Investigations for childhood bleeding disorder
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This document discusses the evaluation of patients presenting with symptoms of a bleeding disorder. It involves taking a thorough history, physical examination, and laboratory tests. The history focuses on sites of bleeding, family history of bleeding disorders, medical history, and determining if the condition is genetic. The physical exam checks for bruising, signs of anemia or liver/spleen issues. Screening tests include a full blood count, platelet count, bleeding time, aPTT, PT, and fibrinogen levels. Specific tests can identify factor deficiencies, von Willebrand disease, liver disease, vitamin deficiencies, or the presence of inhibitors. Genetic screening may also be used to diagnose the underlying cause.
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Investigations for childhood bleeding disorder
- 2. 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
- 3. Evaluation of the Patient * History * Physical Examination * Laboratory Evaluation * Genetic screening test
- 4. 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
- 5. History Site of Bleeding - Purpura, epistaxis - Bleeding into muscle and joint - Recurrent bleeds at single site
- 6. History Are you a bleeder? –surgical challenges –accidents & injuries –dental extractions –Easy bruising
- 7. History Does it sound genetic? • Duration of bleeding history • family history –examine pedigree –determine inheritance
- 8. History - Liver disease - Renal disease - Malignancies - Drug therapy - Poor nutrition & pre-maturity (Vitamin K or C) Medical History
- 9. • If the answers are negative, • no evaluation required. • But if the answers are positive, • proceed with • physical examination and laboratory tests
- 10. Physical examination Ecchymoses, hematomas, petechiae etc. Liver disease (jaundice), Splenomegaly, Signs of anemia Joint & skin laxity (Ehlers-Danlos syndrome), Telangiectasia (hereditary hemorrhagic telangiectasia),
- 11. 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)
- 12. 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.
- 13. 2nd part …
- 14. The full blood count RBC Count Hb PCV Erythrocyte Indices (MCV, MCH, MCHC) TC , DC WBC Peripheral blood film Platelet count
- 15. Bleeding time BT , Platelet count , Thrombocytopenia Quantitative disorder of Platelet possibly, Idiopathic thrombocytopenic purpura
- 16. Bleeding time if, BT , platelet count normal, Thrombasthenia Qualitative disorder of Platelet
- 17. Quick Review aPTT PT T T
- 18. aPTT aPTT --- PT, TT, Platelet Count- all normal * Factor deficiency (factor VIII,IX,XI) * vWD * Inhibitors
- 19. 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
- 20. 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
- 21. PT- aPTT, TT, PC – normal * Factor VII deficiency early liver disease, early vitamin K deficiency * Oral anticoagulant therapy warfarin therapy PT
- 22. Both aPTT & PT aPTT, PT – both Platelet count – normal Vit-K deficiencfy Liver disease Warfarin Heparin
- 23. aPTT, PT, TT all aPTT, PT, TT all PBF : Red cell fragments platelet count ** DIC
- 24. Only TT aPTT, PT – normal TT – Heparin therapy excess Dysfibrinogenemia Afibrinogenemia
- 25. • When coagulation screening tests are normal but there is bleeding , suggests Abnormality of, Vasculature and Integument
- 27. 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.
- 28. Evaluation of the patient Thank You For Your Patience Attention