Bleeding disorders are a group of genetic conditions characterized by the blood’s inability to clot properly due to a deficiency of one or more key proteins. Occurring most often in families with a history of the condition, about 30% of cases are also present as spontaneous mutations at random.
Hemophilia is perhaps the most well known bleeding disorder even though it is rare, affecting only an estimated 20,000 nationwide. A chronic condition, it impacts mostly males, although it occurs in women as well. More than half of the hemophilia population is categorized as severe cases.
The main symptom is controlled, often spontaneous bleeding, without a known injury. Internal bleeding in muscles, organs and into joints can result in pain, swelling and if left untreated, can pose short-term health risks, cause permanent physical damage and be life threatening.
In the past, people with hemophilia were treated with clotting factor obtained from human blood donor plasma, but by the early 1980s these products were discovered to be transmitting blood-borne viruses, including hepatitis and HIV. What is now widely considered the worst medical disaster in U.S history, more than half of the hemophilia population became infected and many lost their lives. Many of those who survived are still living with related complications.
Thanks to improved screening techniques, and a major breakthrough in recombinant technology that allow the creation of synthetic blood factors in the laboratory, today’s factor-replacement therapies are very pure and much safer then ever before.
While these treatments are highly effective for the majority, about 30% of individuals develop an immune response called an inhibitor, which prevents the medicine from working properly, causing further complications. In addition, the available treatments are very expensive; hemophilia is regularly ranked as one of the top five costliest conditions to treat.
The treatments are administered via intravenous injections. Depending on the case and severity, these infusions can be necessary multiple time per week or daily. In some individuals where the drug is difficult to administer due to poor access to veins or otherwise medical ports can be required.
There is no cure for this life-long condition.
Von Willebrand Disease affects males and females equally. However, because symptoms can be mild, many people affected have not been diagnosed. People with VWD have decreased or malfunctioning Von Willebrand factor (VWF) activity and therefore cannot form a proper platelet plug.