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 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

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

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

Congenital deficiency of coagulation protein

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)

Clinical classification of hemophilia

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

Acquired Bleeding Disorder

Acquired vit K deficiency – Suspected in chronically ill children with malabsorption syndromes (cystic fibrosis, biliary atresia, 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

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