Published date: May 27, 2021
Everyone’s had a bruise or nosebleed at one time or another. But, when should you worry?
Both von Willebrand’s (VW) Disease and Hemophilia can increase bleeding and bruising. The most common is VW disease, impacting up to 1% of the population.
When blood vessels are injured, platelets attach to the injury and each other to plug the hole. Think of the VW protein as a fishing net holding the platelets together. When needed, your body casts the net into your bloodstream, and it gathers platelets to form a clot. If the protein doesn't work, the clot is unstable or too small to stop the bleeding.
VW Disease might show when children have a tooth pulled. The mouth might bleed for a while, then stop, bleed again and stop again. Another example is a girl with severe or long-lasting menstrual bleeding. Because human bodies are so different, it’s hard to determine what “normal” menstrual bleeding is, so doctors may not immediately consider VW as the cause.
Von Willebrand’s disease is diagnosed by measuring the amount of VW protein in the blood and seeing how it functions. Eliminating high-risk activities like contact sports or taking estrogen for girls with unusual menstrual bleeding is often the only treatment needed. Sometimes surgery or extensive bleeding requires a VW protein replacement. These treatments can help control and lower the risk of bleeding.
The second most common bleeding conditions are hemophilia A (factor 8) and hemophilia B (factor 9). When the factor 8 or 9 protein is missing or very low, the body can’t form a normal clot at the site of an injury, causing too much bleeding.
The majority of these hemophilia cases are X-linked diseases, meaning it is a gene carried by the mom and given to her son. One in 5,000 boys is diagnosed with hemophilia. Unlike VW, with bleeding in the skin, mouth and menstrual periods, hemophilia typically impacts boys and causes bleeding in the joints, muscles and brain.
Bleeding in joints causes inflammation, joint pain, joint damage, severe arthritis and limited range of motion. If a bleed occurs in the brain, neck or spinal cord, it can cause life-long problems or even death. The amount of factor 8 or 9 protein predicts the risk of bleeding severity. Patients with no protein present have a very high risk for life-threatening bleeding. Those that make some protein are at a lower risk for severe bleeding problems.
Treatment includes avoiding high-risk behaviors and using IV medications to treat bleeds. Many patients take treatments at home to maintain the missing protein levels, and treatments are sometimes needed every other day.
Currently, research studies are looking at gene therapies for hemophilia to help the body produce factor 8 or 9 and correct the defect. We don’t yet know how long such a therapy would be effective.
Fifty years ago, the average life span of patients with hemophilia was about 20 years. Now, with a care team of specialists, new medicines and a better understanding of this disease, people with inherited bleeding disorders can lead near-normal lives.
Arkansas Children’s Arkansas Center for Bleeding Disorders is the only federally recognized and supported Hemophilia Treatment Center in the state. Our team of medical professionals takes part in several research opportunities in the treatment of hemophilia and von Willebrand’s disease, including gene therapy. We are also certified by the National Hemophilia Foundation for providing comprehensive care to children and teens with bleeding disorders.