Hemophilia.pdf

HEMOPHILIA The term hemophilia refers to a group of bleeding disorders resulting from congenital deficiency, dysfunction, or absence of specific coagulation proteins or factors In about 80% of all cases of hemophilia, the inheritance pattern is demonstrated as X-linked recessive. The two most com...

HEMOPHILIA The term hemophilia refers to a group of bleeding disorders resulting from congenital deficiency, dysfunction, or absence of specific coagulation proteins or factors 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 factor VIII deficiency (hemophilia A, or classic hemophilia) and factor IX deficiency (hemophilia B, or Christmas disease) Von Willebrand disease (vWD) is another hereditary bleeding disorder characterized by a deficiency, abnormality, or absence of the protein called von Willebrand factor (vWF). Pathophysiology The basic defect of hemophilia A is a deficiency of factor VIII (antihemophilic factor). Factor VIII is produced by the liver and is necessary for the formation of thromboplastin in phase I of blood coagulation. The less factor VIII that is found in the blood, the more severe the disease. Clinical Manifestations ❖ A major feature of hemophilia is that its expression varies markedly with regard to the degree of bleeding severity. Hemophilia is generally classified into three groups according to the severity of the factor deficiency; 60% to 70% of children with hemophilia demonstrate the severe form of the disorder. Clinical Severity of Hemophilia Clinical Factor Bleeding Severity VIII Tendency Activity Severe 5%-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, such as after circumcision, during loss of deciduous teeth, or as a result of a slight fall or bruise. 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, which refers to bleeding into the joint cavities, especially the knees, elbows, and ankles, is the most frequent form of internal bleeding. ❖ Bony changes and crippling deformities occur after repeated bleeding episodes over several years. Early signs of hemarthrosis are 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. ❖ Bleeding into the tissue can occur anywhere but is serious if it occurs in the neck, mouth, or thorax because the airway can become obstructed. ❖ Intracranial hemorrhage can have fatal consequences and is one of the major causes of death. ❖ Hemorrhage anywhere along the GI tract can lead to anemia, ❖ bleeding into the retroperitoneal cavity is especially hazardous because of the large space for blood to accumulate. ❖ Hematomas in the spinal cord can cause paralysis Diagnostic Evaluation The diagnosis is usually made from 1- a history of bleeding episodes, 2- evidence of X-linked inheritance (only one-third of cases are new mutations), 3- and laboratory findings. The results of tests that measure platelet function, such as the bleeding time, are all normal in persons with hemophilia, whereas the results of tests that assess clotting factor function may be abnormal PTT have prolonged 4- The tests specific for hemophilia include factor VIII and IX assays, procedures normally done by specialized laboratories 5-. Carrier detection is possible in classic hemophilia using DNA testing and is an important consideration in families in which female offspring may have inherited the trait. Therapeutic Management 1-the main line of management of hemophilia is the prevention of bleeding prompt treatment to limit further tissue damage. 2-Bleeding must be controlled by the demonstration of factor VIII, this may be supplied by fresh whole blood or by a concentration of factor VIII 1 ml of normal plasma contains 1 unit of factor VIII, because the plasma volume is about 45 ml/kg, it is necessary to infuse 45 units/kg of factor VIII to increase its level in the hemophiliac recipient from 1-100% (0-100% units/dc), a dose of, 25- 50 units/kg of factor VIII is usually given to raise the recipient level to 50-100% (50-100%units/dc) of normal, because the half-life of factor VIII in the plasma is about 8-12 hr, repeated infusions can be given, as necessary, to maintain the desired level of activity. Adjunct Therapies for Hemophilia A Site of Bleed Treatment Joint Rest, ice, elevation Splint, elastic wrap, crutches Physical therapy Soft tissue Ice, elevation Splint or elastic wrap Muscle Rest, ice, elevation  Splint, elastic wrap, crutches Physical therapy Complete bed rest for iliopsoas muscle bleed Mucous membrane (e.g., nose, mouth) Pressure to nares (for nosebleed) Topical antifibrinolytic agent (ε- aminocaproic acid) Nasal pack (sometimes necessary) Nursing Care Management Prevent Bleeding 1- decreasing the risk of injury. 2- Prevention of bleeding episodes is geared mostly toward appropriate exercises to strengthen muscles and joints and to allow age-appropriate activity. 3- During infancy and toddlerhood, the normal acquisition of motor skills creates innumerable opportunities for falls, bruises, and minor wounds. ❖ Restraining the child from mastering motor development can bring more serious long-term problems than allowing the behavior. ❖ However, the environment should be made as safe as possible, with close supervision maintained during playtime to minimize incidental injuries. 4- For older children the family usually needs assistance in preparing the child for school. ❖ A nurse who knows the family can be instrumental in discussing the situation with the school nurse and in joint planning of an appropriate activity schedule. Because almost all individuals with hemophilia are boys, the physical limitations in regard to active sports may be a difficult  adjustment, and activity restrictions must be tempered with sensitivity to the child’s emotional and physical needs. Use of protective equipment, such as helmets, face masks, shin/wrist/forearm guards, kneepads, and other equipment appropriate for the type of athletic activity, is encouraged to prevent injury. 5- Children and adolescents with severe hemophilia can participate in noncontact sports such as swimming, golf, walking, jogging, fishing, and bowling. Contact sports such as football, boxing, hockey, wrestling, and rugby are strongly discouraged because the risk of injury outweighs the physical and psychosocial benefits of participating in these sports.