Without treatment, people with hemophilia and other bleeding disorders are at risk for excessive bleeding after injuries or surgery, life-threatening brain bleeds, and progressive damage to organs and joints. Treatment for bleeding disorders can be extremely expensive and difficult to access. Worldwide, approximately 70 percent of people with bleeding disorders do not have access to treatment.
Many people with bleeding disorders in the United States are treated at hemophilia treatment centers (HTCs). The Centers for Disease Control and Prevention (CDC) funds the network of approximately 140 HTCs across the U.S. and its territories. Each HTC is staffed with hematologists (specialists in blood-related diseases), orthopedists (joint specialists), laboratory technicians, and nurses who specialize in treating people with bleeding disorders.
In people with bleeding disorders, a missing or dysfunctional clotting factor prevents the body from being able to form effective clots to stop bleeding. Replacement clotting factors are the most important treatment for many people with bleeding disorders. Other treatments can include hormones, vitamin K, and medications that promote coagulation.
Factor replacement therapies must be administered by intravenous infusion to be effective. Factor replacement therapies may be used in several different ways depending on the severity of the bleeding disorder.
Some factor replacement therapies are approved for all of the above uses, while others are only used for one or two of the three.
Recombinant products – clotting factors made in a laboratory using genetic engineering – are used by approximately 75 percent of those with hemophilia. Brands of recombinant factor include NovoSeven RT (factor VIIa), Advate and Kogenate FS (factor VIII), BeneFix (factor IX), and Tretten (factor XIIIa). Eloctate is a recombinant protein (Fc fusion protein) designed to treat hemophilia A and remain effective longer than traditional factor replacements.
Factor replacement concentrates are made from donated human plasma that has been screened for disease and heat-treated to destroy any potential infectious agent. Humate-P and Alphanate are used to treat hemophilia A and von Willebrand disease (VWD). Mononine and ProfilNine (factor IX) and Corifact (factor XIII) are examples of other factor replacement concentrates derived from human plasma.
There are fewer products available to treat rare bleeding disorders such as deficiencies in clotting factors I, II, and V, as well as those caused by deficiencies in multiple factors. Rare bleeding disorders may be treated with fresh frozen plasma or prothrombin complex concentrate, both of which contain a combination of clotting factors. Fresh frozen plasma is often needed in large quantities to be effective. Cryoprecipitate, or cryo – a product made from frozen blood plasma – may also be used, but unlike the other two multi-factor products mentioned, cryoprecipitate does not undergo treatment to inactivate viruses.
Desmopressin, a synthetic hormone sold under the brand names Stimate and DDAVP, is used to treat mild hemophilia A and mild to moderate van Willebrand disease. Desmopressin is available as a nasal spray. Desmopressin is believed to work by increasing the levels of von Willebrand factor and factor VIII in the blood.
Amicar (Aminocaproic acid) and Cyklokapron (Tranexamic acid) are antifibrinolytics — drugs that prevent bleeding by inhibiting the breakdown of blood clots. Amicar is taken orally, while Cyklokapron is injected intravenously. Antifibrinolytics are more commonly used to treat people with hemophilia B and women with excessive menstrual bleeding due to a bleeding disorder.
Hormonal contraceptives such as the birth control pill or intrauterine devices (IUDs) can help control excessive menstrual bleeding in some women with bleeding disorders.
In some people, bleeding disorders are related to vitamin K deficiency. Vitamin K may be taken orally or injected.
Exercise can strengthen your muscles, help protect your joints, and lower your risk for bleeds. Better fitness can help improve balance and cut down on accidents that may result in bleeding.
Joint pain, stiffness, and concern about bleeds lead many people with hemophilia to give up on exercise and become increasingly sedentary. However, muscle and joint weakness leads to more bleeds, and a sedentary lifestyle contributes to the development of other conditions such as osteoporosis and diabetes.
Some people with joint problems due to hemophilia can benefit from physical therapy. A physical therapist can teach you strategies to improve joint function and overcome physical challenges. Your physical therapist will teach you different exercises you can do on your own at home. Exercises may include stretching, strengthening, and conditioning movements.
A balanced, nutritious diet can help people with hemophilia maintain a healthy weight and lower their risk for chronic conditions such as diabetes, osteoporosis, and heart disease. Excess weight is especially problematic for people with bleeding disorders because it increases the demand on muscles and joints, raising the risk for bleeds.
Inhibitors are a serious complication of bleeding disorders. Inhibitors are antibodies — proteins made by the immune system — that attack and destroy replacement clotting factor, making the treatment far less effective. Between 15 percent and 30 percent of people with severe hemophilia A develop inhibitors. It is less common for people with hemophilia B to develop inhibitors — between 2 percent and 5 percent — but inhibitors are much harder to treat in those with hemophilia B.
Inhibitors may be low responding or high responding. Low responding inhibitors complicate the treatment of a bleeding disorder because much higher quantities of replacement factor are needed to prevent bleeds. In people with high responding inhibitors, even large quantities of replacement factor are not effective — the inhibitors neutralize the factor too quickly. In cases of high responding inhibitors, bleeds may be treated with prothrombin complex concentrate or an activated prothrombin complex concentrate such as Feiba, which contains a combination of clotting factors. Hemlibra (emicizumab-kxwh) is a biologic drug approved for use in people with hemophilia A and inhibitors. Hemlibra is believed to activate the coagulation process by connecting factors IXa and X.
Inhibitors themselves can be treated in some people via immune tolerance induction (ITI). ITI involves taking large daily doses of replacement factor to “train” the immune system to tolerate it. ITT take approximately one year to show results in most people, but it may also take two years or longer. Immune tolerance induction is not effective in all people. ITI is extremely expensive. People who undergo ITI usually need to get a central venous access device, such as a port or arterio-venous fistula, surgically implanted.