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
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
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.