Hemophilia refers to a group of congenital coagulation disorders that are characterized by a deficiency or malfunction of specific clotting factors. Hemophilia A, or classic hemophilia, is caused by a defect in factor VIII (antihemophilic factor). Hemophilia B, or Christmas disease, is caused by a defect in factor IX (plasma thromboplastin component, or Christmas factor). Hemophilia A is more common, occurring once per 5000 to 10,000 live male births, contrasted with hemophilia B, which occurs once per 30,000 live male births. Hemophilia C, or factor XI (plasma thromboplastin antecedent) deficiency, is even more rare, accounting for less than 5% of hereditary coagulopathies. The mortality rate for persons with hemophilia is twice that of the healthy male population, and for severe hemophilia, the rate is almost six times higher.
Of patients who have hemophilia, 85% have hemophilia A, which is classified by levels of factor VIII. Severe hemophiliacs have less than 1% activity and have bleeding episodes that require factor VIII therapy several times per month. Moderate hemophiliacs have 1% to 5% activity and have varying need for factor VIII therapy, whereas mild hemophiliacs have greater than 5% activity and require intervention only after trauma or surgery.
Persons with hemophilia are able to form a platelet plug but are unable to form a stable clot. Clinical manifestations and complications of hemophilia are usually secondary to recurrent bleeding. Complications from subcutaneous and intramuscular hematomas are caused by compression of nerves or other structures, resulting in peripheral neuropathies, pain, compromised airway, muscle atrophy, ischemia, and gangrene. Hemarthrosis, or bleeding into the joint or synovial cavity, is a common complication that often results in joint deformities. Life-threatening hemorrhage may result from minor injuries.
All forms of hemophilia are the result of an X-linked recessive trait disorder (see Genetic Considerations). Approximately one-third of all hemophiliacs have no family history of bleeding disorders, which indicates that there may be factors other than heredity involved and that the illness is a result of a new mutation.
Nursing care plan assessment and physical examination
Question the patient, parents, or caregiver about any history of prolonged bleeding episodes, either spontaneous or following any injury in the patient or family. Determine the patient’s age at diagnosis and the specific nature of the bleeding problem; in the case of a child, determine the family member’s relationship to the patient.
Note hematomas from subcutaneous and intramuscular bleeding. Tissue over the bleeding site is hard, raised, and dark purple. The hemorrhage extends from this center concentrically, with each successive outer circle becoming lighter in color. Intramuscular bleeding usually spreads within a single fascial space. Fever or pain may occur, with or without the skin discoloration. Monitor the patient for frank or occult hematuria, melena, or hematemesis. Bleeding disproportionate to the extent of a traumatic injury is characteristic of hemophilia. Typically, the bleeding is an intermittent oozing type that develops over several hours or days after the injury or procedure. Wound healing is often delayed. When the patient’s extremities are moved, note joint pain and swelling caused by hemarthrosis, or spontaneous or trauma-induced bleeding into the joint or synovial cavity. Acute hemarthrosis is often preceded by a warm tingling sensation in the affected joint. If absorption of the blood from around the periarticular structures is incomplete, the remaining blood can cause chronic inflammation of the synovial membranes. Other long-term clinical sequelae of hemarthrosis include impaired joint mobility, bone deformity and demineralization, and stunted growth. Approximately 40% of hemophilia patients have splenomegaly; there have been some reported cases of spontaneous splenic rupture.
Hemophilic patients and their families contend with the challenges of a chronic illness and the constant threat of life-threatening hemorrhage. Children often feel isolated from their peers because of the activity restrictions. Feelings of guilt are common among mothers of hemophilic children. Research studies have shown a positive correlation between children’s adaptation to hemophilia and parental acceptance of the disease. Also, children who have a greater understanding of hemophilia and its treatment are less likely to experience psychological distress.
Nursing care plan primary nursing diagnosis: Risk for injury related to altered hemostasis and adverse effects of treatment.
Nursing care plan intervention and treatment plan
Replacement therapy and drug therapy may be used prophylactically or to control mild or major bleeding episodes. Desmopressin will raise factor VIII levels two- to threefold. Factor VIII replacement therapy is indicated for active bleeding or preparation for multiple tooth extractions or major surgery. Cryoprecipitate contains high levels of factor VIII and fibrinogen. Purified plasma-derived factor VIII concentrates are derived from large pools of plasma donors. Recent methods of screening and heating of these concentrates have greatly diminished the risk of contamination with the human immunodeficiency virus (HIV) but have little effect on the risk of hepatitis transmission. High-potency factor VIII preparations (those that are highly purified) are considered to be virtually virus-free. Recombinant factor VIII contains less risk of viral transmission but has a relatively high cost. A rule of thumb is that for every 1 unit/kg infused, factor VIII levels will increase 2%. In an emergency, a 50 unit/kg IV bolus will increase levels to 100%. Factor VIII, also found in fresh-frozen plasma (FFP), is usually reserved for hemophilia A patients who are actively bleeding. Bleeding episodes in hemophilia B can be treated with FFP or purified factor IX. Hemophilia C rarely requires intervention. Prophylactic replacement therapy for factor VIII or factor IX deficiency has been found to be beneficial in preventing spontaneous bleeding episodes and in minimizing bleeding complications such as joint disease. Any incidence of head trauma should receive immediate therapy that raises the factor VIII or IX levels to 100% normal before any diagnostic tests are performed. Intracranial hemorrhage is the most common cause of death in hemophiliacs; approximately 50% of these are associated with acute head injury.
To prevent trauma that may precipitate bleeding episodes, avoid intramuscular injections and minimize the number of venipuncture attempts. Alert other health team members about the patient’s high risk for bleeding. Avoid sources of mucosal irritation such as rectal temperatures, urinary catheters, and suppositories. Use only sponge sticks and nonalcoholic rinses for oral care. Assure that tourniquets or blood pressure cuffs are applied no longer than necessary. Perform nasopharyngeal or oropharyngeal suctioning very gently and only when needed. Prevent skin breakdown through the use of frequent turning and preventive skin care. When bleeding occurs, apply firm, direct pressure for at least 5 minutes or until bleeding has stopped completely to sites of subcutaneous injections and venipuncture sites. Use sandbags and pressure dressings to maintain pressure on large puncture sites after hemostasis has been established.
Initially, provide rest and elevation to a bleeding joint. Initiate mobilization within a few days after the bleeding is controlled to facilitate restoration of normal joint range of motion. Apply ice packs to control epistaxis, hematoma formation, and hemarthrosis. Evaluate the family’s current coping mechanisms and the level of anxiety. Encourage the patient and family members to verbalize their feelings openly and clearly with staff and with each other.
Nursing care plan discharge and home health care guidelines
Teach the patient and family the early and late clinical manifestations of bleeding. Outline measures to prevent bleeding episodes, such as use of a soft-bristled toothbrush or sponge sticks, avoidance of activities that are likely to result in trauma, and avoidance of nonsteroidal anti-inflammatory drugs. Emphasize the importance of carrying identifying medical information at all times. Teach the patient or caregiver to inform all healthcare providers about the patient’s diagnosis. Describe immediate actions the patient or caregiver should take to control bleeding. List indicators of the need for medical assistance. Teach the patient or caregiver the purpose of each medication, the correct procedure for administration, and potential adverse effects. Provide the patient or family with a list of referrals for genetic counselors, social workers, vocational counselors, or psychologists to assist in the long-term adjustment as necessary.