approach to a child with bleeding disorder

1. Approach to a child with
bleeding disorder
DR NEHAL SHAH
PGR peads ii
Services hospital lahore

2. Normal hemostasis
is to arrest bleeding by formation of a thrombus
Functions
• To maintain the blood in fluid state
• To prevent clots in intact vessels
• To arrest bleeding in injured vessels
• Components
Blood vessels
Platelets
Plasma coagulation factors
Fibrinolytic system

3. Bleeding or hemorrhaging, is the escape of blood from the circulatory
system.
Bleeding can occur
• – internally
• – externally
bleeding is due to a functional impairment of the normal hemostatic
process.

4. INJURY
VESSEL WALL+PLATELET
FORMATION OF PLT PLUG
ACTIVATION OF PLASMA COAGULATION FACTORS
FORMATION OF STABLE FIBRIN CLOT
DISSOLUTION OF FIBRIN CLOT BY FIBRINOLYSIS

5. Bleeding disorders
Vessel wall
disorder
Platelet disorder
Coagulation factor
defect

6. Vessel wall disorder
Congenital
HEREDITARY HEMORRHAGIC TELENGIECTASIA
EHLERS DANLOS SYNDROME
Acquired
SENILE PURPURA
VASCULAR PURPURA

7. Platelet disorder
quantitativequalitative

8. platelet disorders
Qualitative
• Glanzman Thrombasthenia
• Bernard soulier syndrome
• Quantitative
THROMBOCYTOPENIA

9. Coagulation factor abnormalities
Hereditary
• HEMOPHILIA A(factor VIII deficiency)
• HEMOPHILIA B(factor IX deficiency)
• von WILLEBRAND DISEASE
• DISORDERS OF FIBRINOGEN

11. INHERITED DISORDERS
• Early age of presentation
• Family history positive
• More severe
• Bleeding is the dominant feature
• Single factor defect
ACQUIRED DISORDERS
• Later age of presentation
• Family history usually negative
• Less severe
• Clinical picture is dominated by
the
• underlying disorder e g. DIC
• Multiple hemostatic defect

12. Approach includes:
• History
• Clinical Examination
• Laboratory Findings

13. History
Site of bleeding,
The severity and duration of hemorrhage, and
The age at symptom onset.
• –Spontaneous or after trauma
• – Previous personal or family history of similar problems?
• – Recent transfusion

14. • A history of anemia and/or previous treatment with iron
• Joint pain, swelling or limitation of movement
• Bleeding from umbilical stump
• Previous surgery or significant dental procedures,
• was there any increased bleeding?
• Delayed or slow healing of superficial injuries

15. • Menstrual history (in post pubertal females)
• Medications ( NSAIDs, anticonvulsant , antihistamin, or herbal
medications cause thrombocytopenia
• Nutritional Hx to assess the likelihood of vt k & C deficiency

16. FAMILY HISTORY
consanguinity >> autosomal recessive bleeding disorder
Known bleeding disorder or other heritable medical disorder
that may predispose to bruising (eg, Ehlers-Danlos syndrome).
• Male relatives affected (Hemophilia, X-linked Recessive trait)
• Female relatives - Menstrual and Obstetric Hx
• males and females affected >>an autosomal disorder such as
von Willebrand factor deficiency
• autosomal dominant traits such as hereditary hemorrhagic telangiectasia

17. Epistaxis-symptom of platelet disorders & vWD
Gingival hemorrhage- platelet disorders & vWD
Oral mucous membrane bleeding- severe thrombocytopenia
Skin hemorrhage ( petechiae and ecchymoses)-
common manifestations of hemostatic & nonhemostatic disorders
Hemarthroses- hallmark abnormality in the hemophilia’s, severe factor
VII deficiency

18. • If child bleeds from injury ,does the bleeding stop and resume(DIC)
• If child bleeds from superficial cut with profuse bleed(platelet
disorder
• If fever and neurological manifestations(Meningococcemia)
• If history of viral prodrome (ITP/HUS)
• If patient taking aspirin , ibuprofen,antibiotics (Drug related purpura)
• If patient is neonate , and mother took phenytoin ( Vit K Deficiency)

19. Examination

20. The examination should determine the presence of :
• petechiae,
• ecchymosis,
• hematomas,
• hemarthroses,
• mucous membrane bleeding.

21. Look for hepatosplenomegaly
Do a rectal exam for evidence of GI bleeding
Look for physical signs and symptoms of diseases related to capillary
fragility:
Lymphadenopathy + hepatosplenomegaly
• Leukemia
• Lymphoma
• Infection

22. • Individuals with disorders of the collagen matrix and vessel wall may
have loose joints and lax skin associated with easy bruising (Ehlers-
Danlos syndrome).
• Deep Bleed (muscle or joints) Individuals with a clotting factor
deficiency of factor VIII or IX (hemophilia A or B)
• Symmetric Purpura on Legs and buttocks( Henoch–schonlein
Purpura)
• Ecchymotic Lesions Extensive and in various stages of revolutions
(Physical Abuse)

23. manifestations in thrombocytopenia
• Petechiae
• Bruises or purpura
• Bleeding from mucous membranes: epistaxis, gingival bleeding
• Acute gastrointestinal bleeding
• Hematuria
• Acute CNS hemorrhage: the rarest consequence of low platelets

24. manifestations in hemophilia
• Bleeding In soft Tissue ,GI ,Hip, elbow , and ankle Joint.
• Spontaneous joint bleeding occur when child begin to walk
• Intracranial hemorrhage uncommon (important
cause of death)
• Petechiae usually do not occur in patients with
hemophilia

25. Investigations

26. Lab investigations
• Full blood count and blood film
• Bleeding time
• Prothrombin time with INR – measure factors II, V,VII, X.
• Activated Partial thromboplastin time measures II, V, VIII, IX, X, XI and
XII.
• Mixing studies
• Thrombin Time
• Quantitative fibrinogen assay
• D-Dimers
• Biochemical Screen for renal and Liver function tests
• Platelet aggregation studies

27. 1st line investigation
• Test for platelets
• Platelet count
• Bleeding Time(BT)
• Test for coagulation factors
• Prothrombin Time(PT)
• Activated Partial Thromboplastin Time(aPTT)
• Thrombin Time(TT)
• Fibrinogen assay

28. Bleeding Time (BT)
Significance
• Assess primary haemostatic defect
• vessel wall or platelet interaction.
• Dependent on adequate functioning of
– Platelets
– Blood Vessels.
Range
4-8 min

29. Interpretation
Causes of prolonged BT
Thrombocytopenia
VWD
Platelet function disorder
Disorder of blood vessels.

30. Prothrombin Time(PT)
Reflects overall activity of the Extrinsic Pathway.
Most sensitive to changes in Factor V,VII,X.
Lesser to Factor I & II.
Normal range
12-15 seconds

31. Interpretation
Causes of prolonged PT
• Deficiency of Factor VII,X,V,II,I
• Vit K deficiency
• Liver disease
Oral anticoagulants

32. Activated Partial Thromboplastin Time (aPTT)
Significance
• Reflects activity of Intrinsic Pathway.
• Sensitive to changes in Factor VIII,IX,XI,XII.
• Also sensitive to heparin & circulating anticoagulants.
• The test measures the clotting time of plasma after the
activation of contact
Normal range
26 to 40 seconds.

33. Causes of prolonged aPTT
• Deficiency of Factor VIII (Haemophilia A).
• Deficiency of Factor IX (Haemophilia B).
• Heparin therapy.
• Circulating anticoagulants.
• Liver disease.

34. Thrombin Time(TT)
Significance
• Asses the final step of coagulation, i.e. conversion of fibrinogen to
• fibrin in presence of thrombin.
• Bypasses Extrinsic & Intrinsic pathway.
Principle
• Thrombin is added to plasma and the clotting time is measured.
• TT is affected by the concentration and reaction
of fibrinogen and by the presence of inhibitory substances.
• Normal range
• • 15–19 sec, Times of 20 s and longer are definitely abnormal

35. Causes of prolonged TT
Disorders of fibrinogen-
• Afibrinogenaemia.
• Hypofibrinogenaemia
• Dysfibrinogenaemia.
Liver disease.
heparin therapy

36. 2nd line investigations
Carried out with each of the patterns of abnormalities in first line tests
• Mixing test.
• Factor VII assay.
• Liver function test.

37. • Mixing test
• – If prolong. PT, PTT, or TT
Normal plasma + patient's plasma, and the PT or PTT is repeated.
Correction of PT or PTT => def. of a clotting factor
(because a 50% level of individual clotting proteins is sufficient to
produce normal PT or PTT)

38. • If the clotting time is not corrected or only partially corrected, an
inhibitor
• – chemical similar to heparin that delays coagulation or
• – an antibody directed against a specific clotting factor.(MC- VIII, IX, or
XI, may be present) or the phospholipids used in clotting tests is
usually present

45. Treament OF bleeding disorders
ITP
Intravenous immunoglobulins
Steroids
Anti D immunoglobulins
platelet transfusion (for life threatening hemorrhage)

46. DIC
• Fresh frozen plasma
• Platelet and packed red blood cell transfusion.

47. Platelet disorders
Platelet transfusion(for life threatening Hemorrhage
HSP
Steroids
Vonwillbrand diseases
Desmopressin acetate (DDAVP

56. Easy bruising- Ehlers-Danlos syndrome
Excessive bleeding in response to razor nicks =platelet disorders or von
Will brand disease.
Hemoptysis- haemostatic disorders in URT.
Hematemesis- haemostatic disorders in upper GI
Hematuria- hemophilia's & haemostatic disorders
Rectal bleeding -in normal-hemorrhoids- von Willebrand disease and
platelet disorders
Melena
Postpartum hemorrhage -DIC
Habitual spontaneous abortions- quantitative or
qualitative abnormality of fibrinogen.