Factor V Leiden – PediaCast 175
- Factor V Leiden
- Dr Bryce KerlinHematologist
Nationwide Children’s Hospital
- Hemostasis and Thrombosis Center at Nationwide Children’s
- Multimedia Presentation of the Coagulation Cascade (Johns Hopkins)
Announcer: This is PediaCast.
Announcer: 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. It is Episode 175 for August 18th, 2011. We’re calling this one Factor V Leiden, which is probably a grouping of words you’ve never heard before, but we’re going to discuss exactly what this is. And to help me do that in the studio today, I’m joined by Dr. Bryce Kerlin. He’s a hematologist at Nationwide Children’s, so he’ll be here in just a moment.
I do want to remind you if there is a topic that you’d like to hear about or you have a question for us, it’s easy to get hold of me.
Just go to pediacast.org and you can click on the Contact link. You can also email email@example.com and of course, the voice line is always available for you as well at 347-404-KIDS, that’s 347-404-5437.
All right. So I am joined in the studio today by Dr. Bryce Kerlin. Dr. Kerlin is an Associate Professor of Pediatrics at the Ohio State University, College of Medicine, and he’s the Director of the Hemostasis and Thrombosis Center at Nationwide Children’s.
As a physician with the Division of Hematology and Oncology, Dr. Kerlin takes care of children with bleeding and clotting problems and he is a principal investigator for several studies looking at hemophilia and other bleeding disorders.
So welcome to PediaCast, Dr. Kerlin.
Dr. Bryce Kerlin: Thanks, Mike. Nice to see you.
Dr. Mike Patrick: I appreciate your coming. And before we get started, I have to let everyone know you are quite the traveler.
Dr. Mike Patrick: You started out — Indiana is your home state, right?
Dr. Bryce Kerlin: Correct.
Dr. Mike Patrick: You heard about the stage that collapsed at the Indiana State Fair.
Dr. Bryce Kerlin: I did hear about them recently.
Dr. Mike Patrick: And, of course, people had their cell phones out so they were able to catch it actually in the act of falling. Pretty scary stuff. And it wasn’t like it was even tornado. It was a 60-mile-an-hour winds. So it sounds like there’ll be some lawsuits over that.
Dr. Bryce Kerlin: I’ll not comment.
Dr. Mike Patrick: Yeah, right, right, right. Not that we have expert — you know, we won’t be called as an expert witness on that. That’s for sure.
Dr. Bryce Kerlin: I don’t think so.
Dr. Mike Patrick: So you’re from Indiana and then you went to medical school in Wisconsin, did your residency in Phoenix and your hem/onc fellowship back in Wisconsin, and then here from there?
Dr. Bryce Kerlin: Practiced for a couple of years in San Diego —
Dr. Mike Patrick: Two’s.
Dr. Bryce Kerlin: — at Rady Children’s Hospital and then —
Dr. Mike Patrick: Just add one more location to the map.
Dr. Bryce Kerlin: Yeah. Right.
Dr. Mike Patrick: So of all those places, what’s your favorite?
Dr. Bryce Kerlin: Oh, well, here of course.
Dr. Mike Patrick: No, you don’t have to say that, really.
Dr. Mike Patrick: Just —
Dr. Bryce Kerlin: Actually, I would prefer to be on a lake in the wilderness of Ontario fishing.
Dr. Mike Patrick: Oh, very nice. Yes, yeah.
Dr. Mike Patrick: Only during certain fun times of the year there, right?
Dr. Bryce Kerlin: Yes.
Dr. Mike Patrick: Are you an all weather —
Dr. Bryce Kerlin: Summertime.
Dr. Mike Patrick: Yeah, absolutely. Did you do some fishing when you’re out in San Diego or you’re not so much the —
Dr. Bryce Kerlin: That’s where I learned to sail.
Dr. Mike Patrick: Now, we’ve gone — oh, sailing. Do you do that here?
Dr. Bryce Kerlin: Yeah. I own a little hobie catamaran —
Dr. Mike Patrick: Yeah, oh, great.
Dr. Bryce Kerlin: — that I sail on our own creek reservoir, which is a lot of fun actually.
Dr. Mike Patrick: Yeah. I’ve actually never gone, but I’ve heard it’s difficult.
Dr. Bryce Kerlin: Maybe I’ll remedy that for you.
Dr. Mike Patrick: Yeah, that will be fun. We should do that some time.
Dr. Mike Patrick: Just make sure no one is around with the camera.
Dr. Mike Patrick: Actually, Ontario fishing is fun. We actually need to start doing this again because once we moved to Florida is when we sort of stopped it. But my father-in-law and brother-in-law will go up to Lake Ontario and go salmon fishing once a year out of St. Catharine’s in Port Dalhousie, I think it is. But anyway, that was always a fun trip and we’d go once a year and bring back salmon.
Dr. Bryce Kerlin: I like to go way northwest in Ontario and go canoeing on some of the smaller lakes in the back country and fish for walleye in Northern Pike and muskie.
Dr. Mike Patrick: That must be beautiful.
Dr. Bryce Kerlin: That’s what I do, so.
Dr. Mike Patrick: Now, do you camp out then when you do that? I mean, do you —
Dr. Bryce Kerlin: Oh, yeah.
Dr. Mike Patrick: The whole nine yards?
Dr. Bryce Kerlin: I’m very outdoor-sy. I’m actually a scout master for one of the large local troops and we do all kinds of crazy outdoor stuff.
Dr. Mike Patrick: Oh, that sounds like fun.
Dr. Bryce Kerlin: It’s been a lot of time way far away from anywhere with no salt hammers.
Dr. Mike Patrick: Yeah.
Dr. Mike Patrick: Does that drive you crazy or is it that’s great?
Dr. Bryce Kerlin: No, that’s my pop off of…
Dr. Mike Patrick: Yeah, got you. All right. Well, we could talk about that — we could talk about those things for a very long time.
Dr. Bryce Kerlin: Yes, we could.
Dr. Mike Patrick: But we’re actually supposed to keep the discussion to our topic. Sometimes I get in trouble for that. We talked a few weeks ago with Dr. Sarah O’Brien, one of your colleagues in the Department of Hematology on von Willebrand disease, which results in easy bleeding and difficulty clotting. And we discussed at that point, and I’m sure a lot of listeners out there remember just how complicated the coagulation or clotting cascade is with lots of steps where things can go wrong.
And today we’re going to talk about the different step that can go awry, and this time the defect results in the opposite problem. Instead of easy bleeding, we get easy clotting. Now, before we talk about Factor V Leiden in detail, we had a listener who asked a question about it.
Karen in Johnson City, New York said, “Hello, I just listened to my first PediaCast today and I’m hooked. I have a 3 1/2, 4 1/2, and 13-year-old. My question for you is about testing my child for Factor V Leiden. I had a blood clot in my leg when I was pregnant with my youngest child and since that time, discovered through genetic testing, I have
Factor V Leiden, the type that only affects one chromosome. I take Coumadin and have to continue taking that for the rest of my life. Shall I be proactive and get my kids tested for this disorder or shall I wait and do it if they ever need elective surgery? Thanks for such a great informative podcast. Karen.”
So thanks for the question, Karen. Before we answer it, Dr. Kerlin, if you could just sort of define for our listeners what exactly is Factor V Leiden?
Dr. Bryce Kerlin: OK. Well, that’s a pretty complicated question. So as you alluded to, blood clotting is a very, very, very complex process. So the way I like to explain it is if you think about it, your blood needs to pump around all over your body and flow so that you can deliver oxygen and nutrients and take away waste byproducts and whatnot.
And that means that 99.9% of the time you want your blood to be a fluid because you can’t pump a solid.
Dr. Mike Patrick: Right.
Dr. Bryce Kerlin: But when you cut your finger in the kitchen or you’re otherwise injured, you want your blood to very quickly turn into a solid but only at that site where your injury is because if it continues uncontrolled to turn into a solid, you end up with concrete in your blood vessels and your heart cannot pump the solid.
Dr. Mike Patrick: Not a good thing.
Dr. Bryce Kerlin: And then at the end of that, so you want it controlled, turn it into a solid, and then after the injury heals, you want to turn it back into a liquid. So if you start thinking about the complexity of taking a liquid, turning it into a solid in a controlled way, and then turning it back into a liquid again, you can imagine that the biological mechanisms surrounding that process are quite complex.
And so, this is where the Factor V Leiden piece comes in, is Factor V, all of the blood clotting proteins have these weird names like von Willebrand’s disease but most of the classical ones were called factors because people didn’t really know what they were in the early days of coagulation science. They were later discovered to be proteins and enzymes but they were labeled factors and then they were numbered with Roman Numerals in the order in which they were discovered.
So Factor V is one of the proteins that helps your blood to clot; the part of turning it from a liquid into a solid. But it’s also one of the critical points where the system can turn it back off. So there’s another enzyme called Protein C that when activated, one of its jobs is to go turn Factor V off. And it does that by sort of being like a Pacman and chopping the Factor V in two.
Factor V Leiden is a point mutation in the Factor V gene that causes the Factor V to be resistant to that cleavage by activated Protein C. So that what it means is that once the Factor V is turned on, it’s very, very hard to turn it off. The end result of that is that once you start the clotting process, if you have Factor V Leiden, you’re going to make a bit more clot than the normal person would.
So if you have that injury and you want to just that focal solid blood to clot to heal the injury, you’re going to get a bit more than that. And if that goes on uncontrolled, then you end up with something that we call a thrombosis.
Dr. Mike Patrick: So this is — it’s really sort of a check and balance system. The Protein C is going to stop the clotting. I mean, that’s its job, is to stop it. Now, I had to look this up because I had no clue. I had not really heard a lot about Factor V Leiden before I got this question not being a hematologist.
And I discovered it was named after the City of Leiden in the Netherlands and it was first identified by Dr. Bertina in 1994. So this is really pretty recent that you probably didn’t learn about this in medical school.
Dr. Bryce Kerlin: I’m not that old.
Dr. Bryce Kerlin: It was just coming into vogue. I was in medical school and it turns out that when it was discovered, it was thought to be to explain most of abnormal blood clotting. And more science, another decade and a half of research is showing us that actually, it’s a fairly weak risk factor and that generally just having Factor V Leiden in and of itself does not cause you to have disease.
It turns out that the kind of clotting that we’re talking about that causes disease which we call thromboembolism or venous thromboembolism or DVT for Deep Venous Thrombosis or PE for Pulmonary Embolism.
Most of those are multi-factorial in origin. So in other words, you might — having a Factor V Leiden might make you a little bit more likely to do it, but you also need to be sick in some way, shape or form. And the combination of those events is what causes you to thrombose.
Dr. Mike Patrick: How common is this problem? I mean, both in terms of how many people have Factor V Leiden, that variant of Factor V, and then how many actually are going to have issues with it?
Dr. Bryce Kerlin: Well, that’s a really interesting question because it turns out that in addition to being discovered fairly recently, so we don’t know as much about it as we could because we haven’t had much time to learn, is that it looks like — that it’s a fairly new mutation in the human population.
So studies have shown that the mutation probably originated from a single founder who live in Scandinavia approximately 20,000 years ago.
Dr. Mike Patrick: OK, relatively new.
Dr. Bryce Kerlin: Which is — that’s new for a mutation in the DNA, in the human chromosome.
Dr. Mike Patrick: Sure.
Dr. Bryce Kerlin: In the human genome, that’s the word I was looking for. And so, it’s fairly new, but what’s interesting about it is that nearly 5% of the Caucasian population carries at least one copy of this mutation. And you wouldn’t think if you study genomic medicine, that some mutation that that’s new would be that common already.
And it turns out that investigators including myself and others have discovered that perhaps, it exerts positive survival pressure in a number of different ways. Some investigators have shown that it decreases peripartum or around delivery bleeding so that a woman with this mutation is more likely to survive childbirth and go on to have more children.
There’s evidence from my mentor’s lab that I worked in that I helped generate the data for showing that people with Factor V Leiden are more resistant to septic shock and more likely to — I’m sorry, less likely to die from a serious infection. So there are ways that Factor V Leiden may actually be helpful to an individual. Dr. Mike Patrick: Right. Which helped it to be passed along.
Dr. Bryce Kerlin: Right. And that’s one of the reasons that we think it’s as common as it is.
Dr. Mike Patrick: Sure. Now, their being at least a genetic component to it, we talked about recessive and dominant and if you inherit one gene it might not actually show itself up, but if you inherit two copies of something, then you’re more likely to have the disease. Is that same sort of thing happen with Factor V Leiden?
Dr. Bryce Kerlin: Right. We’re talking about an autosomal dominant mutation or co-dominant mutation. So it’s a dose-dependent effect.
So having one copy increases your relative risk of having a clinically significant blood clot by about five fold and having two copies increases your relative risk of having a significant blood clot by around 60 fold.
Dr. Mike Patrick: So it’s much worse to have two copies of the Factor V Leiden gene, so to speak.
Dr. Bryce Kerlin: Correct, but we need to put that into perspective, OK? So I have to correct myself because I said five fold when I meant 10 fold for one copy. So 10 fold sounds like a whole bunch. That’s 10 times the risk, but the way I like to explain it to families that visit me in my clinic is that what is your risk to start with. So if you’re a healthy child, your lifetime risk of having a blood clot is about 1 in 100,000. Ten fold 1 in 100,000 is 1 in 10,000.
Dr. Mike Patrick: So it’s still pretty low risk even if you have the one.
Dr. Bryce Kerlin: Right. So if you’re a healthy individual, just having a copy of this increases yours to about 1 in 10,000 through your lifetime, which means there still a 9,999 chance that you’re never going to have that clot. So if you give me 10,000 people that have one copy, only one of them is going to clot in their lifetime.
Dr. Mike Patrick: So there’s a lot of people out there who have this and will never know they have it and they’ll never have a problem with it.
Dr. Bryce Kerlin: That’s right.
Dr. Mike Patrick: And other factors go in to determining whether it actually shows itself up or not.
Dr. Bryce Kerlin: Right. So if they get sick so we do a lot of anticipatory guidance, actually, when we diagnose this or when we find out that it’s in the family. So we talk about that your genes you can’t change. You have a Factor V Leiden mutation. You inherited that from your mother or your father. You cannot change that. There’s no cure.
On the flip side of the coin, there are lots of things about your lifestyle what we call modifiable risk factors that you can change to either enhance or decrease your risk of having a significant blood clot.
So for instance, blood that sits still prefers to clot, so we want to keep it flowing. So the ways that we keep it flowing is really good hydration, regular exercise, and we don’t like long sedentary periods. Everybody’s heard about the person who sits in a car for a really long time or takes that international flight and then has a big blood clot at the end, this is not an uncommon story in the news.
So we recommend people who have clotting in their family or who have been diagnosed with a risk factor for clotting that they don’t sit for long periods of time. That they get up and ambulate or walk at least once every hour.
Dr. Mike Patrick: Let’s talk a little bit about the symptoms of — so if you did have a significant clot, what are the most common places where this would happen and then what kind of symptoms would that lead to?
Dr. Bryce Kerlin: Right. For an adult, the most common place to have a blood clot is in your leg. For children, most blood clots occur in kids who have some sort of chronic underlying disease, whether it’s heart disease, cancer, a GI disease like Crohn’s disease, ulcerative colitis, some of those kinds of problems, there’s a whole list. But most kids who are healthy don’t have clots. The kids who are most likely to have clots are those who have a chronic disease, being cared for by subspecialist, that kind of severity.
And the majority of them have a special IV catheter called a central venous access device that is used for long-term IV access. And those kids, they are typically put in the veins that drain the upper extremities in children.
And those are another risk factor for clotting because they’re sort of in there teasing the blood and entering the side of the vessel. And so, in kids, it’s much more common for them to have blood clots in their arms.
As far as the symptoms you would see in a child, since this is PediaCast, is he might have troubles making that catheter or the IV catheter work. It may not want to infuse the drug or you might not be able to draw blood from it. Other symptoms would be sort of a purplish discoloration to the arm or the leg from blood getting trapped there that can’t escape back because of the clot. The extremities is usually warm and painful and swollen in addition to being discolored.
Dr. Mike Patrick: So we’re talking clots in veins —
Dr. Bryce Kerlin: Correct.
Dr. Mike Patrick: — and most commonly in extremities that you would see this. Is it possible to have pulmonary embolism or clot in the lung or is that more — you typically see that more in an adult patient?
Dr. Bryce Kerlin: Actually, we see that quite not infrequently. So what happens in a pulmonary embolism is that clot forms in the vein and a piece of it breaks off and floats downstream, which is toward the heart, goes through the right side of the heart and out into the lung where it gets trapped by the capillary system of the lung, we call that a pulmonary embolism. Relatively small pulmonary emboli are not uncommon and generally are not life threatening. The larger ones can be more problematic.
The goals of treatment for DVT, I’ll just go into that real quickly, is to put the child or the young adult on some sort of blood thinner similar to the Coumadin that our writer asked about. And that helps to stop the growth of the blood clot, which helps to prevent it from breaking off and embolizing which is the early major concern is that embolization can actually clog up blood flow in the lungs so that you can’t exchange oxygen adequately.
So we want to stop the growth of the clot and then allow the body’s natural system to start breaking the clot back down. We talked about earlier that, eventually, the body has mechanisms to make the clot go away and it will not allow that to happen. And so, the blood thinners, they prevent the acute complications and allow the system to start working on breaking the clot back down.
Long term, we’re concerned about recurrent clotting because once you have a clot in that vein, we worry about a second clot in that vein or elsewhere. And the clot itself can be quite damaging to the vein and cause chronic venous insufficiency where the vein doesn’t function properly, which leads to a prong called post-thrombotic syndrome where you’ve sort of got chronic swelling, discoloration and pain to that extremity that can interfere with your activities of daily living.
For your upper extremity might be that it hurts, if it’s in your dominant arm, say, you want to use that arm for all kinds of things from writing to eating to working with tools and whenever you start to exercise it and blood flow increases, the blood flow can’t return very well, you get more pain so you have to stop.
Dr. Mike Patrick: Yeah. And that really hampers your quality of life.
Dr. Bryce Kerlin: Right. The same thing with the leg. If you imagine it that way, that’s just walking. So this can be rather significant long term and we really want to limit those.
Dr. Mike Patrick: Other places where clots are bad, well, I know it really anywhere where you don’t want one, but in particular, in the brain, do you see that very often? Is that a possibility?
Dr. Bryce Kerlin: We didn’t see that in younger children and then again in adolescents. So there are big veins called the dural sinuses that drain the blood back from your brain and clotting in those is sometimes referred to as a venous stroke, although, they’re not really a stroke in a sense that most lay persons think of a stroke.
Dr. Mike Patrick: They decrease —
Dr. Bryce Kerlin: They think of it as a clot and an artery that obstructs blood flow to the brain, and so you get like a wedge shaped dying areas sort of like a heart attack. Venous infarcts are a little bit different because when it happens it causes congestion.
Dr. Mike Patrick: Because the blood can’t flow out.
Dr. Bryce Kerlin: Right. And so, then the brain tends to swell in that particular area and you get symptoms from that swelling. Sometimes it won’t be a bad enough congestion that the pressure builds up and there’s actually a bleed into the area.
Dr. Mike Patrick: And because this is more in the venous side, a clot in the heart blocking a coronary artery that wouldn’t be as big of a concern with this, is that something you see too?
Dr. Bryce Kerlin: With Factor V Leiden?
Dr. Mike Patrick: Yeah, yeah. That will be very unusual.
Dr. Bryce Kerlin: There are a lot of — I think the jury is still out on whether Factor V Leiden really increases your risk for heart disease or not. There’s not a lot of strong evidence that it’s a big arterial risk factor.
Dr. Mike Patrick: Now, so let’s say you have a kid who has or had one of these clotting, they’ve had a clot in one of these locations, is Factor V Leiden the only thing that can cause that or there are other things as well?
Dr. Bryce Kerlin: Actually, there’s a whole —
Dr. Mike Patrick: We all know what the answer to this is going to be.
Dr. Bryce Kerlin: As we said, clotting is complex, so there’s a whole host of things that we think about. Some of which we can do things about to treat and some of which we cannot similar to the Factor V Leiden where you have the mutation, you’re always going to have the mutation.
Dr. Mike Patrick: Right. So things like Protein C we talked about. So if you had a deficiency in that, that will be an example of something else.
Dr. Bryce Kerlin: Right. So we measure that there’s other proteins that turn off the clotting system as well; Protein S, antithrombin, and there’s another mutation that’s really interesting called Prothrombin 20210, which causes you to make too much of the pro-clotting enzyme called thrombin.
So there’s a host of things we look at and then we generally also look for acquired reasons to clot. So some people have an autoimmune response called antiphospholipid syndrome, which is an acquired phenomenon where the immune system is attacking its own coagulation system. And that dramatically increases the risk for blood clotting.
Dr. Mike Patrick: Now, this is going to be a little bit more of an advanced question, and we do have some clinicians and residents and nurses that listen to the program and some educated parents who are interested. So you have a kid with an abnormal clot, how do you figure out among all these different things that can go wrong, how do you narrow it down to this is Factor V Leiden and not something else?
Dr. Bryce Kerlin: Well, actually, that’s — whether or not there’s Factor V Leiden is a pretty straightforward question. So there’s a pretty quick and easy PCR-based test for Factor V Leiden. So if I order a Factor V Leiden on you, I’ll get that answer tomorrow.
Dr. Mike Patrick: Oh, OK. So it’s fairly easy. You ask, yes or no.
Dr. Bryce Kerlin: It’s a really easy, but what caused the clot in the first place is a little bit more complex of a question.
Dr. Mike Patrick: Let me ask you this, so the Factor V Leiden test that you’re talking about, does that look at the chromosomes to determine if they have the defect or does it look at blood clotting and adding Protein C to see if it makes a difference from other —
Dr. Bryce Kerlin: There are different kinds of tests and you’re alluding to that.
Dr. Mike Patrick: Yes. If you feel like it.
Bryce Kerlin: There’s an activated protein resistance assay, which was the original assay that they used to discover the problem back in the ‘90s, but there are a lot of false positives with that assay. So most tertiary care centers have moved towards the direct DNA testing.
Dr. Mike Patrick: So it really looks to see if you have that defect on the chromosome. And can it tell then if you have one copy or two copies on that too?
Dr. Bryce Kerlin: Yes. So we get the result back with positive or negative and if it’s one copy or two.
Dr. Mike Patrick: Sure. I’m sorry, for I interrupted you, bad host, bad host. You were talking that there may be other things so it’s easy to say Factor V Leiden yes or no to that, but there could be other things you need to look at as well.
Dr. Bryce Kerlin: Right. So my general school of thought being a thrombosis expert is that sorting out the reasons why you have a blood clot in the first place, how long you should be treated, how best to prevent another blood clot down the road, it requires a comprehensive medical evaluation from someone who is knowledgeable about thrombosis.
So like we talked about earlier, thrombosis really is a multi-factorial disease. So what are your underlying health conditions, what kind of medications are you on, do you have any anatomic malformations that might increase your risk, and then what is your sort of genetic and coagulation make up.
And all of that is going to be combined to individualize your therapy to say this is how aggressively you should be treated, for how long you should be treated, and how should we do that is it anti-coagulation alone, is it a mixture of trying to use some of the drugs that break up clots plus anti-coagulation, are there any sort of surgical interventions that we should do, should we do something to try to open the blood vessel back up with say, like a stent.
So there’s a lot of decision making that it needs to happen fairly rapidly once the clot is diagnosed. And it requires a comprehensive look at the patient. So that will be more complicated than just is it Factor V Leiden or not. The Factor V Leiden may be playing a role but probably is not the only thing.
Dr. Mike Patrick: But there’s lots of more things to think about as well.
Dr. Bryce Kerlin: Exactly.
Dr. Mike Patrick: And then you talked about in terms of treatment, Coumadin is a medication that sort of blocks clotting so that you have a longer bleeding time.
Obviously, you don’t want that to be too long so this is kind of even with treatment, it’s kind of a balance and you have to really be careful with that.
Dr. Bryce Kerlin: These patients are usually closely monitored with frequent blood test among their level of anti-coagulation and there are other drugs besides Coumadin that we use to thin people’s blood. And there are actually new ones coming down the pipeline. Two have been approved by the FDA in the last two years and there are several more in the pipeline. So our ability to manipulate the coagulation system is increasing currently.
Dr. Mike Patrick: Good. But it still has to — you have to be careful because bleeding too much then you have a whole another set of problems.
Dr. Bryce Kerlin: Well, that’s the major complication of blood thinner medication.
Dr. Mike Patrick: Is the treatment.
Dr. Bryce Kerlin: Coumadin, these other ones is bleeding and actually, that was my one comment to the writer is it sounds like she has what we call a provoked thrombosis.
So her thrombosis occurred around pregnancy and she has this relatively weak genetic risk factor be it she said she needs to take Coumadin for the rest of her life and I know we don’t generally make medical recommendations on this show but I would recommend that she get a second opinion.
Dr. Mike Patrick: Oh, got you. Yes.
Dr. Bryce Kerlin: Or maybe more behind that recommendation for life-long therapy. But from the information she provided, she may not really need that.
Dr. Mike Patrick: So people with Factor V Leiden don’t always automatically have to be on Coumadin, but if they’re going to be in a high-risk situation where they may be caught it in the past, then you would think about what happens.
Dr. Bryce Kerlin: Right. So that’s — again a personalized therapy discussion. So I think that that needs to happen.
Dr. Mike Patrick: Yeah. So, Karen, we’re not telling you to stop your Coumadin, we’re just saying talk to your doctor.
Dr. Bryce Kerlin: Right. Or maybe get a second opinion.
But she asked specifically about whether or not she should test her kids and this is a very, very frequent referral to our clinic, actually, is grandma, or mom, or dad, or somebody was diagnosed with this that or the other increase risk factor for clotting, do all of these children need to be tested.
Dr. Mike Patrick: Right. And the answer is?
Dr. Bryce Kerlin: The answer is maybe.
Dr. Mike Patrick: OK.
Dr. Bryce Kerlin: But usually not.
Dr. Mike Patrick: Uh-huh.
Dr. Bryce Kerlin: So like we talked about, if you are a healthy child, your risk for clotting is very, very low. And these things marginally increase that, but the risk at the end of that math is still very, very low. So for a healthy child who has a family history, I generally don’t recommend testing because we’re not going to do anything about it. We’re not going to place the child on blood thinner for a very, very low risk of blood clotting because the risk of bleeding from the treatment is higher than a risk that the child was going to clot.
Dr. Mike Patrick: So when you look at that risk versus benefit balance, the risk of treatment is greater than the benefit of treatment for those kids.
Dr. Bryce Kerlin: Correct. And then there’s another risk, which is — so the GINA Law, I don’t know if you’re familiar with this or not, the Genetic Information Nondiscrimination Act, protects you, if we discover that your child has Factor V Leiden, GINA, that law protects your child from discrimination for health insurance and for employment. But it does not protect your child from discrimination for life insurance or disability insurance. So that becomes a pre-existing condition. And some people have either been denied life insurance or downgraded like from their AAA rating down to a B or a C.
Dr. Mike Patrick: And we all know about that, right?
Dr. Bryce Kerlin: So their premiums skyrocketed, right?
Dr. Mike Patrick: Yes. Yes.
Dr. Bryce Kerlin: So there is a real risk of being identified with having one of these mutations.
So especially for younger kids who can’t quite understand that yet, I recommend that we wait until they’re old enough to understand it.
Dr. Mike Patrick: And especially when it’s something that is so common, yet, it doesn’t express itself very often.
Dr. Bryce Kerlin: Correct. But then for an adolescent, we may have a more comprehensive discussions, especially if it’s a young lady who’s thinking about starting birth control, progesterone containing birth control increases your risk for clotting. And so, sometimes it’s helpful to know which kind of birth control method am I going to choose based on my genetic background and my risk for clotting.
So the recommendation about whether or not to test is sort of I give them my thoughts about it and then we have a discussion and they need to think about it as well and then decide what they want to do.
Dr. Mike Patrick: Right. We talked about if you have one of the chromosomes or two, and if you have two that’s even more rare, the people would have that, but you have much more severe disease in that case.
Is there any work being done to look at gene therapy for people who would have two copies of it? Is that something that’s out there and they just not — there aren’t enough people affected to really move research in that direction?
Dr. Bryce Kerlin: There’s a very low number of people affected and when you do the math, the risk is still relatively low. So that —
Dr. Mike Patrick: Nothing to that exchange.
Dr. Bryce Kerlin: — the risk of gene therapy are high enough that I don’t think anybody has moved in that direction.
Dr. Mike Patrick: Got you. All right, we really appreciate you stopping by and talking about Factor V Leiden with us. I do want to mention in the show notes over at pediacast.org, we’re going to have a couple of links for you. I found a really cool multimedia presentation of the coagulation cascade from Johns Hopkins.
And it’s animated and it’s got different shapes for the different factors and basically, you can watch coagulation happens. So it’s a pretty cool animation and we’ll have a link to that in the — it’s got kind of a boring voice telling you what’s happening as it happens, but the animation is really cool. So you want to check that out.
And then we’ll also have a link to the Hemostasis and Thrombosis Center here at Nationwide Children’s, so people who are interested in learning more about the center or would like to have their child seen.
You talked about second opinions and we see people from outside the Central Ohio all the time here in Nationwide Children’s. So if you ever want a second opinion on your child’s hematological problem, we’re happy to see you and there’ll be a link again in the show notes to tell people how they can get in touch with your center.
Dr. Bryce Kerlin: Absolutely.
Dr. Mike Patrick: And one last thing, and the audience is all anticipating this because they all know about it. Every guests that we have in the studio, we’ve been kind of focusing on families doing things together that don’t involved screen times, so doing fun things together. And right now, we’re talking about board games, so I’ve just been asking everyone who comes in, what’s your favorite board game from when you were a kid or now or from all time. What do you think?
Dr. Bryce Kerlin: Oh, that has to be Monopoly.
Dr. Mike Patrick: You’re a Monopoly guy.
Dr. Bryce Kerlin: Yes.
Dr. Mike Patrick: It’s a long game.
Dr. Mike Patrick: It’s always my comment when people bring up Monopoly. And Dr. Kerani, an infectious disease doctor here, she had mentioned this sometimes she’ll just pass out the cards and start wheeling and dealing right away just to make the game go a little bit faster.
Dr. Bryce Kerlin: And there is a kids version of that game; Monopoly Jr.
Dr. Mike Patrick: Oh, sure.
Dr. Bryce Kerlin: I used to — my kids even though they were probably preschool age, we even had a — we said not screen time but there’s a computer version of the game.
Dr. Mike Patrick: Well, you know, sometimes you get to join.
Dr. Bryce Kerlin: My kids enjoy it, so.
Dr. Mike Patrick: Now, are you just classic Monopoly or do you get into the Star Wars Monopoly, the Beatles Monopoly or —
Dr. Bryce Kerlin: Straightforward, you know, with the little top hat guy.
Dr. Mike Patrick: Got you.
Dr. Bryce Kerlin: Yeah. Mr. Money.
Dr. Mike Patrick: The old school Monopoly.
Dr. Mike Patrick: Right. Well, once again thanks a lot for coming by. We really appreciate it.
Dr. Bryce Kerlin: Thanks, Mike. It’s been fun.
Dr. Mike Patrick: And I want to thank all of you for taking the time out of your schedule to listen to PediaCast. I want to also remind you that reviews in iTunes are most helpful and mentions in your blogs, Facebook, and tweets help as well. And be sure to tell your doctor the next time you’re in for a sick visit or well-check up about PediaCast so they can spread the news to more of their patients.
Also, I want to remind you if there is a topic you’d like to hear, it’s easy to get hold of us. Just go to pediacast.org, click on the Contact link, or you can email firstname.lastname@example.org or call the voice line at 347-404-KIDS, that’s 347-404-5437.
And until next time, this is Dr. Mike saying stay safe, stay healthy, and stay involved with your kids. So long everybody.
Announcer: This program is a production of Nationwide Children’s. Thanks for listening. We’ll see you next time on PediaCast.