Bleeding disorders such as hemophilia and von Willebrands disease can be extremely serious, but today are very treatable. However, many people who’ve had these disorders for some time fight the legacy of more primitive treatment, such as HIV and hepatitis C. Experts including a hemophilia patient explain.
Val Bias, CEO, National Hemophilia Foundation
Dr. Sanjay Ahuja, Associate Professor of Pediatrics, Case Western Reserve University School of Medicine and Director, Hemostasis and Thrombosis Center, Rainbow Babies and Children’s Hospital
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16-21 Bleeding Disorders
Reed Pence: Most people have heard of the rare bleeding disorder hemophilia, even though it affects only about 20,000 people in the United States. But while the condition is well known, myths abound as to just what hemophilia means for the person who has it.
Val Bias: People think of hemophilia that if you cut us that we’ll bleed out and that’s not the case. People with hemophilia bleed longer not more, so if you get a cut it will bleed longer and it will be harder to stop the bleeding, but you won’t bleed out from a cut, depending on of course the severity of the cut.
Pence: That’s Val Bias, who has hemophilia and is CEO of the National Hemophilia Foundation. He says 99 percent of all people with the disorder are male since it’s a sex-linked gene passed from mother to son through the X chromosome. Sometimes, females who carry the gene also have mild symptoms. Most people think of cuts as being most dangerous to people with the disorder, but it’s actually internal bleeding that hurts most.
Bias: Hemophilia will manifest itself in the person’s body mostly in joint bleeding. So elbows, knees, shoulders, hips, ankles – that’s generally where the bleeding will take place. Although if you are severe you can bleed anywhere, you’re just more likely to bleed into your joints than you are into your tissues. You will bruise anywhere though. A joint bleed can be as painful as breaking a bone, especially if you’ve bleeding into that joint before. It can be a real obstacle to everyday life and you learn, you know what a bleed feels like, what it looks like. So it makes you a little cautious after you’re had a few.
Pence: Bias says that every bleed into a joint has a crippling effect.
Bias: You’ll have less motion in that joint. It’ll get tighter as every bleeding episode tales place. And each time you bleed into that joint it’ll get a little worse; you’ll lose a little bit more movement, you’ll lose a little bit more ability to use it. So by the time you are an adult or late teens you could need a joint replacement. Now thankfully today the products are so good that we don’t see a lot of joint replacement in the population today. But somebody my age, and I have severe factor nine, I’ve glad one knee replacement, an ankle replacement, and a knee replacement scheduled for October of this year.
Dr. Sanjay Ahuja: What is remarkable is that it can be spontaneous. That means you don’t get hurt, you’re not injured, you’re not in a trauma situation, but you still landed up having bleeding into your joint. That is more common in the severe variety. So there are three forms of this — mild, moderate and severe – and the severe variety, the spontaneous bleeds, are more common than in the mild and moderate variety.
Pence: That’s Dr. Sanjay Ahuja, associate professor of pediatrics at the Case Western Reserve University School of Medicine and director of the Hemostasis and Thrombosis Center at Rainbow Babies and Children’s Hospital in Cleveland.
Ahuja: A person with hemophilia can have spontaneous bleeding into his joints, into his muscles, or any other internal organ. So, it is life threatening in that sense. If you have bleeding into an organ, such as brain, for example, which could be life threatening, so they can have spontaneous bleeding. The hallmark, though, is bleeding into joints.
Pence: He says if bleeding into joints occurs, it destroys cartilage until eventually sufferers have excruciating pain from bone rubbing against bone.
Ahuja: Fortunately, nowadays we don’t see that very often. In the olden days when there was no treatment we used to see this quite often. Nowadays we still see arthritis developing because you just need one episode, only one, one episode of bleeding into the joint for early forms of arthritis to start developing. So, really the crucial thing is to prevent that from happening altogether right from childhood. The best way to prevent arthritis from developing is for the joint to never bleed. We call this form of therapy prophylaxis — that means you are preventing any bleeds, for that matter happening. They are missing a vital protein so therapy would be to replace the missing protein. The replacement is called recombinant factor eight.
Pence: The FDA approved a new recombinant factor eight drug just this past March called Kovaltry. The drug can be used every other day in children to help reduce the frequency of bleeding episodes.
Ahuja: We’ve come a long way in the treatment of hemophilia. We have come from a position where we were treating bleeds or not at all, to a place where now we are not only preventing bleeds, but also ensuring quality of life that is as close to normal as possible. The life expectancy of somebody with hemophilia is pretty close to a normal life expectancy. Still not perfect, but it’s pretty close. They can do a majority of the things that a normal person can do as long as you are on the right therapy and you take it regularly. As I said, if you are missing the protein, the only way to make somebody’s clotting mechanism normal is to replace the missing protein.
Pence: But this and other modern treatments were not available when Bias was growing up… So he and others like him lived through a nightmare of clotting factor replacements through the years.
Bias: The bleeding disorders community has faced many complications over the years as it relates to the development of products to treat the bleeding disorder. So the first thing that we were treated with beyond whole blood was plasma-based products – fresh frozen plasma and cryoprecipitate.
Pence: Those treatments were derived from small pools of blood donors and infused into the patient. Bias says they helped a little bit, but not much.
Bias: The next iteration was fractionalized factor that was made from larger pools of plasma, primarily like pools of fifteen to twenty thousand people. So the early years of clotting factor, even in the plasma years, produced hepatitis b. That was a natural side effect of blood transfusions. People knew that, we found that out in WWII where the first blood transfusions were given to soldiers in the field and lots of them ended up with Hepatitis-B. For hemophilia that was a risk factor that was considered before you would give somebody plasma, but given that giving them nothing was going to potentially jeopardize their life, everybody got hepatitis b.
Pence: Then in the 1980s, the plasma pooling process exposed the hemophilia community to HIV. Ten thousand patients, including Bias, were infected.
Bias: And many of them died during that time period. That’s because the pooled plasma and the collection process lead to contaminated donations. And any one contaminated donation would infect the entire lot of clotting factor that was produced. So it was a very effective transmission device for people who used the clotting factor.
Pence: Tragically, Bias unknowingly passed HIV to his wife, Katie. She didn’t survive.
Bias: So I lost my wife to HIV in 1992. My first wife, Katie, contracted HIV from me and died. So that was profoundly sad for me, a very tragic situation, something that I had to live with, learn to live with, certainly blamed myself in her five years of deterioration until she finally passed away.
Pence: Then in the 1990s, many of these same patients discovered they’d been exposed to yet another disease — hepatitis c. That disease then became the largest killer of people with hemophilia. Fortunately today there are drugs that treat it.
Bias: Within the bleeding disorders community those of us who were infected were hard to treat because we were likely living with HIV and hepatitis c, but those drugs did prove to be useful. We had to fight to get access to them. In most cases we had to fight to get access to HIV drugs and then fight to get access to the hepatitis C drugs. But I’m happy to say that for many in our community who were seeing that they were going to survive HIV and probably die of hepatitis c, that those drugs have been a great success with 95 to 98 percent cure rates. I cleared my hepatitis c in November of 2014.
Pence: However, hemophilia isn’t the only inherited bleeding disorder that exists. Von Willebrands disease is actually much more common. It also causes bruising, some joint bleeding and affects male and female patients equally.
Bias: So people who bruise easily or bleed – nose bleeds and other things like that should probably have themselves checked. For women it can be very difficult — they have heavy menstrual cycles lasting two or more weeks. It can be a real challenge with pregnancy; it can be very debilitating. Part of that debilitation is that because hemophilia is known as a male disorder, doctors dismiss their bleeding as something that can be treated and they are told all the time that you just have a heavy menstrual cycle; you are just a bleeder. But they don’t associate it with something that can be treated. And there are treatments for Von Willebrands disease.
Pence: Bias says that men with Von Willebrands disease go largely undiagnosed, and that can be life threatening.
Bias: If they get themselves into an accident or surgery and they do have Von Willebrands disease and nobody knows it, it can have a negative effect on their outcomes, they can die from it. Von Willebrands disease is not easy to diagnose. We can treat you if we think you have a bleeding disorder, but trying to figure out exactly what kind of Von Willebrands disease that you have is very difficult. Government information about it says that it can take up to 16 years to isolate they type of Von Willebrands disease that you might have. There are essentially six types of Von Willebrands disease. At least one of them looks like mild hemophilia, so it can be very difficult to diagnose, which makes it very frustrating for the patient.
Pence: With a bleeding disorder that’s inflicted so many tragic losses and monumental challenges, you may wonder how Bias has managed to live a meaningful life. He says the death of his first wife Katie was a turning point.
Bias: That was a big change in my life in terms of my psyche and my commitment to doing something to impact the world, as we know it. I would have to say the biggest impact on my life has been battling chronic illnesses that were contracted during the treatment of my hemophilia, sort of altering my perspective on life and my ability to lead a normal sort of existence. But I’ve tried to make it a positive in my life and put my energy into serving other people, doing the work with the bleeding disorders community. I was camp director for kids with bleeding disorders for many many years, and certainly enjoyed that work as well. I’ve really tried to look at the glass as being half full.
Pence: You can learn more about both of our guests and about bleeding disorders by visiting our web site at radio health journal dot net.
Our writer this week is Polly Hansen. Our production director is Sean Waldron.
I’m Reed Pence.