It’s a warm afternoon, and you’re dispatched to a residential home for a 20-year-old who has fallen down stairs. When you arrive you grab your equipment and are greeted by a limping patient whose knee is swollen to the size of a cantaloupe. Your exam reveals no acute life threats, but when you ask the patient about his medical history, he says he’s a hemophiliac. What is that?
Hemophilia is a genetic disorder that causes a person’s blood to be unable to clot properly. There are two types: hemophilia A, which is classic hemophilia, and the rarer hemophilia B, also known as Christmas disease. Both result from a lack of coagulation factors in the blood that help control bleeding. Hemophilia A represents a lack of factor VIII, hemophilia B a lack of factor IX.1 There are also different levels of severity; people with mild hemophilia have between 5%–40% of the normal factor VIII or IX, people with moderate hemophilia have between 1%–5%, and people with severe hemophilia have less than 1% (see sidebar).
This deficiency is caused by a mutation of the gene that provides instructions for the clotting factor proteins in the body. These genes are located on the X chromosome; therefore, it can afflict both men and women. If a male child is born with the damaged gene, he will be afflicted with hemophilia; however, if a female child receives an X chromosome from one of her parents, she will only be a carrier of the gene and will not display most of the traits of the disease.2
Hemophilia affects one in every 5,000 male births, and there are approximately 20,000 males in the United States afflicted with the disease.2 Worldwide there are an estimated 400,000 people who are either hemophiliacs or carriers of the mutated X chromosome. Hemophilia A is four times as common as hemophilia B.3
While the majority of hemophiliacs receive infusions of factor VIII or IX, between 15%–20% will develop an antibody called an inhibitor that will prevent the artificial clotting factor from being able to clot the blood.2 When people are diagnosed with inhibitors, treatment becomes more expensive and difficult to obtain, as more or different types of clotting factors are needed to maintain a normal lifestyle. One of the leading areas of hemophilia research involves inhibitors.
Presently there is no solid evidence as to why these inhibitors occur, but according to research from 17 hemophilia treatment centers, the inhibitors affect hemophiliacs in the United States and developing world with equal risk. One interesting fact discerned from the studies is that many people did not even know they had inhibitors in their body. As a result it is recommended that every hemophiliac have routine checks of their blood for the presence of inhibitors.4
What Do We Do?
EMS should treat bleeding in those with hemophilia the same way we do any other external bleeding: direct pressure over the injury location and application of ice. Prehospital providers can also assist patients in administering their factor therapy if they have it available.5 However, with hemophiliac patients such as the one in the opening scenario, internal bleeding is a much greater concern.
Some edema following a fall isn’t a major cause for alarm. With hemophiliac patients the concern is that the swelling isn’t caused by edema but from a broken blood vessel bleeding into the joint. The most important treatment EMS can provide is to transport these patients to an appropriate facility. You’d assist this patient to the stretcher and apply ice to his injured knee, and, recognizing this situation requires more resources than your local hospital can provide, you’d locate the closest facility with a hemophilia treatment center that can administer factor VIII and transport the man in a position of comfort.
While the patient should know where the closest center to them is, providers can also go to https://dbdgateway.cdc.gov/HTCDirSearch.aspx to find the nearest one. These centers will typically be able to administer clotting factor concentrates to the patient.2
Sidebar: Degrees of Hemophilia
People with hemophilia A often bleed longer than other people. Bleeds can occur internally, into joints and muscles, or externally, from minor cuts or trauma. How frequently a person bleeds and the severity of those bleeds depends on how much factor VIII (FVIII) is in the plasma, the straw-colored fluid portion of blood.
Normal plasma levels of FVIII range from 50%–150%. Levels below 50%, or half of what is needed to form a clot, determine a person’s symptoms.
Mild hemophilia A—6% up to 49% of FVIII in the blood. People with mild hemophilia A generally experience bleeding only after serious injury, trauma, or surgery. In many cases mild hemophilia is not diagnosed until an injury, surgery, or tooth extraction results in prolonged bleeding. The first episode may not occur until adulthood. Women with mild hemophilia often experience menorrhagia, heavy menstrual periods, and can hemorrhage after childbirth.
Moderate hemophilia A—1% up to 5% of FVIII in the blood. People with moderate hemophilia A tend to have bleeding episodes after injuries. Bleeds that occur without obvious cause are called spontaneous bleeding episodes.
Severe hemophilia A—Less than 1% of FVIII in the blood. People with severe hemophilia A experience bleeding following injury and may have frequent spontaneous bleeding episodes, often into their joints and muscles.
—Source: National Hemophilia Foundation
1. Mayo Clinic. Hemophilia, www.mayoclinic.org/diseases-conditions/hemophilia/symptoms-causes/syc-20373327.
2. Centers for Disease Control and Prevention. What is Hemophilia?, www.cdc.gov/ncbddd/hemophilia/facts.html.
3. Khatri M. Understanding Hemophilia—the Basics. WebMD, www.webmd.com/a-to-z-guides/understanding-hemophilia-basics#1.
4. Soucie JM, Miller CH, Kelly FM, et al; Haemophilia Inhibitor Research Study Investigators. A study of prospective surveillance for inhibitors among persons with haemophilia in the United States. Haemophilia, 2014 Mar; 20(2): 230–7.
5. Drelich DA. Hemophilia A Treatment & Management. Medscape, https://emedicine.medscape.com/article/779322-treatment.
Dan Greenhaus, BS, NREMT, has been in public safety for over 20 years, working as an EMS professional, firefighter, and 9-1-1 dispatcher. He worked for several years in the New Brunswick and Newark (N.J.) EMS systems before relocating to North Carolina. He is currently a firefighter/EMT with the Wake New Hope Fire Department in Raleigh and works as an EMS/fire responder at North Carolina State University. Reach him at Dan@ESECTraining.com.