PediaCast 166 * Von Willebrand Disease
Von Willebrand Disease
- Dr Sarah O'Brien
Announcer 1: This is PediaCast.
Announcer 2: Welcome to PediaCast, a pediatric podcast for parents. And now, direct from the campus of Nationwide Children’s, here is your host, Dr. Mike.
Dr. Mike Patrick: Hello everyone and welcome to PediaCast, a pediatric podcast for moms and dads. It is Episode 166 for Tuesday June 28th, 2011. And we’re calling this one, Von Willebrand Disease. Now, that maybe kind of a funny name for a lot of people out there, but it’s a common condition.
And so we’ve invited Dr. Sarah O’Brien – she’s a hematologist here at Nationwide Children’s – in to the studio to talk to us about Von Willebrand Disease. So we’ll get all the who, what, when, where, why, how, all that, about the disease coming up.
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All right, so let’s get started. I am joined in the studio today again by Dr. Sarah O’Brien. Dr. O’Brien is a practicing pediatric hematologist in the Nationwide Children’s Hospital Hemostasis and Thrombosis Center. She is an investigator in the Center for Innovation and Pediatric Practice at Nationwide Children’s Research Institute and she’s an assistant professor of Pediatrics at the Ohio State University College of Medicine.
So, welcome to PediaCast, Dr. O’Brien.
Dr. Sarah O'Brien: Thank you.
Dr. Mike Patrick: Really great to have you here. So, hematologist, even that word, you know, to some people is a little bit intimidating. What is a hematologist?
Dr. Sarah O'Brien: Well, a hematologist is someone who takes care of any disease that involves the blood. And we always like to point out that blood is actually the largest organ in the body. So, we’re very proud of that.
Dr. Mike Patrick: Right. And in particular, your kind of specialty within hematology is bleeding and clotting…
Dr. Sarah O'Brien: Exactly.
Dr. Mike Patrick: … kind of stuff. And Von Willebrand Disease, which we’re going to talk about here in just a minute, is one of the disorders where you get increased, too much bleeding. But there’s also diseases that cause too much clotting. And so, this whole bleeding, clotting thing is a balance, isn’t it?
Dr. Sarah O'Brien: Exactly.
Dr. Mike Patrick: It’s complicated.
Dr. Sarah O'Brien: I try to explain it to my patients and their families just like you learn about checks and balances in the government system, your body has the same checks and balances when it comes to bleeding and clotting. And we take care either one of those ends can get out of whack sometimes and that’s what we do.
Dr. Mike Patrick: Right. And I know that a lot of people in our audience have science background. We have nurses and pediatricians and pediatric residents. So we’re going to try to keep this talk, you know, definitely at a level parents can understand, but with enough meat that it’s kind of interesting too for those in the medical profession.
And having said that, the coagulation cascade, I remember as a medical student, was like very intimidating because there's just so many steps and levels and places where things can go wrong. So, you know but it makes it interesting, too.
Dr. Sarah O'Brien: Exactly. And that’s something that… I do a lecture for the medical students and I always show the coagulation cascade when I learned it in the late ‘90s compared to the coagulation cascade today which has about 50 more things on it.
Dr. Mike Patrick: Oh, my goodness.
Dr. Sarah O'Brien: So it just continues to grow.
Dr. Mike Patrick: So, Von Willebrand Disease, this is just one of the many things that can go wrong with the whole clotting system.
Dr. Sarah O'Brien: Yeah.
Dr. Mike Patrick: So just sort of in general if you can define Von Willebrand Disease, what exactly it is?
Dr. Sarah O'Brien: So, Von Willebrand is the name of one of our clotting factors. We have about 12 or 13 clotting factors in our body that all work together to help prevent excess bleeding. And Von Willebrand is the clotting factor that’s most commonly low in patients.
Dr. Mike Patrick: OK. So, this is a very common condition. And I think that’s important to point out because there’s probably a lot of people out there who have this disease and don’t know they have it.
Dr. Sarah O'Brien: Exactly. And how common it is, is up for debate. This is a disease that we might overdiagnose a bit. But kind of a general number to keep in your head is we think about 1% of people have Von Willebrand Disease and most of them probably don’t know they have it.
Dr. Mike Patrick: Now, is it equal – men and women, boys and girls affected – or more one than the other?
Dr. Sarah O'Brien: It’s actually equal. There’s a big misperception that it’s more common in women. And sometimes, it’s even called like the women’s hemophilia, but that’s not true. It occurs equally in men and women. Women are just more likely to come to attention because we have more opportunities to bleed such as with menstrual periods and childbirth.
Dr. Mike Patrick: Right. And what about ethnic group-wise? Is there any discrepancy…
Dr. Sarah O'Brien: Yes.
Dr. Mike Patrick: … between different ethnic groups?
Dr. Sarah O'Brien: It is more common in Caucasian populations.
Dr. Mike Patrick: OK. And I had to look this up. It’s called Von Willebrand Disease because the physician who first described the condition in 1926 was Dr. Erik Adolf von Willebrand. And he was a physician in Finland at the University of Helsinki. So, just little history there.
So, you talked about – the issue is in the clotting cascade and the particular problem is with this thing called the Von Willebrand factor? Yeah, what exactly is that?
Dr. Sarah O'Brien: So, the Von Willebrand factor is a very large protein in the body. And I think the easiest way – one thing that it does that’s very important is it connects our platelets to each other. Platelets are the small cells in your blood that form a plug to help prevent excess bleeding. So Von Willebrand helps make those connections and Von Willebrand also attracts platelets to any injuries in the blood vessels. So it’s really a connecting protein that is important for a lot of those proteins in the coagulation cascade that you are talking about.
Dr. Mike Patrick: OK. So we have this big protein and its main job is to stick platelets together to form a clot. And if you remember about human genetics, proteins get coded by genes on DNA. And so there’s a lot of opportunity for the DNA to have a different program to make a different variation of these protein.
So, as I understand it, there are different types of Von Willebrand Disease, sort of base on whether you’re not making enough of the protein or you’re making a protein that’s not made quite right. Is that correct?
Dr. Sarah O'Brien: Yes. So, by far the most common kind of Von Willebrand Disease is called Type 1, and that’s when you’re simply not making enough of the Von Willebrand protein. And there’s a lot of research on this right now but we still don’t really have a handle on what the exact mutations are for Type 1.
Type 2 disease is more rare and that’s called a qualitative problem, so the Von Willebrand factor is not being made correctly. And there are several different types within Type 2 that have little nuances. But functionally, those patients appear very similar to Type 1. They may have a little bit more bleeding but it’s still a fairly mild disease.
Then the last type is Type 3 and that’s when you make almost no Von Willebrand factor. And that’s extremely rare. Each hospital that I’ve worked at, we’ve only had one or two patients that have that kind of Von Willebrand and it’s very different. Those patients have spontaneous bleeding and need a lot of intensive care.
Dr. Mike Patrick: Sure. Does the Type 3 one looked more like hemophilia?
Dr. Sarah O'Brien: It looks exactly like hemophilia.
Dr. Mike Patrick: Got you. Which we won’t go into because that’s another complicated issue.
Dr. Sarah O'Brien: I’ll come back for that one.
Dr. Mike Patrick: Yeah, exactly. So we’ve got these three different types of Von Willebrand and a variety of severity depending on the type and individual. What sort of signs and symptoms then would this condition cause? What does it look like?
Dr. Sarah O'Brien: So, one thing that I always remind families is that some people have no symptoms, which is one of the reasons why it’s difficult to diagnose this in families. If you do have symptoms, we call it mucocutaneous bleeding and that can encompass things like easy bruising, gum bleeding, nose bleeds, heavy menstrual periods, unexpected bleeding after childbirth or surgery.
But usually a patient with Von Willebrand will only have one or two of those symptoms. And it’s really not until you sit down and take a very detailed family history that all of these different symptoms will come out and you’ll begin to see a pattern.
Dr. Mike Patrick: Sure. Just for my time in being a primary care pediatrician, I can remember I was always surprised. It seemed like maybe half of the time when I would order a test to see if someone have Von Willebrand Disease because I was concerned about it. It seemed like about half the time it would come back positive, which then kind of encourages you as a doctor to start checking for it more.
OK. So, it's one of the things to think about if you are having frequent bleeding or like you’re having dental procedures and it’s taking — you're bleeding a little bit too long afterward, or you have gums that bleed easily, or you’re woman and you’re having heavy periods or you’re having more frequent periods that sort of thing. And I think it’s important that folks out there realize that these symptoms cause that because you may be the one going to your doctor and saying, "Hey, could it be Von Willebrand Disease?" Because if patients aren’t thinking about it, there’s also doctors who aren't thinking about it.
Dr. Sarah O'Brien: Exactly. And what’s tricky is that all of these symptoms are common in the general populations. So nosebleeds are very common, heavy periods are very common. So, there are different clues that we use that make us think more of a bleeding disorder. So for example, any nosebleed that lasts more than 10 minutes is very unusual. A menstrual period that lasts more than seven days is unusual.
So, we’re always trying to educate family practice and pediatricians about just kind of those red flags; about when is a nosebleed abnormal, when is a period abnormal.
Dr. Mike Patrick: Right. Got you. And what other illnesses then… Because as doctors, we think about a differential diagnosis. So if you have someone with those symptoms, so the easy bleeding or prolonged bleeding, what other illnesses can cause these same problems?
Dr. Sarah O'Brien: Well, in terms of bleeding disorders, there are two other bleeding disorders that we commonly see that look a lot like Von Willebrand Disease. One is platelet function problems where those platelets we are talking about before. You have the correct number in your blood but they’re not sticking together the way they should and making those plugs.
We also see a lot of patients who have collagen vascular diseases like Ehlers–Danlos and those are patients who are really flexible. So they can do splits and all that Cirque du Soleil stuff. And patients who are really flexible often have trouble with bruising and bleeding. So in our clinic, when we see patients with these symptoms, we always do a really good mobility exam to see how hyper-flexible they are.
So those are other bleeding disorders that are similar to Von Willebrand. And then, when patients are presenting with certain symptoms, we always look for other causes of those symptoms. So for example, nosebleeds, you may have an abnormal vessel in your nose, you may have allergies that are contributing to that. And of course, with heavy menstrual periods, we always look at the hormonal aspect of things.
Dr. Mike Patrick: Great. Now, so if you've got that in your mind and in terms of the history – that’s one way that you can differentiate between some of these different things – how do you actually end up in diagnosing Von Willebrand Disease?
Dr. Sarah O'Brien: Unfortunately, it’s not as easy as we would like it to be. There is not a test that you can do that says , "Yes, no, this person has Von Willebrand Disease." So what we do is we send a panel of tests that looks at how much Von Willebrand factor you have, how well the Von Willebrand factor is working. And we also look at Factor VIII because that’s one of your clotting factors that works in tandem with Von Willebrand.
And we take a look at those numbers and oftentimes we have to repeat tests because Von Willebrand is very dependent on how stressed you are, how much activity you’ve had that day, whether you’ve been sick recently. So, you know, coming to see a new doctor is stressful, having your blood drawn is stressful, especially when you’re a young child. So if anything is borderline, we always bring them back to re-test.
Dr. Mike Patrick: Got you. And now, let’s say you are a family practice doctor or a pediatrician and you’re working in a place that doesn’t have a big children’s hospital. And you’re worried that you have a kid who has Von Willebrand Disease. Is this the type of test that can be done at any laboratory? Or is it something that should be shipped off to a children’s hospital? What do you think about that?
Dr. Sarah O'Brien: We always recommend that it’s done at an institution such as children’s hospital, or one of our close-to-home centers, because the problem with Von Willebrand testing is it has to be processed right away. So if it’s drawn at an outside lab and the courier's late and takes a few hours to get to the lab where it’s going to be processed, you can get a falsely normal result or a falsely low result.
Dr. Mike Patrick: So, this is something that if you’re really worried that your kid has this and you want to diagnose – so you can figure out now what’s the next steps and what you do – it’s really worth the drive to get to a large pediatric center like Nationwide Children’s, that would be able to do the test and interpret it properly.
Dr. Sarah O'Brien: Right. And we field a lot of phone calls from pediatricians asking about what test to run. And we’re always glad to help, you know, because also you can order the wrong test by mistake when you’re not familiar with it. So, we’re always happy to help coordinate that. It doesn’t necessarily mean we have to see the patient until we know what the lab results are.
Dr. Mike Patrick: Now, here at Nationwide Children’s, it's a little easier because you can just order a Von Willebrand panel, right? And then you’re going to get all the tests and the pathologist takes a look at it and gives you an interpretation – which is kind of nice – and then we send them to you.
Dr. Sarah O'Brien: Correct. Right.
Dr. Mike Patrick: OK. So, let’s say now you’ve done the test. Your child does have Von Willebrand Disease, what’s next? What do you do?
Dr. Sarah O'Brien: So if we diagnose somebody with Von Willebrand Disease, the next thing we do is bring them back to clinic for what we call a DDAVP challenge. And DDAVP is a hormone and it’s a medication that can be given either as a nasal spray or via intravenous, if you need to. And what it does is, it stimulates your clotting factors for about 24 hours.
So, it’s a really great medication because it’s not something you need to take everyday or should be taken everyday. But, for example, for our patients with nosebleeds, we use it when they’re having a significant nosebleed. We use it prior to procedure. We use it during heavy days of the menstrual period.
So that’s the very next step. And then, we just give the families a lot of education on activities that are OK and not OK. The good thing about mild bleeding disorders is that there are very few things that you can’t do as a patient with the mild bleeding disorder.
Dr. Mike Patrick: Right. And the good thing is with Von Willebrand, most of the people fall into that Type 1 or Type 2, which isn’t really too significant like hemophilia would be.
Let’s say, and again you only, you’re seeing a couple of these patients because it’s very rare. But that Type 3 patient, what are kind of precautions would they have to take and other treatment options for them?
Dr. Sarah O'Brien: So a patient with Type 3 disease, the difference between them and other Von Willebrand patients is that they can bleed spontaneously without any history of injury. So, they are more likely to have bleeding problems. They require a lot more care during surgical procedures, and they are limited from contact activities such as football, wrestling, like that.
Dr. Mike Patrick: Right. And head injuries would be very concerning with folks with the more significant, with Type 3.
Dr. Sarah O'Brien: Exactly. Although, we tell all of our patients with mild bleeding disorders that if they have a significant head injury, that they should receive medical attention.
Dr. Mike Patrick: Right away. What about non-steroidal anti-inflammatory drugs like Ibuprofen, aspirin – kids shouldn’t be taking aspirin anyway – but I mean, is that something that they should avoid? Or should they just stick with Tylenol?
Dr. Sarah O'Brien: Right. We recommend sticking with Tylenol. But we do it on a patient by patient basis. So if I have a patient who menstrual cramps are a significant problem for her and Ibuprofen is what works best, then we try it, just knowing that we’ll have to watch out and make sure that doesn’t worsen the bleeding. But in general, we ask them to stick to Tylenol.
Dr. Mike Patrick: I guess we should point out, too. The reason we’ve been talking about this is because the non-steroidal, anti-inflammatory drugs like Ibuprofen can prolong bleeding time too.
Dr. Sarah O'Brien: Exactly.
Dr. Mike Patrick: And then, I'm doing a little research. And I didn’t know this actually. Some of the anti-depressant drugs can lead to mild platelet dysfunction as well. So, Celexa, Lexapro, Prozac, Paxil, Zoloft and as we see more and more kids on those kind of medications, that becomes a little bit of a concern as well.
Dr. Sarah O'Brien: Right. So how that affects us is, often, we’ll see patients for easy bruising when they start taking those medications. And so that's just more of matter reassurance and with the medication doing its job, we can handle the easy bruising. We don’t ask our patients with mild bleeding disorders to avoid those medications but it can affect our testing.
So, it’s always important, even as a pediatrician before sending off these labs, making sure your patient is not on a medication like anti-depressants. Some of the anti-seizure medications affect our levels; antibiotics affect them. So you want to make sure you’re drawing them at a good time.
Dr. Mike Patrick: Yeah, when it’s just plain blood, no additives.
Dr. Sarah O'Brien: Right, exactly.
Dr. Mike Patrick: What about replacement therapy? So if someone had severe Von Willebrand, is that something you could give them – blood product – in an emergency situation? Like they were in a car accident or something and you were worried about significant bleeding? Is that something that’s a possibility?
Dr. Sarah O'Brien: Yes, just like for our patients with hemophilia, the severe bleeding disorder, there’s also a Von Willebrand factor that you can give. For our mild bleeding patients, we might give that during an especially significant surgery or if DDAVP can affect your fluid balance. And so, if it’s going to be a situation where they going to be getting a lot of IV fluids, we might use… Humate-P is the name of the Von Willebrand factor we use.
Dr. Mike Patrick: And is that a blood product?
Dr. Sarah O'Brien: Yes, it’s a combination of a thousand of your closest blood donor friends all put into one product.
Dr. Mike Patrick: Got you. So are there other concerns that you could get blood-borne illnesses through that as well?
Dr. Sarah O'Brien: The same as the any regular blood products.
Dr. Mike Patrick: Just like any blood. Got you.
Dr. Sarah O'Brien: The chances at this point are extraordinary low because everything so carefully screened.
Dr. Mike Patrick: Great. All right. And we kind of talked about complications with Von Willebrand Disease, so we’ll kind of skip over that. What is the long-term prognosis of this disease? So if you have it, what kind of, from a life-long standpoint, what’s expected?
Dr. Sarah O'Brien: It doesn’t affect your life expectancy at all. When I diagnose a patient with Von Willebrand Disease, I always try to frame it as 'knowledge is power'. Now we know that you have this mild bleeding disorder, we know the kind of anticipate when you might have a problem, when you’re getting your wisdom teeth pulled, if you’re having a different type of surgery. We know to manage things differently. But it’s not a disease that should affect your day to day life.
Dr. Mike Patrick: Great. Is there anyway to prevent it?
Dr. Sarah O'Brien: There’s not a way to prevent it. It’s either inherited through the family. Or another thing we see quite commonly that I wanted to point out is that patients with Type O blood have lower levels of Von Willebrand factor than everybody else. We see that very commonly, where somebody will have mildly low levels. And we don’t really think it’s Von Willebrand Disease that’s passing through the family, but just that they have Type O blood.
Dr. Mike Patrick: And that’s passing through the family.
Dr. Sarah O'Brien: Exactly. And if those patients are having problems, we still go ahead and treat them with DDAVP and the Von Willebrand medications.
Dr. Mike Patrick: What about curing Von Willebrand Disease? Now in the milder forms, that may not be something that you'd even think about, because risk versus benefit of a cure here.
Dr. Sarah O'Brien: Exactly.
Dr. Mike Patrick: But someone who have Type 3 and you're worried about significant problems associated with it, is there any way that you could cure it?
Dr. Sarah O'Brien: There's not right now. Just as there is with hemophilia, there’s research into gene therapy for things like the severe Von Willebrand Disease but we’re very far away from it.
Dr. Mike Patrick: So that you could, in the future, maybe inject genetic code to make the proper protein and the proper amounts and that sort of thing. What about bone marrow transplant or liver transplant? Are those kind of things ever considered?
Dr. Sarah O'Brien: No. Just because it's a mild disease.
Dr. Mike Patrick: Right. All right, so I think we’re good. Anything else on Von Willebrand Disease that we didn’t talk about that you think we should address? I think we covered it all pretty well.
Dr. Sarah O'Brien: I think we did.
Dr. Mike Patrick: We do have an information page that you can link to. We’ll actually put it on the Show Notes over at pediacast.org. We have a Von Willebrand Disease information page at Nationwide Children’s, on the website. So we’ll put a link to that.
Now, every guest who comes to the PediaCast Studio, we always ask, what is your favorite board game?
Dr. Sarah O'Brien: My favorite board – Clue.
Dr. Mike Patrick: Clue? You like Clue. Just the traditional Clue?
Dr. Sarah O'Brien: Yes.
Dr. Mike Patrick: Because, you know, now there’s different one.
Dr. Sarah O'Brien: The old school Clue.
Dr. Mike Patrick: Old school Clue. Cool. Yeah, that’s the one of our family favorites. Although we do like – so we had lived in Orlando, Florida and we’re kind of Disney buffs. And so we have the Haunted Mansion version, which is actually pretty cool, and Tower Terror. They actually have a Clue also, so anyway.
Dr. Sarah O'Brien: The movie is good, too.
Dr. Mike Patrick: Yeah, yeah, absolutely. Heck, we just watched that not too long ago. And it had the alternate endings.
Dr. Sarah O'Brien: Right.
Dr. Mike Patrick: When it was out of the movie theaters, you'll have to try to catch it at a couple of different theaters to get the alternate endings. All right. Well, thank you very much for stopping by the studio today. We really appreciate it.
Dr. Sarah O'Brien: Thanks for having me.
Dr. Mike Patrick: And we’ll have to have you come back and talk about hemophilia.
Dr. Sarah O'Brien: Sure.
Dr. Mike Patrick: All right. So, thanks to Dr. Sarah O’Brien for stopping by. And, of course, thanks to all of you for taking time out of your day to listen to PediaCast.
Remember, if there’s a topic you’d like us to address, it’s easy to get a hold of us. Just go to pediacast.org and click on the Contact link. You can also email firstname.lastname@example.org. Or again, call the voice line at 347-404-KIDS. That’s 347-404-K-I-D-S.
And until next time, this is Dr. Mike saying stay safe, stay healthy and stay involved with your kids. So long, everyone!
Announcer 1: This program is a production of Nationwide Children’s. Thanks for listening. We’ll see you next time on PediaCast.