Hemophilia Nursing Care Planning and Management Study Guide

Hemophilia is an X-linked clotting-factor deficiency, so the child in front of you is almost always a boy who bleeds out of proportion to the insult. Your job on the floor is to anticipate bleeds before they happen, get factor in fast when they do, protect the joints, and teach a family that will manage this for life. Severity tracks the residual factor level, and that level decides how aggressive your prophylaxis and precautions need to be.

What is Hemophilia

Hemophilia results from mutations at the factor VIII or IX loci on the X chromosome, each occurring in mild, moderate, and severe forms. A similar degree of factor VIII or factor IX deficiency produces clinically indistinguishable disease, because the end result is the same: deficient activation of factor X by the factor Xase complex (FVIIIa/FIXa/calcium and phospholipid). Hemophilia A is an X-linked recessive disorder caused by deficiency of functional plasma clotting factor VIII (FVIII), inherited or from spontaneous mutation. Hemophilia B, or Christmas disease, is an inherited X-linked recessive disorder that produces deficiency of functional plasma coagulation factor IX.

Pathophysiology

In hemophilia A, FVIII is produced mainly by the vascular endothelium in the liver and the reticuloendothelial system. FVIII deficiency, dysfunctional FVIII, or FVIII inhibitors disrupt the normal intrinsic coagulation cascade, causing excessive hemorrhage after trauma and, in severe cases, spontaneous hemorrhage. Human synovial cells make high levels of tissue factor pathway inhibitor, which drives a higher degree of factor Xa (FXa) inhibition and predisposes hemophilic joints to bleed; this also explains the dramatic response to activated factor VII (FVIIa) infusions in patients with acute hemarthroses and FVIII inhibitors. Bleeding into a joint provokes synovial inflammation that sets up the next bleed, and a joint with repeated bleeds (by one definition, at least 4 bleeds within a 6-month period) becomes a target joint. About 30% of patients with severe hemophilia A develop alloantibody inhibitors that bind FVIII; these are typically immunoglobulin G (IgG), predominantly the IgG4 subclass, and they neutralize replacement therapy.

In hemophilia B, factor IX deficiency, dysfunctional factor IX, or factor IX inhibitors disrupt the same intrinsic cascade, producing spontaneous and/or trauma-driven hemorrhage. Bleeding sites include joints (knee, elbow), muscles, CNS, GI, GU, pulmonary, and cardiovascular systems. Factor IX is a vitamin K-dependent single-chain glycoprotein synthesized first by the hepatocyte, with extensive posttranslational modification before secretion into the blood. The intrinsic system starts when factor XII is activated by contact with damaged endothelium; the extrinsic system converts factor X to factor Xa using tissue factor (thromboplastin), factor VII, and calcium ions. FVIII and FIX circulate inactive, and once activated they cooperate to cleave and activate factor X, the key enzyme controlling conversion of fibrinogen to fibrin. Lose either factor and clot formation fails, which is the bleeding you see clinically.

Statistics and Incidences

Hemophilia A is the most common X-linked genetic disease and the second most common factor deficiency after von Willebrand disease (vWD). Worldwide incidence of hemophilia A is roughly 1 case per 5000 males, and about one-third of affected individuals have no family history. In the United States the prevalence of hemophilia A is 20.6 cases per 100,000 males; in 2016 the US hemophilia population was estimated at about 20,000. It occurs across all races and ethnic groups, and because it is X-linked recessive it appears predominantly in males, with females usually asymptomatic carriers. Hemophilia B incidence is approximately 1 case per 25,000 to 30,000 male births, prevalence 5.3 cases per 100,000 males, with 44% of those having severe disease. Of all hemophilia cases, 80 to 85% are hemophilia A, 14% are hemophilia B, and the rest are other clotting abnormalities.

Causes

Both forms are genetic. Hemophilia A comes from an inherited or acquired mutation that leaves factor VIII dysfunctional or deficient, or from an acquired inhibitor that binds factor VIII. Hemophilia B is an X-linked recessive disease from an inherited or acquired mutation in the factor IX gene, or from an acquired factor IX inhibitor.

Clinical Manifestations

Suspect hemophilia with hemorrhage out of proportion to trauma, spontaneous hemorrhage, or a family history of bleeding. About 30 to 50% of patients with severe hemophilia present with neonatal bleeding (for example after circumcision); others present with severe hematoma, prolonged bleeding from the cord or umbilical area, or bleeding at blood-draw or immunization sites. Gross hematuria occurs in as many as 90% of patients. Expect weakness and orthostasis. Musculoskeletal bleeds bring tingling, cracking, warmth, pain, stiffness, and a child who refuses to use the joint. CNS bleeds bring headache, stiff neck, vomiting, lethargy, irritability, and spinal cord syndromes. GU and abdominal bleeds may be painless, with possible hepatic or splenic tenderness and peritoneal signs.

Assessment and Diagnostic Findings

Confirm hemophilia A and B by measuring the following. A chromogenic assay measures plasma factor VIII activity and is considered more accurate by some, though it is less widely available in US labs. Core laboratory studies for suspected hemophilia include a complete blood cell count, coagulation studies, and a factor VIII (FVIII) assay. Noncontrast head CT assesses for spontaneous or traumatic intracranial hemorrhage. MRI of the head and spinal column evaluates spontaneous or traumatic hemorrhage and is useful for cartilage, synovium, and joint space. Ultrasonography evaluates joints with acute or chronic effusions. Test for inhibitors when a bleed is not controlled despite adequate factor concentrate. Carrier screening measures the ratio of FVIII coagulant activity to von Willebrand factor (vWF) antigen; a ratio less than 0.7 suggests carrier status. Radiography is of limited value in acute hemarthrosis but can show chronic degenerative joint disease in untreated, undertreated, or recurrently bleeding joints.

Medical Management

Treatment covers prophylaxis, management of bleeding episodes, treatment of FVIII inhibitors, and treatment and rehabilitation of hemophilic synovitis.

Prehospital care is rapid transport to definitive care; apply aggressive hemostatic techniques, assist patients capable of self-administered factor therapy, and gather focused history if the patient cannot communicate. In the ED, use aggressive hemostatic techniques and correct coagulopathy immediately. Work up the hemorrhage but never delay indicated coagulation correction for diagnostic testing. Acute joint bleeds and expanding large hematomas need adequate factor replacement over a prolonged period until the bleed resolves by clinical or objective measures. Life-threatening bleeds are generally treated initially with FVIII levels of approximately 100%, tapering only as the clinical picture allows.

Various FVIII and FIX concentrates treat hemophilia A and B; continuous infusion improves hemostasis and lowers total factor used, which saves cost. Obtain factor level assays daily before each infusion to establish a stable replacement dose and frequency. Desmopressin, the vasopressin analog 1-deamino-8-D-arginine vasopressin (DDAVP), is the treatment of choice for mild and moderate hemophilia A; it triggers a transient rise in plasma FVIII and can produce enough hemostasis to stop a bleed or prepare a patient for dental and minor surgical procedures. For an acute joint bleed, immobilize the limb and apply ice to cut swelling and pain; early infusion at the first symptom often prevents the need for a second infusion by heading off the joint inflammatory reaction, and prompt adequate replacement is the key to preventing long-term complications.

Inhibitors are antibodies that neutralize FVIII and can render replacement ineffective, and treating these patients is difficult. Assuming no anamnestic response, low-titer inhibitors (concentrations below 5 Bethesda units [BU]) can occasionally be overcome with high-dose factor VIII; there is no established treatment for bleeding in patients with high-titer inhibitors. Prophylactic infusion aims to prevent bleeding and organ damage, especially to joints. In December 2013 the FDA expanded the indication for anti-inhibitor coagulant complex (Feiba NF) to include routine prophylaxis in hemophilia A or B patients who have developed inhibitors, based on a pivotal phase III study in which prophylaxis cut the median annual bleed rate 72% versus on-demand treatment.

For pain, hemophilic chronic arthropathy hurts; narcotics have been used but risk addiction with frequent use, so NSAIDs are often preferred because their effect on platelet function is reversible and they manage acute and chronic arthritic pain. Avoid aspirin because its effect on platelet function is irreversible. For activity, patients with severe hemophilia should avoid high-impact contact sports and high-trauma activities, though appropriate physical activity improves conditioning, lowers injury rate and severity, and improves psychosocial functioning. Gene therapy approaches include ex vivo therapy (cells modified to secrete factor VIII, then reimplanted), in vivo therapy (a vector, typically a virus carrying FVIII DNA, injected directly), and nonautologous therapy (factor-secreting cells in immunoprotected implanted devices). In patients with synovitis from joint bleeds, intra-articular injection of radioisotopes to ablate the synovium (radiosynovectomy) decreases bleeding, slows cartilage and bone damage, and prevents arthropathy.

Pharmacologic Management

Factor VIII (FVIII) is the treatment of choice for acute or potential hemorrhage in hemophilia A; recombinant FVIII concentrate is the preferred source, and prophylactic FVIII is often recommended for pediatric patients with severe disease. Antifibrinolytic agents such as aminocaproic acid and tranexamic acid are useful for oral mucosal bleeds but are contraindicated as initial therapy for hemophilia-related hematuria from the upper urinary tract, because they can cause obstructive uropathy or anuria. Factor IX is the treatment of choice for acute or presumed acute hemorrhage in hemophilia B, with recombinant factor IX preferred. Coagulation factor VIIa can activate factor X to factor Xa and factor IX to IXa. FVIII concentrates replace deficient FVIII in hemophilia A to achieve a normal response to hemorrhage or prevent it; use recombinant products initially and thereafter in all newly diagnosed cases needing replacement, and use agents that bypass FVIII activity (activated FVII) in patients with FVIII inhibitors. Antihemophilic agents control bleeding in hemophilia B or FIX deficiency and prevent or control bleeding in hemophilia A with inhibitors to FVIII. Monoclonal antibodies bind one specific target and can mimic, block, or change precise mechanisms (bridging molecules, replacing or activating enzymes or cofactors, immune stimulation). Desmopressin transiently raises the FVIII plasma level in mild hemophilia A.

Nursing Management

Nursing Assessment

Take a history aimed at hemorrhage disproportionate to trauma, spontaneous hemorrhage, family bleeding disorders, and concomitant illness (especially conditions tied to acquired hemophilia such as chronic inflammatory disorders, autoimmune disease, hematologic malignancies, and allergic drug reactions). On exam, assess joint swelling and the ability to move an affected limb, and once bleeding has stopped, assess for limited ROM, contractures, and bony joint changes.

Nursing Diagnoses

Acute pain related to traumatic injury to the muscles. Impaired physical mobility related to pain and discomfort with the onset of bleeding episodes. Compromised family coping related to incorrect or inadequate information. Risk for bleeding related to decreased clotting factors in the blood (factor VIII and factor IX). Risk for injury related to decreased clotting factor (VIII or IX).

Nursing Care Planning and Goals

The child experiences decreased pain, maintains optimal physical mobility with normal ROM and ADLs within ability, has a family that copes effectively with the illness, and has reduced risk of injury from bleeding through appropriate prophylactic measures.

Nursing Interventions

To relieve pain, immobilize joints and apply elastic bandages to the affected joint when indicated, elevate the limb, and apply a cold compress to active bleeding sites, using cold cautiously in young children to prevent skin breakdown. To maintain mobility, provide gentle passive ROM exercise once the child is stable, teach preventive measures such as protective gear and factor administration, and refer for physical therapy, occupational therapy, and orthopedic consultation as needed. To support the family, have members verbalize problem areas and develop their own solutions, and encourage them to express feelings about the chronic needs of a family member and the coping patterns that help or hinder adjustment.

To prevent bleeding, monitor hemoglobin and hematocrit, assess for inhibitor antibody to factor VIII, anticipate or teach the need for prophylactic treatment before high-risk situations (invasive diagnostic or surgical procedures, dental work), and provide replacement of deficient clotting factors. To prevent injury, use appropriate toys (soft, not pointed or small sharp objects), pad crib bed rails for infants, avoid rectal temperatures, and provide safe oral hygiene (a water irrigating device, a soft toothbrush or one softened with warm water, a sponge-tipped toothbrush). Avoid contact sports such as football, soccer, ice hockey, and karate.

Evaluation

Goals are met when the child has decreased pain, maintains optimal physical mobility with normal ROM and ADLs within ability, has a family coping effectively with the illness, and has reduced injury risk from bleeding through appropriate prophylactic measures.

Documentation Guidelines

Document baseline and subsequent assessment findings including signs and symptoms, individual cultural or religious restrictions and personal preferences, the plan of care and persons involved, the teaching plan, the client's responses to teaching and interventions, attainment or progress toward outcomes, and long-term needs with who is responsible for actions to be taken.