How Is Hemophilia Treated?

Treatment With Replacement Therapy

The main treatment for hemophilia is called replacement therapy. Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are slowly dripped in or injected into a vein. These infusions help replace the clotting factor that's missing or low.

Clotting factor concentrates can be made from human blood that has been treated to prevent the spread of diseases, such as hepatitis. With the current methods of screening and treating donated blood, the risk of getting an infectious disease from human clotting factors is very small.

To further reduce that risk, you or your child can take clotting factor concentrates that don't use human blood. These are called recombinant clotting factors. Clotting factors are easy to store, mix, and use at home—it only takes about 15 minutes to receive the factor.

You may have replacement therapy on a regular basis to prevent bleeding. This is called preventive or prophylactic (PRO-fih-lac-tik) therapy. Or, you may only need replacement therapy to stop bleeding when it occurs. This use of the treatment, on an as-needed basis, is called demand therapy.

Demand therapy is less intensive and less expensive than preventive therapy. However, there's a risk that bleeding will cause damage before the demand therapy is given.

Complications of Replacement Therapy

Complications of replacement therapy include:

• Developing antibodies (proteins) that act against the clotting factor
• Developing viral infections from human clotting factors
• Damage to joints, muscles, or other parts of the body resulting from delays in treatment

Antibodies to the clotting factor. Antibodies can destroy the clotting factor before it has a chance to work. This is a very serious problem. It prevents the main treatment for hemophilia (replacement therapy) from working.

Antibodies to clotting factor, also called inhibitors, develop in about 20 percent of people who have severe hemophilia A and 1 percent of people who have hemophilia B.

When antibodies develop, doctors may use larger doses of clotting factor or try different clotting factor sources. Sometimes, the antibodies go away.

Researchers are studying ways to deal with antibodies to clotting factors. They also are studying whether a larger single-dose of clotting factor may be better than repeated, smaller doses for some patients.

Viruses from human blood factors. Clotting factors can carry the viruses that cause HIV/AIDS and hepatitis. However, no documented case of these viruses being transmitted during replacement therapy has occurred for about a decade.

Transmission of viruses has been prevented by:

• Careful screening of blood donors
• Testing of donated blood products
• Treating donated blood products with a detergent and heat to destroy viruses
• Vaccinating people who have hemophilia for hepatitis A and B

Researchers continue to find ways to make blood products safer.

Damage to joints, muscles, and other parts of the body. Damage resulting from delays in treatment can include:

• Bleeding into a joint. If this happens many times, it can lead to changes in the shape of the joint and impair function).
• Swelling of the membrane around a joint.
• Pain, swelling, and redness of a joint.
• Pressure on a joint from swelling, which can destroy the joint.

Home Treatment With Replacement Therapy

Both preventive (ongoing) and demand (as-needed) replacement therapy can be done at home. Many people learn to do the infusions at home for their child or for themselves. Home treatment has several advantages:

• You or your child can get quicker treatment when bleeding happens. Early treatment means that fewer complications are likely to occur.
• Fewer visits to the doctor or emergency room are needed.
• Home treatment costs less than treatment in a medical care setting.
• Home treatment helps children accept treatment and take responsibility for their own health.

Discuss options for home treatment with your doctor or your child's doctor. A doctor or other health care provider can teach you the steps and safety procedures for home treatment. Another valuable resource for learning about home treatment is hemophilia treatment centers (discussed in "Living With Hemophilia").

Vein access devices can be surgically implanted to make it easier to get into a vein for treatment with replacement therapy. These devices can be helpful when such treatment occurs often. However, infections can be a problem with these devices. Your doctor can help you decide whether this type of device is right for you or your child.

Other Types of Treatment

Desmopressin

Desmopressin (DDAVP) is a man-made hormone used to treat people who have mild to moderate hemophilia A. DDAVP isn't used to treat hemophilia B or severe hemophilia A.

DDAVP stimulates the release of stored factor VIII and von Willebrand factor; it also increases the level of these proteins in your blood. Von Willebrand factor carries and binds factor VIII, which can then stay in the bloodstream longer.

DDAVP usually is given by injection or as nasal spray. Because the effect of this medicine wears off when used often, it's given only in certain situations. For example, you may take this medicine prior to dental work or before playing certain sports to prevent or reduce bleeding.

Antifibrinolytic Medicines

Antifibrinolytic medicines (including tranexamic acid and aminocaproic acid) may be used with replacement therapy. They're usually given as a pill, and they help keep blood clots from breaking down.

These medicines most often are used before dental work or to treat bleeding from the mouth or nose or mild intestinal bleeding.

Gene Therapy

Researchers are trying to find ways to correct the faulty genes that cause hemophilia. Such gene therapy hasn't yet developed to the point that it's an accepted treatment. But researchers continue to test gene therapies for hemophilia in clinical trials.

Which Treatment Is Best for You?

The type of treatment you or your child receives depends on several things, including how severe the hemophilia is, the activities you'll be doing, and the dental or medical procedures you'll be having.

• Mild hemophilia—Replacement therapy usually isn't needed for mild hemophilia. But DDAVP sometimes is given to raise the body's level of factor VIII.
• Moderate hemophilia—You may need replacement therapy only when bleeding occurs or to prevent bleeding that could occur when doing certain activities. Your doctor also may recommend DDAVP prior to having a procedure or doing an activity that increases the risk of bleeding.
• Severe hemophilia—You usually need replacement therapy to prevent bleeding that could cause permanent damage to your joints, muscles, or other parts of your body. Typically, replacement therapy is given at home two or three times a week. This preventive therapy usually is started in patients at a young age and may need to continue for life.

For all types of hemophilia, getting quick treatment for bleeding to limit damage is important. Learn to recognize signs of bleeding.

Family members also should learn to watch for signs of bleeding in a child who has hemophilia. Children sometimes ignore signs of bleeding because they want to avoid the discomfort of treatment.