HJAR May/Jun 2021

HEALTHCARE JOURNAL OF ARKANSAS  I  MAY / JUN 2021 43 research phase but appears promising. We do not know how long such a therapy may last or the cost. Some predications are up to $2-$4 million for a one-time treatment. The care of these patients requires a great deal of education, support and comprehensive care. Hemophilia Treatment Centers are the model for care teams. These teams are comprised of physicians specialized in caring for patients with bleeding disorders, a nurse practitioner or physician assistant, a physical therapist to assist in the management of joint problems and mobility, a social worker to help with issues at school and/or work and behavior issues, a dentist, psychologist, orthopedist and gynecologist. Fifty years ago, the average life span of patients with hemophilia was about 20 years. Now, with a team of specialists, new medicines and better understanding of this disease, people with inherited bleeding disorders are able to lead near normal lives. n Kimo C. Stine, MD, is a professor of pediatrics at the University of Arkansas for Medical Sciences practicing at Arkansas Children’s Hospital. He is the medical director for the Arkansas Center for Bleeding Disorders, the only federally recognized and supported Hemophilia Treatment Center in the state of Arkansas. Stine attended medical school and completed a pediatric residency at the Kansas University Medical Center in Kansas City, Kansas. From there, he went to Duke Universi- ty Medical Center for a fellowship in pediatric hematology-oncology. His team takes part in several research opportunities in the treatment of hemophilia and vonWillebrand’s disease, in- cluding gene therapy. The team participates in the American Thrombosis and Hemostasis Network, the Hemophilia and Thrombosis Research Soci- ety and are members of the Hemophilia Alliance. They are also working with families and doctors in Kosovo to help them begin a Hemophilia Treat- ment Center through the guidance of the World Federation of Hemophilia. problems or even death. The amount of the protein present can predict the severity of the risk of bleeding. Patients that have no protein present are severe or high risk for spontaneous life-threatening bleeding. Those that make some protein are at a lesser risk for those types of problems. Treatment for Hemophilia Treatment includes avoiding high-risk behaviors and often using IV replacement medications to treat bleeds. Many patients now self-administer their intravenous medicine on a regular basis to try to maintain a certain level of the missing protein to minimize the risk of bleeding (prophylaxis therapy). Due to the half-life of these products, they may have to be administered as often as every other day. Recently, a new medicine, emicizumab, has become available. It is administered subcutaneously weekly or every other week and replaces the IV prophylaxis medicine. However, if a bleed occurs, the patient still must administer the IV protein replacement. Not only must factor replacement be given intravenously, it is very expensive. The adult on prophylaxis factor replacement may use close to $500,000 worth in one year to minimize the risk of bleeding. Other types of medications are being studied that may alter the management of hemophilia. Currently, there are research studies looking at gene therapies for hemophilia. This involves administering the DNA that programs production of the missing protein in a “viral envelope.” This envelope delivers the DNA to the liver, where the DNA begins to produce the factor VIII or IX and possibly correct the defect in the patient. This is still in the Kimo C. Stine, MD Medical Director Arkansas Center for Bleeding Disorders Arkansas Children’s Hospital an intranasal spray that has been used for several years but has been removed from the market by the manufacturer. It is hoped that a replacement for this medicine will become available in the near future. Stimate stimulates the body to release stored amounts of the VW protein to a level that can often stop the bleeding. Patients that require IV VW replacement therapy are taught how to self-administer this medication at home or at work to control their bleeding and minimize risk for bleeding. Other Bleeding Conditions The next most common inherited bleeding conditions we see are hemophilia A (factor VIII) and Hemophilia B (Factor IX). When one of these factors is missing or markedly reduced, the body is unable to form a normal fibrin clot at the site of a vessel injury. This results in bleeding. Both Hemophilia A and B are X-linked diseases, meaning the genetic mutation is passed from mother to son. However, about 30% of cases are spontaneous mutations, meaning the mother is not a carrier. The incidence is about 1/5000 male children, and there are about 20,000 people with hemophilia in the U.S. This is very different from VW, which can occur in males and females and is much more common. Patients with VW tend to bleed in the skin, the mouth and with menses. Patients with hemophilia tend to bleed into the joints, muscles and possibly into the brain and other areas. Blood in the joint can cause inflammation, joint pain, joint damage, severe arthritis and limitation of range of motion. If a bleed occurs in the brain, neck or spinal cord, it can result in life-long