HEMOpediatrics presentationgmcthPHILIA.pptx

pediatrics hematology

1. HEMOPHILIA

2. INTRODUCTION Hemophilia is a type of hereditary clotting disorder in which there is a deficiency of specific clotting factors associated to each of its different variants. Types of hemophilia: Hemophilia A(Factor VIII) Hemophilia B(Factor IX) Hemophilia C(Factor XI)

3. Genetic Mechanism Hemophilia is an X linked recessive disorder.

4. Genetic Mechanism

5. Demographics According to a study done by World Federation of Hemophilia in 2019, prevalence of hemophilia was estimated to be in 1 in 5000 males and incidence was estimated to be 1 in 1333 live male births. Annual Global Survey 2020 published by World Federation of Hemophilia showed that among the patients reporting of hemophilia, 86.3% were males and only 4.5% were females.

6. Coagulation Cascade and Pathophysiology

7. Clinical Features Cephalhematoma Hemarthroses Calf Hematoma Symptoms commonly include heavy bleeding from minor injuries, spontaneous bleed(hemarthroses, muscle hematoma, hematuria) and bruising.

8. Clinical Features and Factor levels Normal factor VIII and IX concentration level: 0.5-1.5 IU/ml

9. Investigations CBC: Normal APTT: Prolonged PTT: Normal Fibrinogen Test: Normal

10. MANAGEMENT

11. Factor Replacement Therapy It can be provided either in response to a bleeding episode or as a prophylactic treatment. Primary prophylaxis is a strategy for maintaining factor levels at ~1% or higher on a regular basis to prevent bleeds. Dose of factor (Unit/kg) required can be calculated by: Dosage of factor VIII= % desired factor rise X body wt.(kg) X 0.5 Dosage of factor IX= % desired factor rise X body wt.(kg) X 1.4 Alternatives are Cryoprecipitate or fresh frozen plasma(FFP) infusions.

12. Nontransfusion Therapy Emicizumab: It mimcks the activity of factor VIII by bridging factor I X a and factor X. Loading dose: 3mg/kg SC once a week for the first 4 weeks Maintenance dose: 1.5mg/kg SC once a week Desmopressin: It helps to release the vWF stored in endothelial cells and can increase the levels of vWF and factor VIII by 3-4 fold. Dosage: 0.3mcg/kg IV over 20minutes Antifibrinolytics: E-amino caproic acid and tranexamic acid can be given to control local hemostasis.

13. Non Pharmacological Management Counselling for prevention of injury Genetic counselling Physiotherapy to prevent chronic arthropathy Monitoring for development of factor inhibitors

14. References Harrison’s Principles of Internal Medicine, 20th edition Ghai Essential Pediatrics, 8th edition Davidson’s Principles and Practice of Medicine, 24th edition Report on the Annual Global Survey 2020, World Federation of Hemophilia