4. hemophiliaa.pptx

Pediatric Nursing

1. Hemophilia The Royal Disease Laxmi Dahal Lecturer

2. CONTENTS Introduction to clotting factors Introduction to disease Incidence Pathophysiology Clinical manifestation Diagnosis Management Complications Prognosis Organizations working for hemophilia in Nepal

3. Introduction Hemophilia- “love of bleeding” 2 types: A and B Hemophilia A : X linked recessive hereditary disorder that is due to defective or deficient factor VIII . Hemophilia B : also X linked inherited disorder due to deficiency of factor IX . Hemophilia C : refer to a lack of clotting factor XI.

4. In c idence It is the second most common inherited clotting factor abnormality . 1 in 5000-10000 live male births . No difference between racial groups .

5. Pathophysiology

6. Pathophysiology

7. Gen e t i cs Transmitted by females, suffered by males . The female carrier transmits the disorder to half their sons and the carrier state to half her d augh t e rs . The affected male does not transmit the disease to his sons but all his d augh t e rs are all carriers .

8. Clinical Manifestations: Hemarthrosis Path o physiology: Bleeding probably starts from synovial vessels into the synovial space. Reabsorption of this blood is often incomplete leading to chronic proliferative synovitis .

9. Pathophysiology of hemarthrosis There is destruction of surrounding structures as well-bone necrosis and cyst formations.

10. Clinical Manifestations: Hemarthrosis The most common, painful and most physically, economically and psychologically debilitating m a n i f es t a t i on . Clinically: Aura : tingling warm sensation Excruciating pain Generally affects one joint at the time

11. Clinical Manifestations: Hemarthrosis Most commonly : knee; but there are others as elbows, wrists and ankles. Edema, erythema, warmth and LOM Complications: Chronic involvement with joint deformity complicated by muscle atrophy and soft tissue contractures .

12. Clinical Manifestations Hematomas Subcutaneous and muscular hematomas spread within fascial spaces . May compress vital structures . Muscle hematomas: 1)calf, 2)thigh, 3)buttocks, 4)fore arms Psoas hematoma Retroperitoneal hematoma

13. Clinical manifestations Intracranial hemorrhage Leading cause of death Spontaneous or following trauma May be subdural, epidural or intracerebral Suspect always in hemophilic patient that presents with unusual headache .

14. Clinical manifestations Others Gastrointestinal Bleeding Mucous Bleeding Epistaxis, gum bleeding. Genitourinary Bleeding Frequently severe hemophiliac can experience hematuria

15. Laboratory diagnosis Complete blood count (CBC) Reticulocytes Clotting factors Bleeding times APTT, PT (Activated Partial Thromboplastin Clotting Time) Genetic or DNA testing

16. Treatment General Considerations Avoidance of aspirin and NSAIDs. No IM injections . Counseling for patient and family, both genetic and psychosocial, encouraging normal socialization .

17. Treatment Factor replacement Replacement of F VIII/ IX is the cardinal step to prevent or reverse acute bleeding episodes Dosing: on the basis of body weight or plasma volume ( aprox 5% of body weight) 1 U/ml = 100% factor activity In a severe hemophiliac, to raise F VIII to 100% activity or 1 U/ml, we need 50 U/kg

18. Factor VIII concentrates Hemofil M(Baxter) Immunate (Baxter) Koate -DVI(Bayer)

19. Factor IX concentrates Immunine (Baxter) Aimafix ( Kedrion )

20. Treatment Factor replacement Sources of F VIII Plasma FFP was used as the only replacement therapy until 1960s. Not really much effective since it could only raise f VIII to 20%, by giving the patient many liters Patients used to have to spend most of their time in the hospital .

21. Treatment Factor replacement Cryoprecipitate By mid 1960s C old insoluble material obtained from plasma contained high levels of F VIII and fibrinogen 1 unit of FFP prepared by cryoprecipitate contains 50-120 U of VIII Plasma Derived f VIII prepared by monoclonal antibodies .

22. T r eatment Others Antifibrinolytic Agents Epsilon aminocaproic acid Inhibit fibrinolysis by inhibiting plasminogen activator . Adjuvant therapy for dental procedures Contraindicated in hematuria

23. Antifibrinolytic Agents Transient increase in F VIII levels in patient with mild hemophilia. Mechanism : release from endothelial storage sites Repeated administration results in a diminished response- tachyphylaxis Side effects: hyponatremia, facial flushing and headache Desmopressin

24. Treatment Bleeding in the joint may need surgery or immobilization. Patient may need rehab of the affected joint. This may include physical therapy and exercise to strengthen the muscles around the area.

25. Nursing management Assessment History Assess for bleeding (epistaxis, ecchymosis) Assess for involvement of joint and bone Range of motion Brain involvement (orientation, consciousness, GCS)

26. Nursing diagnosis Acute Pain related to hemarthrosis Impaired Physical Mobility Risk for Bleeding Risk for Injury Compromised Family Coping

27. C omplications Long-term joint problems T umor-like enlargements, of the muscle and bone. Replacement therapy: Development of F VIII antibodies Liver disease resulting from hepatitis B and C Infection with HIV

28. Course and prognosis Self-infused factor VIII or IX can allow a child with hemophilia to lead a near normal lifestyle.

29. Life expectancy D epends on whether patients receive appropriate treatment. Many patients die before adulthood due to inadequate treatment. With proper treatment, life expectancy is only about 10 years less than healthy men.

30. Organizations working for hemophilia in Nepal Nepal Hemophilia Society Management of safe treatment products Keeping database Raising awareness about hemophilia. Interactions with various hospitals within the Organizing training, workshops Establishing strong and sound national-international networks. Constant lobbying and advocacy with the government.

31. Organizations working for hemophilia in Nepal 2. Novo nordisk Hemophilia Foundation Identify 100 new cases of haemophilia each year Develop diagnostic capabilities in Nepalgunj (Far West) and increase the capacity of Civil Service Hospital (CSH). Enable people with haemophilia . Empower and strengthen. Raise awareness of haemophilia amongst government, civil society and organisations .

32. “ Only Nepal and Bangladesh in South Asia do not provide free treatment for the disease”.

33. REFERENCES History | National Hemophilia Foundation [Internet]. National Hemophilia Foundation. 2021 [cited 18 April 2021]. Available from: https://www.hemophilia.org/bleeding-disorders-a-z/overview/history#:~:text=A%20Royal%20Disease,B%2C%20or%20factor%20IX%20deficiency . What is Hemophilia? | CDC [Internet]. Centers for Disease Control and Prevention. 2021 [cited 18 April 2021]. Available from: https://www.cdc.gov/ncbddd/hemophilia/facts.html [Internet]. Google.com. 2021 [cited 18 April 2021]. Available from: https://www.google.com/search?q=clotting+factors+mnemonic&source=lmns&hl=en&sa=X&ved=2ahUKEwiG_s6w6YjwAhXNBSsKHclGCxcQ_AUoAHoECAEQAA Treatment of Hemophilia | CDC [Internet]. Centers for Disease Control and Prevention. 2021 [cited 18 April 2021]. Available from: https://www.cdc.gov/ncbddd/hemophilia/treatment.html

34. TH A N K Y OU!

35. S o … WHY IS IT CALLED THE ROYAL DI S EA S E?!!?

36. History Why the Royal disease? ■ This is because Queen Victoria, Queen of England from 1837 to 1901, was a carrier. Most likely a spontaneous mutation since the duke of Kent (her father) was not affected and her mother did not have any affected children from the previous marriage. Her eighth child, Leopold, had hemophilia and suffered from frequent hemorrhages. These were reported in the British Medical Journal in 1868. Leopold died of a brain hemorrhage at the age of 31, but not before he had children. His daughter, Alice, was a carrier and her son, Viscount Trematon, also died of a brain hemorrhage in 1928. The British family descends from Victoria’s first child Edward who was not affected. Hence this house is disease free. ■ ■ ■ ■

37. History Why the Royal disease? ■ Beatrice, Victoria’s youngest child had two hemophilic sons and a daughter- Victoria Eugene that was a carrier She introduced the hemophilia gene into the Spanish royal family by marrying king Alfonso XIII. By this time, Queen Victoria’s blood was recognized as “defective” and the king may have been warned about Eugene’s carrier state. However, Royalty was more important than X chromosomes. ■ ■

38. History Why the Royal disease? ■ Alexandra, Queen Victoria's granddaughter, married Nicholas, the Tsar of Russia in the early 1900's. Alexandra, the Tsarina, was a carrier of hemophilia and her first son, the Tsarevich Alexei, was an hemophiliac The monk Rasputin gained great influence in the Russian court, partly because he was the only one able to help the young Tsarevich. He used hypnosis to relieve Alexei's pain. It is speculated that the illness of the heir to the throne, the strain it placed on the Royal family, and the influence of the corrupt and alcoholic monk Rasputin were all factors leading to the Russian Revolution of 1917. ■ ■ ■