Chapter 32 Hemophilia
PATHOPHYSIOLOGY
Hemophilia is a congenital blood coagulation disorder in which the child is deficient in clotting factor VIII (hemophilia A) or factor IX (hemophilia B, or Christmas disease). It is an inherited disorder that is transmitted by an X-linked recessive gene from the maternal side. Factor VIII and factor IX are plasma proteins that are necessary components of blood coagulation; they are needed for the formation of fibrin clots at the site of vascular injury. Severe hemophilia results when plasma concentrations of factors VIII and IX are less than 1%. Moderate hemophilia occurs with plasma concentrations between 1% and 5%. In mild hemophilia (severe bleeding only after major trauma and surgery), plasma concentrations are between 6% and 50% of the normal level. The clinical manifestations depend on the child’s age and the severity of the deficiency of factors VIII and IX. Severe hemophilia is characterized by recurrent hemorrhages, occurring either spontaneously or after relatively minor trauma (20 to 30 episodes per year). The most common sites of hemorrhage are the joints, the muscles, and soft tissue. The most common joint sites are the knees, the elbows, the ankles, the shoulders, and the hips. The muscles most often affected are the forearm flexor, the gastrocnemius, and the iliopsoas. Bleeding into the joint or muscle can lead to pain, limited mobility, need for ongoing physical therapy, and some degree of impaired functioning. Life-threatening bleeding episodes can occur in the brain, the gastrointestinal tract, and the neck and throat. Because of improvements in treatment, almost all individuals with hemophilia are expected to live a normal life span. Preliminary data from experimental gene therapy are promising.
INCIDENCE
1. Incidence is 1 in 5000 male births.
2. Incidence of hemophilia A is 20.6 in 100,000.
3. Incidence of hemophilia B is 5.3 in 100,000.
4. Mild hemophilia (5% to 49% factor activity) has bleeding episodes after trauma or surgery.
5. Moderate hemophilia (1% to 5% factor activity) has bleeding after stress or overuse injury to joints or muscles.
6. Severe hemophilia (<1% factor activity) has bleeding with the above in addition to spontaneous bleeding.
7. The family histories of two thirds of affected children reveal an X-linked recessive form of inheritance.
8. About 30% of cases are the result of new mutations.
9. Central nervous system bleeding occurs in 3% of affected children.
10. Spontaneous bleeding and posttraumatic intracranial bleeding are associated with a 34% mortality rate and a 50% rate of long-term morbidity.
11. Of individuals with hemophilia A and hemophilia B, 10% develop immunoglobulin G antibodies that inhibit the activity of factors VIII and IX.
COMPLICATIONS
LABORATORY AND DIAGNOSTIC TESTS
1. Screening tests for blood coagulation
2. Liver biopsy (sometimes)—used to obtain tissue for pathologic examination and culture
3. Liver function tests (sometimes)—used to detect presence of liver disease (e.g., serum glutamic-pyruvic transaminase, serum glutamic-oxaloacetic transaminase, alkaline phosphatase, bilirubin levels)
MEDICAL MANAGEMENT
The management of hemophilia consists of the administration of factor VIII or IX on a prophylactic basis or to treat bleeding episodes. Prophylactic administration is performed 2 to 3 times a week to maintain levels of factor VIII or IX. The amount administered depends on the plasma level of the deficient factor needed to treat the specific bleeding episode, and it must be sufficient to allow for the distribution of the factor throughout the body and its clearance from plasma. Dose varies from 15 units/kg to 100 units/kg, depending on the severity of the bleeding episode, child’s weight, and type of factor deficiency. It is administered by slow intravenous push or continuous intravenous infusion. Other methods used to treat bleeding episodes are the infusion of frozen plasma and cryoprecipitate (factor VIII). Desmopressin (DDAVP) is also used to increase plasma levels of factor VIII and can be used for nontransfusional treatment of individuals with mild or moderate hemophilia. The administration of oral aminocaproic acid (Amicar) may also be used at times to help stabilize clots. Before the introduction of hepatitis vaccinations and viral inactivation procedures, hepatitis A, B, and C and HIV infection were serious complications associated with treatment. Plasma-derived factors are now safer for use, and recombinant products are used in treating approximately 60% of individuals with severe hemophilia in the United States. General treatment guidelines include these five principles: treat promptly, test for blood borne viruses, keep immunizations up-to-date, remain active, and visit a hemophilia treatment center regularly. Nationwide, federally funded hemophilia treatment centers staffed by interdisciplinary teams composed of hematologists, orthopedic specialists, dentists, nurses, social workers, and physical therapists provide comprehensive and interdisciplinary care to individuals and their families.
NURSING ASSESSMENT
2. Assess child for verbal and nonverbal behaviors indicating pain.
3. Assess site of involvement for extent of bleeding and sensory, nerve, and motor impairment.
4. Assess child’s or adolescent’s ability to engage in self-care activities (i.e., brushing teeth).
5. Assess child’s or adolescent’s and family’s readiness for discharge and ability to manage home treatment regimen.
NURSING INTERVENTIONS
Acute Episode
1. Monitor response to administration of plasma products and DDAVP. Record amount of factor received, time, and child’s response to treatment.
2. Monitor child’s pain behaviors and response to administration of pain medication and to nonpharmacologic measures to relieve pain (refer to Appendix I).
3. Monitor for further bleeding episodes; observe for signs and symptoms of bleeding.
4. Protect from further injury.
5. Encourage quiet age-appropriate play or diversional activities (see Appendix F).
6. Provide age-appropriate explanations before treatments and procedures (see the Preparation for Procedures or Surgery section in Appendix F).
Discharge Planning and Home Care
1. Instruct child or adolescent and parents on assuming self-care responsibilities for long-term management of hemophilia.
2. Discuss options and plan lifestyle activities to support achievement of developmentally appropriate milestones related to schooling, social relationships, and leisure and recreational pursuits, and achievement of self-care skills in activities of daily living (Appendix B).
3. Learn safety measures to prevent further injuries (avoidance of contact sports and physical play).
4. Discuss with parents and child methods to encourage autonomy and self-determination.
5. Refer family to appropriate community-based resources.
6. Encourage parents and child to express feelings about hemophilia and limitations it imposes on activities.
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Christie B. Nurses’ guide to bleeding disorders. New York: National Hemophilia Foundation; 2002. editor
Curry H. Bleeding disorder basics. Pediatr Nurs. 2005;30(5):402.
Mannucci P, Tuddenham E. Medical progress: the hemophilias—from royal genes to gene therapy. N Engl J Med. 2001;344(23):1773.
Nursing Working Group,. National Hemophilia Foundation: The basics of hemophilia (website):. www.hemophilia.org/resources/nurses/hemophilia.ppt. Accessed December 8, 2002
Petrini P. Treatment strategies in children with hemophilia. Pediatr Drug. 2002;4(7):427.
