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Investigations for childhood bleeding disorder
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Investigations for childhood bleeding disorder


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this is jst a little effort to find a easy strategy for diagnosis of childhood bleeding disorder

this is jst a little effort to find a easy strategy for diagnosis of childhood bleeding disorder

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  • 1. Approach to the patient presenting with symptoms of bleeding disorder Contents of History , Physical examination and lab investigation Step by step investigation procedure Discussion topics
  • 2. Evaluation of the Patient * History * Physical Examination * Laboratory Evaluation * Genetic screening test
  • 3. For whom the History is Important? 1) Asymptomatic pt. who will undergo a surgical/invasive procedure 2) Individuals presenting with a personal and/or family H/O of bleeding disorder, abnormal laboratory tests or concern about bleeding symptoms
  • 4. History  Site of Bleeding - Purpura, epistaxis - Bleeding into muscle and joint - Recurrent bleeds at single site
  • 5. History  Are you a bleeder? –surgical challenges –accidents & injuries –dental extractions –Easy bruising
  • 6. History  Does it sound genetic? • Duration of bleeding history • family history –examine pedigree –determine inheritance
  • 7. History - Liver disease - Renal disease - Malignancies - Drug therapy - Poor nutrition & pre-maturity (Vitamin K or C)  Medical History
  • 8. • If the answers are negative, • no evaluation required. • But if the answers are positive, • proceed with • physical examination and laboratory tests
  • 9. Physical examination  Ecchymoses, hematomas, petechiae etc.  Liver disease (jaundice), Splenomegaly, Signs of anemia Joint & skin laxity (Ehlers-Danlos syndrome), Telangiectasia (hereditary hemorrhagic telangiectasia),
  • 10. Laboratory Assessment • Guided by history • screeninG tests - Full blood count - Blood film examination – Platelet count (150-400 x 109 /L) – Bleeding time (< 8 min) – aPTT (26-36 sec) – PT (09-12 sec) – Fibrinogen conc. (1.5-4 g/L) – Thrombin time (11-15 sec)
  • 11. Specific Laboratory Tests • Mixing studies – Normal plasma & patient's plasma mixed by 1:1 – incubated 2 hours at 37o C – perform clotting assay as usual If, Corrected – Factor deficiency , But if, Uncorrected – Circulating anticoagulant present.
  • 12. 2nd part …
  • 13. The full blood count RBC Count Hb PCV Erythrocyte Indices (MCV, MCH, MCHC) TC , DC WBC  Peripheral blood film  Platelet count
  • 14. Bleeding time BT , Platelet count , Thrombocytopenia Quantitative disorder of Platelet possibly, Idiopathic thrombocytopenic purpura
  • 15. Bleeding time if, BT , platelet count normal, Thrombasthenia Qualitative disorder of Platelet
  • 16. Quick Review aPTT PT T T
  • 17. aPTT aPTT --- PT, TT, Platelet Count- all normal * Factor deficiency (factor VIII,IX,XI) * vWD * Inhibitors
  • 18. aPTT  Prolong aPTT, Haemophilia (A or B) von Willebrand disease (vWD)  To differentiate between these 2, we can also do BT. As, Haemophilia : BT normal vWD : BT
  • 19. Confirmation of vWD H/O mucocutaneous bleeding Quantitative assay for vWF antigen Determination of vWF structure Testing for vWF activity (ristocetin cofactor) Differentiating Haemophilia A or B Factor assay: Factor VIII & factor IX
  • 20. PT- aPTT, TT, PC – normal * Factor VII deficiency early liver disease, early vitamin K deficiency * Oral anticoagulant therapy warfarin therapy PT
  • 21. Both aPTT & PT aPTT, PT – both Platelet count – normal Vit-K deficiencfy Liver disease Warfarin Heparin
  • 22. aPTT, PT, TT all aPTT, PT, TT all PBF : Red cell fragments platelet count ** DIC
  • 23. Only TT aPTT, PT – normal TT – Heparin therapy excess Dysfibrinogenemia Afibrinogenemia
  • 24. • When coagulation screening tests are normal but there is bleeding , suggests Abnormality of, Vasculature and Integument
  • 25. Genetic Screening Test
  • 26. Take Home Message  The key to diagnosis is the history, physical examination combined with laboratory investigation & genetic screening test.  A doctor may order PT, aPTT, full blood count to see whether or not the patient is anemic, how many platelets he has, and to evaluate which pathways may be involved.
  • 27. Evaluation of the patient Thank You For Your Patience Attention