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By Beth Stover, RN
Clinical Education Coordinator
Hemophilia Health Services
Hemophilia is a rare, inherited disorder ranking among the most costly of diseases to treat. Many recent advances in therapy have driven the costs even higher. It is important to consider the high cost of the therapies required to treat hemophilia and the possible complications caused by delay or error in treatment. With those items in mind, it is easy to understand the value of a well-educated professional to aid in training clients to become as independent in their care as possible.
This is the first of a two-part article to provide insight into this rare but often debilitating and very expensive illness. Part I will offer background on the disorder, while Part II will focus on the aspects of home care and helping clients move toward a greater level of independence with their disorder.
Hemophilia is a condition that adversely affects the clotting of the blood. It is an X-linked recessive chromosomal disorder, carried by females, but affecting mainly males. There are approximately 15,000 males in the United States with hemophilia.
The disorder is characterized be the deficiency of one of the blood proteins usually found in the clotting cascade. Factor VIII Deficiency, also known as hemophilia A or classical hemophilia, is the most common form of hemophilia. Hemophilia A is four to five times more common than Factor IX deficiency, also known as hemophilia B or Christmas disease.
Hemophilia A and B are further categorized into severity subdivisions based upon the measured quantity of clotting factor in the plasma. The below chart shows the severity levels with their corresponding blood values:
|Diagnosed Severity||Plasma Factor Level|
|Normal||> 50 - 200%|
|Mild||> 5 - 50%|
|Moderate||1 - 5%|
People with hemophilia do not bleed any faster than someone with a normal factor level. However, they bleed longer. Bleeding episodes can occur anywhere in the body including into the muscles, soft tissue, joints, mucus membranes, internal organs, and central nervous system (CNS). These episodes are not always related to known trauma. Bleeds that occur without known cause are called spontaneous. Here are some common types of hemophilia bleeds:
•Superficial Lacerations: Small cuts or puncture wounds can usually be controlled with local firm, continuous pressure for 15 minutes. Larger cuts requiring sutures or ones that continue to bleed require factor treatment. Factor should always be given prior to placement or removal of sutures.
•Muscles or Soft Tissue Bleeds: Small surface hematoma and bruises usually do not require treatment. Pressure, ice, and elevation are often sufficient to stop the bleeding. Bleeding into a muscle such as the thigh or calf usually does require treatment. Muscle bleeds are often characterized by pain, stiffness, swelling, and firmness. Bleeds into confined areas such as the palms of the hands, the balls of the feet and the wrist and forearm may lead to compartmental syndrome and must be evaluated by a professional and watched carefully. Circumference measurements, neuro and capillary refill checks are a very important part of the ongoing assessment.
• Joint Bleeds (hemarthroses): Signs include: bubbling or tingling sensation, stiffness, pain, redness, warmth and swelling. When blood leaks into a joint space, the synovium and the cartilage are broken down and extensive damage may result. Joint spaces that repeatedly bleed are referred to as target joints. Joint bleeds frequently lead to arthritis, contractures, loss of mobility, and pain.
• Mucus Membrane Bleeds are often very difficult to treat, particularly in the mouth. The saliva is equipped with enzymes that are intended to break down food. However, they are also quite efficient in breaking down the clots necessary to heal a mucus membrane bleed. An oral medication (Amicar) is available by prescription to help prevent clot breakdown. For this reason, Amicar should not be given in the presence of other bleeding episodes as the "super clots" which are formed may lead to undesired complications such as a clot breaking off and travelling to the brain or other vital organs.
•Hematuria: Clients may experience lower back pain followed by dark brown or bright red urine that may contain blood clots. An increased fluid intake will help flush the system and keep small clots from blocking the ureters. Bed rest will usually be recommended for a few days as well as avoidance of lifting, straining, and vigorous activity for one to two weeks after the hematuria has stopped.
•Gastrointestinal (GI) Bleeding: Symptoms of GI bleeds may include: bloody or tarry stools, hemoptosis, pain in stomach, dizziness, weakness or shortness of breath. Professional evaluation is required, as large volumes of blood can be lost into the GI system.
• Central Nervous System (CNS) bleeds are the most serious. These bleeds are life threatening and may result in permanent disability or death. Clients that are suspected of having a CNS injury should immediately seek treatment at an emergency facility. Use of the Emergency Medical System (EMS) is highly recommended due to the need for immediate intravenous access and the possibility of alteration of life sustaining systems. If the client or a caregiver are immediately available and capable of performing a factor infusion, it is recommended that EMS be activated, then a factor infusion giving 100% replacement be given prior to or concurrent with transport. Symptoms may include headache, vomiting, confusion, irritability, decreased mental acuity, lethargy, or drowsiness. CNS bleeds can occur spontaneously or after a relatively mild trauma. Never allow a client to wait and see’ with a suspected CNS bleed!
Focus on an aura
The client is usually able to identify when a bleeding episode is occurring. Often, they will report a sense of warmth, tightness, or a tingling or bubbling at the site of the bleed. Some clients experience a sense of depression or irritability. These feelings are referred to as an aura, and are usually an excellent indicator of a new bleed. It is very important to listen to the client, as the longer treatment is prolonged, the more serious the resulting damage.
Prompt treatment can prevent further bleeding, as well as promote healing and prevent long-term damage such as muscle atrophy, contractures, arthritis, and significant pain. It is often hours or days before symptoms such as external swelling or warmth and redness are visible.
Treatment for hemophilia consists of intravenous factor replacement. There are a variety of products on the market that may be used, including those derived from human plasma, as well as those derived through recombinant technology. There are three main forms of treatment in use today:
• Reactive or prn therapy. This means that factor is given in response to an injury. Life is very unpredictable for those clients and their caregivers. This is currently the most common form of treatment in use in the United States.
• Planned preventive. In addition to using reactive therapy, clients will infuse prior to activities known to cause bleeding episodes. An example of this might be a man that infuses prior to his weekend basketball game.
• Prophylactic therapy. This type is further divided into secondary and primary prophylactic therapy. Secondary prophylaxis is a routine schedule of infusions, usually three times per week, begun after a client has had multiple bleeding episodes requiring treatment. Primary prophylaxis is when those routine scheduled infusions are started prior to the onset of bleeding episodes, perhaps as early as a few months of age. Prophylactic therapy has been in use in other countries for much longer than it has been used in the United States with tremendous success. Prophylactic therapy is recommended by the Medical and Scientific Advisory Council of the National Hemophilia Foundation.
Complications of therapy
• Allergic Reactions are rare but may occur. Mild symptoms may include itching, nasal congestion, coughing, hives or rash, and fever. Severe symptoms may include respiratory distress, swelling and constriction of the face, and throat and back pain.
After consulting with the hematologist, mild allergic reactions are often treated with an antihistamine in response, and possibly as a premedication in the future. It is possible that reactions may be related to a specific lot of medication. If a severe reaction occurs, notify EMS, administer an antihistamine, and notify the client’s hematologist about the pending transport. Be sure that the client takes the vial from the infused factor with them to the emergency department. No one should infuse while alone. An adult should always be present for assistance in case of a transfusion reaction.
• Bloodborne viruses including hepatitis and HIV have infected people using human-derived clotting factor in the past. Clotting factor in use today is treated by a variety of means to ensure safety against all known viruses. However, it is still very important for clients to practice universal precautions and to be ever vigilant in the watch for new contaminants.
• Loss of venous access is a constant worry for hemophilia-affected people. The majority of clients use butterfly-style needles in peripheral veins for their infusions. It is important that site rotation be taught and used to prolong access to those veins. Central devices can be placed, but with greater risks than those of the general population. It if for these reasons that only highly experienced infusion nurses should be utilized for those clients.
• Intravenous long-term device complications such as infection, clotting, line trauma, and accidental removal provide serious concerns that must be considered.
• Loss of reimbursement or insurance is a very real concern to the people affected by hemophilia and their families. The average cost for the drug alone for one infusion of clotting factor for a 110-pound male is approximately $1,000. Add to this the cost of doctor and hospital visits, specialists, physical therapy, and home nursing visits, and it is easy to understand how those patients can quickly reach a lifetime maximum on their insurance policies.
This article has outlined some of the basics of hemophilia. The lifelong nature of the illness, as well as the high cost of treatment requires that the clients and their caregivers have a thorough understanding of the disorder. The next issue of Home Infusion Therapy Management will cover the client’s responsibilities of home care and provide information for the professional to help the client move toward a greater level of independence.