HEMOPHILIA IN CHILDREN

child health nursing

1. Hemophilia Presented by, Mrs. Arifa T N Child Health Nursing Second year M.Sc Nursing MIMS CON

2. Introduction The term hemophilia refers to a group of bleeding disorders resulting from congenital deficiency or dysfunction or absence of specific coagulation proteins or factors . Mainly two classification A and B. Othe r classification Hemophilia A, B and C Hemophilia A, B and Von Willebrand disease ( vWD ) Symptomatology is similar regardless of which clotting factor is deficient.

3. Definition Hemophilia refers to a group of hereditary bleeding disorders that result from a deficiency in specific clotting factors . Hemophilia is not one disease but rather one of a group of inherited bleeding disorders  that cause abnormal or exaggerated bleeding and poor blood clotting. The term is most commonly used to refer to two specific conditions known as hemophilia A and hemophilia B.

4. Classification Hemophilia A, or classic hemophilia: Factor VIII deficiency Prevalence is approximately 1 in 5000 Hemophilia B, or Christmas disease Factor IX deficiency 1 in 20,000 to 30,000 live births Von Willebrand disease ( vWD ) Another hereditary bleeding disorder characterized by a deficiency, abnormality, or absence of the protein called von Willebrand factor ( vWF ).

5. Hemophilia A (Classical Hemophilia) It results from deficiency of factor VIII, the antihemophilic factor (AHF). It is X-linked recessive, occurring almost exclusively in the males*. The females act as the carriers without manifesting the disease. Hemophilia A accounts for 98% of all the hemophilics . The incidence in the population is 1 in 10 thousands

6. Hemophilia B (Christmas Disease ) It results from deficiency of factor IX, the plasma thromboplastin component (PTC). Hemophilia B accounts about 10% to 15% Hemophilia C It results from deficiency of factor XI, the plasma thromboplastin antecedent (PTA).

7. Mode of transmission Even though it is X-linked recessive, one third of hemophilia may be caused by gene mutation. Usual pattern is a cross between an unaffected male and trait carrier female The chances of its occurrence are 25% or 1:4

8. Etiology Hemophilias A and B are X-linked recessive disorders , which manifest almost exclusively as affected males and carrier females . Genes for clotting factors VIII and IX are located near the terminal long arm of the X chromosome A daughter will inherit the gene from her father with hemophilia and may transmit it to her sons Some children affected by hemophilia do not have a family member with a history of a clotting disorder. In these cases, the disorder is caused by a new mutation The degree of bleeding is related to the amount of clotting factor and the severity of the injury

9. Pathophysiology

10. Pathophysiology The basic defect of hemophilia A is a deficiency of factor VIII ( antihemophilic factor [AHF]). Factor VIII is produced by the liver and is necessary for the formation of thromboplastin in phase of blood coagulation The less factor VIII that is found in the blood, the more severe the disease . Individuals with hemophilia have two of the three factors required for coagulation: Vascular influence and platelets. Therefore, they may bleed for longer periods but not at a faster rate.

11. Clinical Manifestations Prolonged bleeding anywhere from or in the body Hemorrhage from any trauma: Loss of deciduous teeth, circumcision, cuts, epistaxis , injections Excessive bruising, even from a slight injury, such as a fall Subcutaneous and intramuscular (IM) hemorrhages Hemarthrosis (bleeding into the joint cavities), especially the knees, ankles, and elbows hematomas

12. Clinical Manifestations Pain, swelling, and limited motion Spontaneous hematuria Intracranial bleeding occurs in 10% of patients with severe hemophilia and has a mortality rate of 30%. Females who carry the trait for hemophilia do not usually manifest symptoms of the disease

13. Diagnosis Diagnosis of affected children and carriers can be done before birth through chorionic villus sampling or amniocentesis Genetic testing of family members is increasingly being used to identify carriers History Physical examination laboratory data. Low levels of factor VIII or IX, and prolonged activated partial thromboplastin time ( aPPT ). Prothrombin time (PT), thrombin time (TT), fibrinogen, and platelet count are normal .

14. Management The goal of medical management is to control bleeding by replacing the missing clotting factor. Desmopressin (DDAVP), An analog of vasopressin, stimulates the release of factor VIII stored in the blood vessels, thereby increasing the percentage of available factor by approximately threefold. DDAVP is effective in some patients with mild and moderate hemophilia A. Many recombinant factor VIII concentrates are available as replacement therapy for hemophilia A Factor IX concentrates are also available to treat hemophilia B

15. The child with severe hemophilia may be on a prophylactic regimen of replacement therapy , whereas the child with mild to moderate hemophilia may only receive episodic therapy. Prophylaxis decreases bleeding episodes and joint damage that may result from repeated episodes of hemarthrosis Prompt and adequate treatment is needed to prevent serious bleeding episodes and their sequelae . Gene therapy is being explored for treatment of hemophilia in hopes that an eventual cure will be found

16. Treatment in detail……….. The products available are factor VIII concentrates , either produced through genetically engineering (recombinant form) or derived from pooled plasma , which are reconstituted with sterile water immediately before use. A synthetic form of vasopressin, 1-deamino-8-d-arginine vasopressin (DDAVP), increases plasma factor VIII activity and is the treatment of choice in mild hemophilia and vWD types I and II A only if the child shows an appropriate response .

17. After DDAVP administration, a threefold to fourfold rise in factor VIII level activity should occur. It is not effective in the treatment of severe hemophilia A, severe vWD , or any form of hemophilia B. Aggressive factor concentrate replacement therapy is initiated to prevent chronic crippling effects from joint bleeding

18. Other drugs therapy, Corticosteroids are given for hematuria , acute hemarthrosis , and chronic synovitis Nonsteroidal antiinflammatory drugs (NSAIDs), such as ibuprofen, are effective in relieving pain Oral administration of ε- aminocaproic acid ( Amicar ) prevents clot destruction. Its use is limited to mouth trauma or surgery with a dose of factor concentrate given first.

19. Regular program of exercise and physical therapy . Regular program of exercise and physical therapy Treatment without delay results in more rapid recovery and a decreased likelihood of complications Most children are treated at home The family is taught the technique of venipuncture and to administer the AHF to children older than 2 to 3 years old. The child learns the procedure for self-administration at 8 to 12 years old.

20. Prophylactic therapy Prophylactic therapy is periodic factor replacemen t for children with severe hemophilia to prevent bleeding complications, including arthropathy and spontaneous life-threatening bleeding events Primary prophylaxis involves the infusion of factor VIII concentrate on a regular basis before the onset of joint damage. Secondary prophylaxis involves the infusion of factor VIII concentrate on a regular basis after the child experiences his or her first joint bleed..

21. The administration of infusions differs among treatment centers and may range from every other day to three times a week for several weeks to promote healing. On-demand factor replacement may be a cost-effective alternative to primary prophylaxis, but prophylaxis decreases the development of joint disease and preserves joint function compared with on-demand factor replacement treatment Prompt appropriate treatment of hemorrhage and prophylactic therapy are key to excellent care and prevention of long-term morbidity in patients with hemophilia.

22. Nursing management

23. Nursing Assessment and Diagnosis Physiologic Assessment Obtain a complete medical history from the parents or child Previous episodes of bleeding The occurrence of hemophilia or any other bleeding disorders in family members. Assess the child for any joint pain, swelling, or permanent deformity, particularly around the knees, elbows, ankles, and shoulders. Observe for prolonged bleeding or oozing of blood. Note the presence of hematuria and mild flank pain Conduct a neurologic assessment because the risk for intracranial hemorrhage and bleeding can lead to peripheral neuropathies

24. Psychosocial Assessment Difficulty for families to manage care of the child with hemophilia, especially if the disease is severe. Assess the family’s coping mechanisms and support systems. Determine the family’s ability to manage procedures and treatments; the factor concentrates and infusion equipment are costly. Assess older children’s understanding of the disease, limitations, and their adaptation to the disease.

25. Developmental Assessment Physical activity restrictions Physical skills may be delayed. Perform frequent developmental assessments, being particularly attentive to fine and gross motor skills.

26. Nursing diagnosis Acute Pain related to bleeding episodes Impaired physical mobility related to joint stiffness or contractures Impaired Home Maintenance related to challenges o f hemophilia Interrupted Family Processes related to family role shift required to care for a child with a chronic illness Risk for Injury related to bleeding disorder Risk for delayed growth and development As per child’s condition……..

27. Planning and Implementation Nursing care focuses on Preventing and controlling bleeding episodes, Limiting joint involvement and managing pain, and Providing emotional support. * Both short-term interventions and long-term management are necessary

28. Prevent and Control Bleeding Episodes Advise to parents for the need of close supervision and a safe environment. Parents should encourage children to play with safe, age-appropriate toys . When the child is hospitalized, use nursing approaches to minimize the possibility of bleeding. Ensure that the hospital environment is safe by orienting the child to the room and keeping the floor and room clear of hazards as much as possible.

29. Prevent and Control Bleeding Episodes If significant bleeding does occur, offer supportive measures and assist with factor replacement therapy. Carefully monitor the child’s condition for any side effects when factor replacement therapy is administered. Control any superficial bleeding by applying pressure to the area for at least 15 minutes. Immobilize and elevate the affected area, and apply ice packs to promote vasoconstriction

30. Tips to control bleeding*** Avoid taking temperatures rectally or giving suppositories. Avoid intramuscular injections unless absolutely necessary and only after factor replacement has been given. Children should receive recommended immunizations subcutaneously with firm pressure to the injection site for 5 minutes following the injection. Apply firm, continuous pressure to venipuncture sites 5 minutes after any venipuncture procedure. Do not give aspirin or aspirin-containing products

31. Limit Joint Involvement and Manage Pain Administration of factor replacement as quickly as possible Elevating and immobilizing the joint and applying ice packs Administering analgesics for pain. Once bleeding has been Controlled, range-of-motion exercises strengthen muscles and Joints and prevent flexion contractures. Physical therapy may be needed. Encourage the child to maintain an appropriate weight, because excessive weight can place added stress on joints.

32. Provide Emotional Support Comprehensive team approach . Refer the parents for genetic counseling as soon as possible after diagnosis. It is important to identify family members who carry the trait because they may suffer excessive bleeding during surgery. Encourage the parents to verbalize their feelings . Be understanding and sensitive to their needs. Teach the parents about hemophilia and explain how the disorder affects both the child and other family members. Refer the parents and child to organizations such as the National Hemophilia Foundation for further information.

33. Discharge Planning and Home Care Teaching Most care will subsequently take place in the home. Home care needs should be identified and addressed well in advance of discharge. Advise parents to have the child wear a medical identification bracelet . Dentists and all other healthcare providers should be aware of the diagnosis. Explain the cause of bleeding so both the child and parents understand the disease process.

34. Discharge Planning and Home Care Teaching Teach the child and family how to identify internal bleeding . Signs and symptoms such as joint pain, abdominal pain, and obvious bleeding are indicators for immediate factor infusion. Make sure the child and parents know what situations could cause bleeding to occur. **Teach parents to give acetaminophen instead of aspirin and aspirin-containing products

35. Discharge Planning and Home Care Teaching Instruct the parents and the child, when appropriate, to prepare and administer factor concentrate. If infusion of the missing factor is scheduled regularly, bleeding episodes can be controlled or avoided. Have the parents demonstrate the procedure and make sure they can administer the product correctly. Ensure that parents know where they can get the factor concentrate.

36. Discharge Planning and Home Care Teaching The child will need an individualized school health plan Members of the school staff should be instructed in management of emergencies. The nurse can identify key staff members in the school and teach them the actions that need to be taken Help the family and school in planning an appropriate schedule of activities for the child. Provide ongoing case management, assisting the family to take on this task if able.

37. Discharge Planning and Home Care Teaching Identify Family’s resources (financial burden) Refer families to appropriate social services Encourage sharing experiences with other families of children with hemophilia can provide support.

38. Tips *** Use the acronym RICE (rest, ice, compression, elevation) to help you remember important measures to control a bleeding episode.

39. Evaluation Injury to the child is prevented. Pain is managed to promote comfort level. The nurse and family promote normal growth and development for the child. The child and family have adequate knowledge of disease management, including recognition of bleeding and prompt initiation of infusion

40. Thank you