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Inherited bleeding disorder of primary hemostasis

Inherited bleeding disorder of primary hemostasis. Von Willebrand Disease. Most common genetic bleeding d/o Consist of 3 types : Type I (70%-80%) and type III (rare) characterized by partial and virtually complete deficiency of vWF Type II reflect a qualitative defect in vWF function

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Inherited bleeding disorder of primary hemostasis

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  1. Inherited bleeding disorder of primary hemostasis

  2. Von Willebrand Disease • Most common genetic bleeding d/o • Consist of 3 types : • Type I (70%-80%) and type III (rare) characterized by partial and virtually complete deficiency of vWF • Type II reflect a qualitative defect in vWF function • Bleeding time can be normal, difficult to diagnosed. • Diagnosed when these criterias are satisfied : • Positive bleeding history • Reduced level of vWF activity • Positive family history of vWD

  3. vWF concentration influenced by stress, exercise, blood group and race. • Blood type O has 25% reduced in vWF, increase likelihood to get vWD • Blood type AB has 25% increase in vWF, decrease likelihood to get vWD • Option of treatment if there is spontaneous bleeding episodes : • Desmopressin and transfusional therapy with plasma-derived vWF products

  4. Platelet function disorder • Maybe congenital or acquired • Common present with spontaneous mucocutaneous bleeding / bleeding after hemostatic challenge (trauma, surfgery) • Acquired : • Antiepileptic (valproate) & antidepressant → functional impairment of platelet • Antiplatelet (Aspirin) →platelet inhibiton for 5-7days • - systemic d/o ( uremia, Congenital heart dss, liver failure, leukemia ) → lead to platelet function defect • Congenital : • Inherited defect in receptors for platelet adhesion and aggregation • Defect in signaling platelet secretion • Defect in platelet metabolism

  5. Congenital deficiency of coagulation protein

  6. Hemophilia • Hemophilia A → deficiency in FVIII • Hemophilia B → deficiency in FIX • Primarily affect males, females may be symptomatic carrier • Criteria : • Prolonged PTT, normal PT,platelet count and bleeding time • Diagnosed by FVIII and FIX deficieny ( FVIII usually already at ‘adult’ level at birth, FIX low at birth need to monitor 4-6 months to diagnose)

  7. Clinical classification of hemophilia

  8. Treatment : • Episodic or prophylactic infusion of factor concentrates • Severe hemophilia : given prophylactic therapy to prevent chronic complication associated with frequent joint bleeding

  9. Acquired Bleeding Disorder

  10. Acquired vit K deficiency • Suspected in chronically ill children with malabsorption syndromes (cystic fibrosis, biliaryatresia, celiac disease) • Hemorrhagic disease of newborn (HDN), attributed to hepatic immaturity for synthesis of vit K clotting factor • DIC • involves simultaneous activation of coagulation and fibrinolytic system • Prolongations of coagulation screening test, thrombocytopenia, elevated concentration of fibrin degradation product • Associated with children who have acute promyelocytic leukemia

  11. Acquired inhibitors to coagulation proteins • FVIII and FIX rare in children • Acquired vWD reported in children with CHD with right to left shunt due to rapid clearance of large vWF multimer

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