speaker
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.
00:33:27
Speaker
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. That's it for now, and I hope to see you next time.
00:33:46
Speaker
But until then, I'm wishing you lots of healthy platelets.
Conclusion and Resources
00:33:55
Speaker
Thanks for listening to the PDSA podcast.
00:33:57
Speaker
Bruised but not broken. Living with ITP. made possible by our presenting sponsor, Amgen.
00:34:06
Speaker
Special thanks to Gus Majorga for composing our theme music.
00:34:11
Speaker
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.
00:34:29
Speaker
As always, please speak with a healthcare 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.
00:34:46
Speaker
Remember, you are not alone.