HemophiliaA. Definition: 1. Hemophilia is a group of hereditary bleeding disorder characterized by a deficiency in a blood-clotting factor. 2. The two most common forms are factor VIII deficiency (classic hemophilia, hemophilia A) and factor IX deficiency (Christmas disease, hemophilia B). The classic form is the most common. 3. Hemophilia is classified as mild, moderate or severe depending on the level of factor produced by the body.B. History: 1. In 1803, Dr. John Conrad Otto, a Philadelphia physician, wrote an account about “a hemorrhagic disposition existing in certain families.” 2. He recognized that the disorder was hereditary and that it affected males and rarely females. 3. The first usage of the term “hemophilia” appears in a description of the condition written by Hopff at the University of Zurich in 1828. 4. Pavlosky, a doctor from Buenos Aires, found Hemophilia A and Hemophilia B to be separate diseases by doing a lab test.
C. Etiology: 1. Hemphilia is an X-linked recessive disorder transmitted by females and found predominantly in males. It may also caused by gene mutation.
D. Pathophysiology: 1. In hemophilia A, there is a deficiency of, or a defect in, factor VIII (antihemophilic factor [AHF]), which is necessary for the formation of thromboplastin. 2. In hemophilia B, there is a defect or deficiency of factor IX. 3. Clotting factor malfunction causes abnormal bleeding owing to impaired ability to form a fibrin clot.E. Assessment findings: 1. Clinical Manifestations a. Hemophilia is suspected in a newborn with excessive bleeding from the umbilical cord or after circumcision. b. In mild hemophilia, characterized by a factor level of 5% to 50%, children have prolonged bleeding only when they have been injured. c. In moderate hemophilia, characterized by a factor level of 1% to 5%, prolonged bleeding occurs with trauma or surgery, but there may be episode of spontaneous bleeding as well. d. In severe hemophilia, characterized by a factor level under 1%, prolonged bleeding occurs spontaneously without injury. e. Common manifestations can include: 1. Easy bruising 2. Prolonged bleeding from wounds 3. Spontaneous hematuria 4. Epistaxis 5. Hemarthrosis (hemorrhages in the joints causing pain, swelling and limited movement) f. Complications may include: 1. Bone changes, osteoporosis and muscle atrophy, resulting in crippling deformities as a consequence of hemarthrosis 2. Intracranial bleeding 3. Gastrointestinal hemorrhage, leading to intestinal obstruction 4. Hematomas in the spinal cord, resulting in paralysis 5. Airway obstruction due to bleeding into the neck, mouth or thorax 2. Laboratory and diagnostic study findings a. Coagulation studies will reveal normal prothrombin and bleeding times, normal fibrinogen levels, low factor VIII in hemophilia A, low factor IX in hemophilia B, and a prolonged partial thromboplastin time. b. CBC will reveal a normal plate count. c. DNA testing for hemophilia A will detect carriers of the disease d. Amniocentesis will diagnose hemophilia prenatally.F. Nursing Management: 1. Assess for acute or chronic bleeding a. The skin, joints and muscles are assessment priorities b. Check vision, hearing, and neurologic development. c. Check for hematuria and bleeding from the mouth, lips, gums and rectum.
2. Administer the missing clotting factor (ie factor VIII or factor IX concentrate) a. Due to recombinant DNA technology, the risk of transmitting human immunodeficiency virus (HIV), hepatitis, and other viruses has been eliminated because recombinant factor VIII is not derived from human plasma. b. Recombinant factor IX will soon be available.3. Administer DDAVP (desmopressin) to children with mild to moderate hemophilia A. a. DDAVP promotes the release of factor VIII. b. It is not used in hemophilia B.4. Prevent or minimize bleeding a. Assess home safety and teach about injury prevention. Consider the child’s developmental level to ask specific safety questions. b. Recommend using a soft toothbrush and point out the need for regular dental checkups: c. Major bleeding requires hospitalization with nursing management. 1. Monitor for bleeding and its consequences. 2. Provide joint care (exercise). d. Control bleeding by applying pressure and cold to the injury site and by elevating and immobilizing the injured area. e. Observe for swelling and tenderness in the joints, and prevent contractures. Prevent crippling effects of joint degeneration by implementing a physical therapy program. f. Monitor for signs of hypovolemia.5. Provide Support a. Foster the child’s self-esteem by encouraging him or her to express concerns and feelings and by promoting a positive self-image. b. Encourage family members to verbalize their feelings, especially about any guilt they may have due to the genetic nature of the disorder. Assist their coping efforts by providing information about the disease and its management. c. Refer to the child and family to support groups such as the national hemophilia Foundation.6. Provide the child and family teaching. a. Explain how to care for, administer, store and reconstitute the replacement factor. b. Inform the child and family that superficial injuries are treated with ice and pressure. c. Identify signs of hemarthrosis and teach parents how to immobilize the joint, pack it in ice, and administer replacement factor. d. Assist the child and parents to recognize signs of major bleeding (central nervous system manifestations such as headache, blurred vision, vomiting, lethargy, confusion and seizures) e. Explain the possible side effects of therapy. f. Demonstrate passive ROM exercises. g. Emphasize avoidance of aspirin and aspirin-containing compounds.
h. Provide diet information because weight increase can impose further stress on joints.G. Treatment: 1. The main treatment for hemophilia is “replacement therapy” — giving or replacing the clotting factor that is too low or missing. 2. Concentrates of the clotting factor are infused, or injected, directly into the bloodstream. The specific factors used to treat hemophilia are: Factor VIII for hemophilia A – Factor IX for hemophilia B 3. Replacement therapy can be used: a. To prevent bleeding (prophylactic or preventive therapy) b. To stop bleeding when it occurs, on an as-needed basis (demand therapy) 4. The type of treatment you receive depends on several things, including whether you have mild, moderate or severe hemophilia. a. Mild hemophilia. Replacement therapy is usually not needed for mild hemophilia; however, a medicine called desmopressin (DDAVP) is sometimes given to raise the body’s levels of factor VIII. Since the effect wears off with chronic use, it is applied only in certain situations (for example, prior to dental work or participation in sports) to prevent or reduce bleeding. Desmopressin does not help in hemophilia B. b. Moderate hemophilia. You may need treatment only when bleeding occurs. You will need to learn to recognize signs and symptoms of bleeding so that you can get treatment as quickly as possible. You also may have treatment to prevent bleeding that could occur when participating in some activity. c. Severe hemophilia. You usually need long-term or shorter term preventive therapy to prevent bleeding that could cause permanent damage to your joints, muscles or other parts of the body. Some people with severe hemophilia receive treatment only when bleeding occurs, however.