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Hemophilia
- 2. hemo=blood stasis=stable prevention of blood loss Steps of hemostasis: 1. Vasoconstriction(TXA2,LOCAL MYOGENIC SPASM,NERVOUS REFLEX) 2. Temporary platelet plug(primary hemostasis) 3. Coagulation(secondry hemostasis) 4. Fibrinolysis(dissolves the clot,restores function) 5. Regeneration(repair)
- 3. Endotelial damage Exposed collagen in subendotheli um(WVF) adhesion of platlate to collagen fibers(GPIa ,GPIb) ADP and TXA2 and 5- HT aggregation of platlet
- 5. Exposed Tissue factor VIIVIIa X Xa Va II IIa prothrombin thrombin I Ia fibrinogen fibrin XIIIXIIIa Stable clot platelet XII XI IX XIIa XIa IXa VIIIa
- 6. Provides assessment of platelet count and function Normal value:2-8 min Bleeding time
- 7. Measures effectiveness of the extrinsic and common pathway Normal value:11-16 secs Prolonged: Extrinsic pathway factor deficiency Warfarin vit k def liver dx Consumption(DIC) Oral anticoagulant therapy Prothrombin time(PT)
- 8. International normalize ratio Normal:0.8-1.2 Elevated: Anticoagulants Chronic liver disease Vitamin K deficiency Increase consumption(DIC,sepsis) INR
- 9. Measures effectiveness of the intrinsic pathway and common pathway Normal value:25-40 sec APTT prolongs: Intrinsic pathway factor defficiency Von willebrand disease Hemophilia Antiphospholipid antibodies Sepsis/DIC Activated partial thromboplastin time (aPTT)
- 11. Time for thrombin to convert fibrinogen to fibrin A measure of fibrinolytic pathway Normal pathway:9-13 secs TT prolongs: Hypo afibrinogeneamia Dysfibrinogenaemia Non functionated heparin Chronic liver dx Thrombin time
- 12. Clotting tests can be abnormal due to either a clotting factor deficiency or an inhibitor of normal factor activity(e.g. antibody) Mix patient’s plasma with control plasma Check pt and ptt Two times after mixing study (immediate and 30 min to 2h after being in Incubator in 37degree) Mixing study
- 13. pt inhibitors Factor V inhibitor Factor def FI,FII,FV, FVII,FX ptt inhibitors IX inhibitor Antiphospolipid sx VIII Factor def VIII,IX,XI,XII correct Not correctNot correct correct Immediately correct but after not correct After incubator
- 14. Hemophilia Love to bleed Hard to stop bleeding Hemostasis is impaired
- 15. Mutated gene in hemophilia A is called f8 and in hemophilia B is called f9. They are both in chromosome X So this disease is x-linked recessive
- 16. • Inherited hemorrhagic disorder caused by deficiency of factor VIII or factor IX. • X linked recessive inheritance hence affect males exclusively. • Incidence in hemophilia A is 1 in 5000 male alive births. • Incidence in hemophilia B is 1 in 30000 male alive births. • Female who carry a single mutated gene, are generally asymptomatic.
- 17. Hemophilia is often called the disease of kings because the most famous case was Czar of Russia(alexei nikolaevich) and it was carried by many members of Europe’s royal family.Queen Victoria of England was a carrier of hemophilia.
- 18. Hemophilia B also known as Christmas disease because The first patient having this condition was named Steven Christmas.
- 19. Signs and symptoms of hemophilia A and B are nearly clinically identical. Severity of symptoms depends on severity of mutation which determined the activity of the factors. Signs and symptoms
- 20. Easy bruising(ecchymosis) Hematomas deep in muscle Prolonged bleeding after cut or surgery like circumcision Oozing after tooth extraction GI bleeding Hematuria Severe nose bleed Hemarthrosis Stroke in brain Increase of ICP Prolonged bleeding after umbilical cord is cut
- 21. General: weakness, orthostasis, tachypnea, tachycardia Musculoskeletal: tingling, pain, stiffness CNS: headache, vomiting, neck rigidity, lethargy GI: melena, hematemesis, abd pain Genitourinary: hematuria, post circumcision bleeding
- 22. • Lab tests Platelet (normal) Prothrombin time (normal) Tests Extrinsic and Common pathway(VII,X,V,II,I) Partial thromboplastic time (increase) Tests Intrinsic and Common pathway(XII,XI,IX,VIII,X,V,II,I) Factor assay • Confirmation Tests for specific factor activities and mutation testing. Diagnosis
- 23. Treatment of hemophilia may involve the following: management of hemostasis Management of bleeding episodes Use factor replacement products and adjuvant medication Treatment of patient with factor inhibitors Treatment and rehabilitation of patient with hemophilia synovitis
- 24. Injections of missing or non functioning clotting factor. high purity factors(factor concentration) Recombinant human factors FFP cryoprecipitate just for hemophilia A Desmopressin(DDAVP) can be helpful for Hemophilia A. Desmopressin stimulate VWF which stabilized factor VIII. Treatment
- 26. Mild hemorrhage(e.g. gingival bleeding,epistaxis,early hemarthrosis) maintain an FVIII level of 30%.( 15U/KG/dose 3 times a day for 2- 3days) Major hemorrhages:maintain anFVIII level of at least 50%(50U/kg 2-3 times a day for 1 weak.) Dose in FVIII IU=(wt per kg)(desired FVIII increase)(0.5 IU/kg per IU/Dl)
- 28. • Factor injection 3 times a weak as a prophylactic can be done in severe hemophilia. • If the patient have severe deficiency ,supplemental factors can be seen as a foreign by the immune system which can produce antibody (inhibitors ).Inhibitors diminish effectiveness overtime or may cause anaphylaxis.