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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
Evaluation of the Patient
* History
* Physical Examination
* Laboratory Evaluation
* Genetic screening test
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
History
 Site of Bleeding
- Purpura, epistaxis
- Bleeding into muscle and joint
- Recurrent bleeds at single site
History
 Are you a bleeder?
–surgical challenges
–accidents & injuries
–dental extractions
–Easy bruising
History
 Does it sound genetic?
• Duration of bleeding history
• family history
–examine pedigree
–determine inheritance
History
- Liver disease
- Renal disease
- Malignancies
- Drug therapy
- Poor nutrition & pre-maturity
(Vitamin K or C)
 Medical History
• If the answers are negative,
• no evaluation required.
• But if the answers are positive,
• proceed with
• physical examination and laboratory tests
Physical examination
 Ecchymoses, hematomas, petechiae etc.
 Liver disease (jaundice),
Splenomegaly,
Signs of anemia
Joint & skin laxity (Ehlers-Danlos syndrome),
Telangiectasia (hereditary hemorrhagic
telangiectasia),
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)
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.
2nd
part …
The full blood count
RBC Count
Hb
PCV
Erythrocyte Indices (MCV, MCH, MCHC)
TC , DC WBC
 Peripheral blood film
 Platelet count
Bleeding time
BT , Platelet count ,
Thrombocytopenia
Quantitative disorder of Platelet
possibly,
Idiopathic thrombocytopenic purpura
Bleeding time
if, BT , platelet count normal,
Thrombasthenia
Qualitative disorder of Platelet
Quick Review
aPTT PT
T T
aPTT
aPTT ---
PT, TT, Platelet
Count-
all normal
* Factor deficiency
(factor VIII,IX,XI)
* vWD
* Inhibitors
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
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
PT-
aPTT, TT, PC –
normal
* Factor VII deficiency
early liver disease,
early vitamin K deficiency
* Oral anticoagulant therapy
warfarin therapy
PT
Both aPTT & PT
aPTT, PT – both
Platelet count – normal
Vit-K deficiencfy
Liver disease
Warfarin
Heparin
aPTT, PT, TT all
aPTT, PT, TT all
PBF : Red cell
fragments
platelet count
** DIC
Only TT
aPTT, PT – normal
TT –
Heparin therapy excess
Dysfibrinogenemia
Afibrinogenemia
• When coagulation screening tests are
normal but there is bleeding ,
suggests
Abnormality of,
Vasculature and Integument
Genetic Screening Test
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.
Evaluation of the patient
Thank You
For Your Patience Attention

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Investigations for childhood bleeding disorder

  • 1.
  • 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.
  • 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
  • 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