References:
- Wong’s Nursing Care of Infants and Children, 11th Edition, ISBN 978-0-323-54939-4, by Marilyn J. Hockenberry, David Wilson, and Cheryl C. Rodgers (Ch. 29, pp. 1357–1361)
The term hemophilia refers to a group of bleeding disorders resulting from congenital deficiency, dysfunction, or absence of specific coagulation proteins or factors. Although the symptomatology is similar regardless of which clotting factor is deficient, the identification of specific factor deficiencies has allowed definitive treatment with replacement agents.
In about 80% of all cases of hemophilia, the inheritance pattern is demonstrated as X-linked recessive. The two most common forms of the disorder are:
- Hemophilia A (Classic Hemophilia): Factor VIII deficiency (~1 in 5000 live male births) makes up ~80% of cases of hemophilia. This is the focus of this discussion.
- Hemophilia B (Christmas Disease): Factor IX deficiency (~1 in 20,000 to 30,000 live male births)
Clinical Manifestations
A major feature of hemophilia is that its expression varies markedly with regard to the degree of bleeding severity. Depending on factor VIII activity and bleeding tendencies, hemophilia is classified into three. Most children display it in its severe form (60% - 70%).
| Clinical Severity | Factor VIII Activity | Bleeding Tendency |
|---|---|---|
| Severe | <1% | Spontaneous bleeding without trauma |
| Moderate | 1% to 5% | Bleeding with trauma |
| Mild | >5% to 40% | Bleeding with severe trauma or surgery |
The effect of hemophilia is prolonged bleeding anywhere from or in the body. With severe factor deficiencies, hemorrhage can occur as a result of minor trauma. In children with less severe deficiencies, however, the bleeding tendency may not be noted until the onset of walking.
- Subcutaneous and intramuscular hemorrhages are common. Hemarthrosis (bleeding into joint cavities), is the most frequent form of internal bleeding. This may result in bony changes and crippling deformities occur after repeated bleeding episodes over several years. Early signs of hemarthrosis include a feeling of stiffness, tingling, or ache in the affected joint, followed by a decrease in the ability to move the joint. Obvious signs and symptoms are warmth, redness, swelling, and severe pain, with considerable loss of movement.
- Spontaneous hematuria is not uncommon.
- Epistaxis may occur but is not as frequent as other kinds of hemorrhage.
- Petechiae are uncommon in persons with hemophilia because repair of small hemorrhages depends on platelet function, not on blood-clotting mechanisms.
- Airway obstruction is a potentially serious complication if bleeding occurs in tissues in the neck, mouth, or thorax.
- Intracranial hemorrhage can be fatal and is one of the major causes of death.
- Anemia can result from hemorrhaging in the gastrointestinal tract.
- Bleeding in the retroperitoneal cavity is especially hazardous because of the large space for blood to accumulate.
- Paralysis can occur if hematomas form in the spinal cord.
Diagnostic Evaluation
The diagnosis is usually made from a history of bleeding episodes, evidence of X-linked inheritance (but a third of cases are new mutations), and laboratory findings.
Laboratory Testing
Diagnostic exams that evaluate bleeding by identifying platelet function (platelet function analysis, bleeding time, tourniquet test, clot retraction test) will appear normal for individuals with hemophilia. Their problem is with clotting factors, not platelets. Tests that assess clot factors include whole blood clotting time, prothrombin time (PT), partial thromboplastin time (PPT), thromboplastin generation test, prothrombin consumption test, and fibrinogen level.
Therapeutic Management
The problem is a missing clotting factor. The primary therapy is replacement of the missing clotting factor with factor VIII concentrates (recombinant or derived from pooled plasma).
- 1-deamino-8-D-arginine vasopressin (DDAVP, a synthetic vasopressin) is the treatment of choice in mild hemophilia and von Willebrand disease (vWD) (types I and IIA only) if the child shows an appropriate response— a threefold to fourfold rise in factor VIII activity.
- Aggressive factor concentrate replacement therapy is initiated to prevent chronic crippling effects from joint bleeding.
- Adjunct therapies are required depending on episodes and locations of bleeding.
- Regular exercise and physical therapy strengthens muscles around joints and may decrease the number of spontaneous bleeding episodes.
- Range-of-motion exercises should be done with caution after an acute episode. The joint capsule can strength and bleeding could recur, especially with passive ROM exercises. Active ROM is best so that the patient can gauge his or her own pain tolerance.
- Therapy may be done prophylactically for severe hemophilia to prevent bleeding complications, including arthropathy and spontaneous and life-threatening bleeding events.
Early recognition of joint and muscle bleeds is emphasized, since immediate adequate treatment with clotting factor is possible using home infusion therapy.
Nursing Care Management
- Prevent Bleeding: safe environment, exercise, supervision during playtime, limiting participation in contact sports, soft-bristled toothbrushes, electric shavers, medical identification.
- Recognize and Control Bleeding: the earlier recognition occurs, the more effective treatment is. Factor replacement therapy should be instituted according to established medical protocol and supportive measures may be implemented. Prior to (not as a substitute for) factor replacement, cold packs or plastic bags of ice should be kept in the freezer to aid in reducing bleeding.
- Prevent Crippling Effects of Bleeding: repeated episodes of hemarthrosis can result in flexion contractures and joint fixation. Replacement therapy and physical therapy are necessary to limit joint damage.
- During bleeding episodes, elevation and immobilization is used.
- After the acute phase, active range-of-motion exercises are instituted. Physical therapy promotes maximum function of the joint and unaffected body parts. To facilitate success of a physical therapy plan, analgesics may be required before therapy.
- Support the Family and Prepare for Home Care
- Identify Persons at Risk: genetic counseling is essential as soon as possible after diagnosis.
Quality Patient Outcomes for Hemophilia
• Early recognition of signs and symptoms of hemophilia • Bleeding episodes prevented • Bleeding episodes treated early with factor replacement • Adherence to prophylactic factor replacement program when indicated • Hemarthrosis prevented when possible with limited joint damage • Exercise program and physical therapy ongoing