Investigations for childhood bleeding disorder

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 countRBC CountHb PCVErythrocyte 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* Heparin therapy

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 bleedingQuantitative assay for vWF antigenDetermination of vWF structureTesting for vWF activity (ristocetin

cofactor)

Differentiating Haemophilia A or BFactor 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 deficiencfyLiver diseaseWarfarinHeparin

aPTT, PT, TT all

aPTT, PT, TT all PBF : Red cell fragments platelet count

** DIC

Only TT

aPTT, PT – normal TT –

Heparin therapy excessDysfibrinogenemia 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

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