Advances in hemophilia treatment are making damaging bleeds a rare event
Treatments for hemophilia, a rare genetic condition that affects blood clotting, have advanced so much in the last 10 years that some young patients with the disease don’t even know what it’s like to have a bleeding event. Because of their success, researchers have even started shifting their focus to finding solutions for other bleeding and clotting disorders.
Typically, proteins and platelets in the blood form clots after an injury to stop excessive bleeding. Hemophilia occurs when a person doesn’t have enough of one of the proteins needed for blood to clot. A cut or wound would bleed longer than it would for someone without hemophilia. Internal bleeding, particularly in the joints, is also a concern for people with hemophilia. In previous decades, young adults with hemophilia had severely damaged knees, ankles, and elbows – if they even lived that long.
10 years ago, it was common for people with hemophilia to have one or two bleeding events per month, said Mark Reding, MD, a hematologist at M Health Fairview, director of the M Health Fairview Center for Bleeding and Clotting Disorders, and a professor with the University of Minnesota Medical School. Now he’s seeing patients who haven’t had a bleeding event in four or five years.
“Starting in 2014, we had the first of the new treatments. At the time, I would have told you that they were so much better for our patients than the treatments we used for the previous 30 or so years,” Reding said. “I look back at those now and think they aren't all that impressive compared to what we have now.”
The advances continue to come. Several new drugs are now available with a few more in clinical trials, “and they’re not just slightly better versions of the previous ones,” Reding said. “They’re significant advancements.”
Patients used to get intravenous infusions two or three times a week – every week for their entire lives. Now, some are able to give themselves a subcutaneous injection, like how someone with diabetes might give themselves an insulin injection. Gene therapy is now also available. Copies of the missing gene are injected into a patient’s body, which helps the body make more of the protein it needs to stop the bleeding.
Hemophilia research advanced treatment for other conditions as well.
About 33,000 people in the United States live with hemophilia. It’s a rare disease that mostly affects males. It has gotten a lot of research attention in part because it can be used as a model for treating more complex conditions. Hemophilia is caused by a defect in a single gene that causes a single missing protein.
“If you fix that one thing, you fix the disease,” Reding explained.
People with hemophilia give themselves injections of clotting factor concentrates that give them the protein they’re missing. They don’t even need to bring their protein levels up as high as someone without hemophilia. Even a little bit of the protein can dramatically improve blood’s ability to clot.
“Years ago, we thought if we can figure out the basic mechanisms of how to get this treatment to work for hemophilia, then we can apply it to other diseases that are much more common, like sickle cell disease,” Reding said.
That day has come.
Because progress for hemophilia has been so positive, the Center for Bleeding and Clotting Disorders has expanded its focus beyond hemophilia. Some of the new treatments that work for people with hemophilia may also work for people with other clotting factor deficiencies and some congenital platelet disorders that currently have more limited treatment options.
Research has also expanded in the last decade. While the center previously only researched hemophilia, they now have open clinical trials for other rare bleeding and clotting disorders.
People with hemophilia are living long enough to have age-related health concerns.
The advances in hemophilia care have created a new challenge: Patients are living long enough that they’re starting to deal with age-related health conditions like heart disease and cancer.
“The management of that is quite complicated because normally we use blood thinners and antiplatelet medications to reduce the risk and prevent further cardiovascular events, but using medicines like that with bleeding disorders is very tricky,” Reding said.
But the new hemophilia treatments are allowing patients to take some blood-thinning medications if needed. Reding expects that treating age-related conditions will be a greater area of focus in upcoming years.
"When I started out 30 years ago, my patients were dying of AIDS,” Reding said. “Then we went through a stretch where many of them were dying of liver disease from viral hepatitis. We don’t have to deal with those things anymore because we fixed them. I never thought in my career that we’d be dealing with aging and cardiovascular diseases.”
M Health Fairview Center for Bleeding and Clotting Disorders is uniquely positioned.
Patients who receive care at the Center for Bleeding and Clotting Disorders get multidisciplinary care from physicians, physician assistants, nurses, social workers, genetic counselors, physical therapists, and pharmacists all in one place. They also have access to clinical trials. That means we can offer leading-edge treatments.
“One of the goals of our center is to provide care that people can’t get elsewhere,” Reding said. “Our patients have access to clinical trials that may not be offered through other health systems. By participating in these trials, they also can help others. For example, our patients have participated in gene therapy trials and because of that, these therapies are now commercially available.”
The program is also unique in that it only serves adult patients, so we can focus on the increase in age-related health conditions that people with hemophilia are now experiencing.
