Do You Have Hemophilia and an Inhibitor?
Learn about hemophilia and inhibitors and where you can find more information and support.
Hemophilia and Inhibitors
People with hemophilia lack a protein (a clotting factor) necessary for blood to clot normally. This can lead to spontaneous bleeding as well as bleeding following injuries or surgery. The best way to treat hemophilia is to replace the missing blood clotting factor so that the blood can clot properly. This is done by infusing (giving through a needle into a vein) commercially prepared factor. However, up to 1 in 5 people with hemophilia develop an antibody (inhibitor) to the infused factor used to treat bleeding episodes. The inhibitor prevents the factor from working to stop bleeding. An inhibitor makes treatment for bleeding episodes much more difficult and expensive. Treatment costs associated with inhibitors are on average 3 – 4 times higher and can cost a patient over $1 million in a single year. In addition, people with inhibitors are at increased risk for joint disease and other complications from bleeding that lead to a reduced quality of life.
Living with Hemophilia and the Added Challenge of an Inhibitor – One Family's Struggle
Few people know the challenges of living with hemophilia and an inhibitor better than Sonji Wilkes and her family of five from Englewood, Colorado. On August 7th, 2003, Sonji and her husband Nathan welcomed their son Thomas into the world. Thomas, who has severe Hemophilia A, developed an inhibitor when he was 8 months old, soon after beginning treatment for his hemophilia. He suffered his first joint bleed at age 2 and was temporarily confined to a wheelchair following a bleed into his ankle joint in October 2006 that took over two months to resolve.
According to Sonji, bleeding management of a patient with an inhibitor is a real challenge. Currently there are only two products to choose from to control bleeding, and only one product approved for prophylaxis (preventative treatment). "Every time a bleed happens, I hold my breath to see if Thomas's body is going to respond to treatment – and I never know if it's going to take one treatment or a week of multiple infusions daily to stop a bleed. It's scary. I worry that my child might literally lose life or limb and I only have a limited range of medical interventions to help him."
Venous access (finding a vein in which to infuse the factor) is another huge challenge confronting the Wilkes family because Thomas receives infusions of factor daily. When Thomas bleeds and needs multiple infusions per day, the need for access is even more critical. A venous access device—a long, thin tube called a catheter, which is inserted into a vein—allows a physician to deliver medicine directly into the bloodstream without repeatedly puncturing the blood vessels.
According to Sonji, Thomas's veins are hard to stick on a regular basis and he has so far had multiple PICC lines (aperipherally inserted central catheter line, which is inserted into a vein in the arm and goes up the vein all the way to a large blood vessel in the chest), as well as five ports (devices that are surgically placed under the skin of the chest and connected directly into a large vein in the upper chest for infusions).
"It is uncertain if he will require another port, or even if his body will hold up to another insertion, not to mention the bleeding and infection risks involved with the surgical placement. It is terrifying to have the very medication that can save his life in your hands, but not know if you'll be able to administer it because of access issues."
Other challenges of living with an inhibitor that Thomas and his family have faced include management of short- and long-term pain from repeat joint bleeds, dependence on and side effects from pain medications, inability to participate fully in sports and activities due to physical limitations, many school absences, and concerns over the costs of medications.
"There's worry over the affordability of the drugs available to him. There's worry over access to his medical team and if my insurance will allow me to utilize their expertise. There's worry over his mental and emotional condition. There's enough worry to fill an ocean."
Despite all of these challenges, the Wilkes family maintains a positive spirit and a focus on the gratifying aspects from their struggles with hemophilia and an inhibitor. For example, they have made life-long friendships in the hemophilia community, had the opportunity to travel and see friends at hemophilia meetings, vacationed in Hawaii thanks to the Make-A-Wish® Foundation, and even met President Obama.
National Hemophilia Foundation's Inhibitor Education Summits
Twice a year, the National Hemophilia Foundation (NHF) offers weekend-long Inhibitor Education Summits for patients, caregivers, and staff members from hemophilia treatment centers and NHF chapter organizations. The summits allow attendees to learn from each other's experiences and from experts. There are different educational tracks. Past topics have addressed: new drugs in development, tips for parents, sports and exercise, immune tolerance therapy, and needs of older adults with hemophilia and an inhibitor. New this year is a series of webinars designed to enhance and expand upon the education provided at NHF's annual Inhibitor Education Summits.
Hemophilia Federation of America's 2015 Annual Symposium
Since 2014, the Hemophilia Federation of America (HFA) has offered a half day educational track at their annual symposium for patients and families who have been dealing with a long-term inhibitor. Past topics have included: immunology and the role that the immune system may play in inhibitor development and treatment, why inhibitors may resurface after toleration, why some inhibitors are harder to treat than others, physical therapy solutions for patients with an inhibitor, and current inhibitor research.
Inhibitors and CDC's Role
CDC supports research to better understand complications that may result from hemophilia, such as inhibitors and long-term, crippling joint disease. In the Inhibitor Study, researchers are looking at why some people develop inhibitors. CDC hopes that a better understanding of the causes of inhibitors will help us learn how to prevent them. That knowledge could result in decreased healthcare costs and safer, more effective treatment products for people with hemophilia.