Hemophilia Treatments Have Come a Long Way
With appropriate medical care, people with hemophilia are living healthier lives.
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Gone are the days when a hemophilia diagnosis meant you could not live a normal life. Now more treatments are approved by the Food and Drug Administration (FDA), and people with the condition can better manage bleeding. That’s good news as thousands observe World Hemophilia Day on April 17, 2014.
Hemophilia is a rare bleeding disorder. It is usually hereditary, but it can be acquired in rare cases if a person’s body develops antibodies that attack clotting factors in the bloodstream. Hereditary hemophilia usually occurs in males and currently affects about 23,500 Americans.
People with hemophilia are lacking one or more important clotting factors, which are proteins needed for blood clotting. Several types of clotting factors exist and there are two main types of hemophilia, says Nisha Jain, M.D., chief of the Clinical Review Branch in FDA’s Office of Blood Research and Review. Hemophilia A occurs when people have low levels, or missing, clotting factor VIII (8). Hemophilia B occurs when people have low, or missing, clotting factor IX (9).
People with hemophilia may bleed for a longer time than others after injury or surgery. They may also have internal bleeding—especially in knees, ankles, and elbows—that can damage organs and tissues and even be life-threatening.
"We have seen shifting toward the prevention of bleeds,” says Nisha Jain, M.D., chief of the Clinical Review Branch in FDA’s Office of Blood Research and Review.
At present hemophilia is not curable, but treatments have come a long way, Jain says.
Hemophilia is sometimes called the “Royal Disease” because it affected the royal family of England during the 1800s. By the 1960s, hemophilia was treated with whole blood or fresh plasma. But these treatments didn’t have enough factor VIII or IX proteins to stop serious internal bleeding.
Now the primary type of hemophilia treatment is replacement therapy: Concentrates of clotting factor VIII (for hemophilia A) or clotting factor IX (for hemophilia B) are injected into a patient’s vein to replace low or missing factor.
These concentrates have traditionally been made from human blood. Today, an increasing number are made using recombinant DNA technology (a form of artificial DNA), with some made without any material sourced from humans or animals. The final product is a powder that is mixed with sterile water before use.
Some people have regular preventive or “prophylactic” therapy to prevent bleeding. This can be done in less than five minutes, excluding prep time, Jain explains. Others have therapy only as needed.
The type and frequency of treatment varies depending on the severity of hemophilia, which can be classified as mild, moderate or severe.
People with mild hemophilia have 6% to 49% of the normal levels of clotting factors in their blood. They generally only have bleeding problems after serious injury or surgery.
Those with moderate hemophilia—about 15 percent of the hemophilia population, according to the
National Hemophilia Foundation—have 1% to 5% of normal clotting factor levels. They can have bleeding problems after injury and spontaneously.
Those with severe hemophilia—about 60% of the hemophilia population, per NHF—have less than 1% of normal clotting factor levels. They bleed after injury and may have frequent spontaneous bleeding, including bleeds into joints and muscles. In addition to factor replacement, pain medication and physical therapy are also used to lessen pain and swelling if joint bleeds occur.
“The mild patients rarely need treatment. And moderate patients are the same,” explains Jain. In certain situations, such as before dental work, patients with mild hemophilia receive Desmopressin (DDAVP) a man-made hormone that increases the level of factor in the blood. “Patients with severe hemophilia are those who really need treatment to prevent or resolve bleeds.”
Doctors, particularly hematologists who specialize in the study of blood, tend to identify people with severe hemophilia early. “Patients can be diagnosed as infants during circumcision,” says Jain. Then families can work with hematologists and hematology treatment centers.
“In recent times, we have seen shifting toward the prevention of bleeds,” Jain says. “You want to prevent bleeding that causes joint damage. Once joint damage starts, it is difficult to stop progression unless bleeding into joints is reduced.”
The treatments for hemophilia continue to improve, and FDA has approved many replacement factors in recent years. For instance, in March 2014 it approved Alprolix, the first Hemophilia B treatment designed to require less frequent injections when used to prevent or reduce the frequency of bleeding. It also recently approved Rixubis—a factor IX product—to control, prevent and reduce bleeding associated with hemophilia B. And the agency approved Novoeight, a factor VIII product, for control of bleeding and a routine prophylaxis treatment for adults, adolescents and children with hemophilia A.
Of course, the agency continues to carry out its broad responsibility to regulate medicines made from blood and blood components, including clotting factors. Today, due to strengthened FDA safeguards and oversight, these products are safer than they have ever been.
“Patients should stay informed about various treatment options,” Jain adds, “and should consult with their health care providers to obtain, and follow, a comprehensive management plan.”
She says those with hemophilia tend to be well-educated about their health and notes, “With appropriate treatment and care, people with hemophilia can, and do, live normal lives.”
This article appears on FDA's Consumer Updates page, which features the latest on all FDA-regulated products.
April 16, 2014