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Clinical Pathology > Heritable bleeding disorders > Flashcards

Heritable bleeding disorders Flashcards

1
Q

What is the primary haemostatic pathway?

A

Aggregation of platelets.

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2
Q

What is the secondary haemostatic pathway?

A

Coagulation and formation of fibrin clot

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3
Q

What are alpha granules?

A

Found within platelets. Contain adhesive proteins, coagulation factors, fibrinolytic factors, growth factors, regulators of angiogenesis etc

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4
Q

What are the primary agonists of platelets?

A
  • ADP
  • thrombin
  • TXA2
  • epinephrine
  • serotonin
  • PAF
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5
Q

What is the mechanism of action of aspirin?

A

Inhibits the action of COX enxymes, which inhibits the production of thromboxane (facilitates platelet aggregation) and other pro-inflammatory molecules.

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6
Q

Which part of the clotting pathway is tested by the activated partial thromboplastin time test?

A

Intrinsic - (12)XIIa, (11)XIa, (9)IXa & (8)VIII

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7
Q

Which part of the clotting pathway is tested by the prothrombin time test?

A

Extrinsic (7)VIIa & TF

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8
Q

Give examples of procoagulant factors?

A
  • Platelets

- Clotting factors

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9
Q

Give examples of anti-coagulant factors?

A
  • Protein C
  • Protein S
  • Anti-thrombin III
  • Fribrinolytic system
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10
Q

What is the main difference between congenital and acquired bleeding disorders?

A
  • CONGENITAL - Usually single defect

- ACQUIRED - Often multiple defects

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11
Q

What is the focus of the signs and symptoms in platelet/vessel wall defects?

A

Mucosal and skin

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12
Q

What is the focus of signs and symptoms in coagulation defects?

A

Deep muscular and joint bleeds. Bleeding following trauma.

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13
Q

What sign does all platelet/vessel wall defects give rise to?

A

Prolonged bleeding time

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14
Q

Why do platelet/vessel wall defects give rise to prolonged bleeding times?

A
  • Reduced number of platelets
  • Abnormal platelet function
  • Abnormal vessel wall
  • Abnormal interaction between platelets and vessel wall e.g. Von Willebrand disease
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15
Q

What signs/symptoms are present in vascular/platelet defects?

A
  • Spontaneous petechiae and superficial bruises

- Bleeding immediate; prolonged and non-recurrent

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16
Q

What signs/symptoms are present in coagulation defects?

A
  • Deep, spreading haematoma
  • Haemarthrosis
  • Retroperitoneal bleeding
  • Bleeding prolonged and often recurrent
17
Q

What is Von Willibrand Disease?

A

A qualitative or quantitative deficiency of von Willebrand factor (vWF), a multimeric protein that is required for platelet adhesion.

18
Q

What is the function of von Willibrand Factor?

A

Binds to various glycoproteins, mainly factor (8)VIII and is important in platelet adhesion.

19
Q

What are the features of von Willibrand Disease?

A
  • Most common heritable bleeding disorder
  • Mainly autosomal dominant inheritance
  • Associated with defective primary haemostasis
  • Variable reduction in Factor (8)VIII levels
  • Mucocutaneous bleeding including menorrhagia
  • Postoperative and post partum bleeding
  • Variable penetrance for mild types
  • Diagnosis of mild vWD difficult due to confounding factors
  • Blood group O: lower levels of vWF
20
Q

What are the treatment options for von Willibrand Disease?

A
  • Antifibrinolytics: tranexamic acid
  • DDAVP (type 1 vWD)
  • Factor concentrates containing vWD (plasma derived)
  • Vaccination against hepatitis
  • COCP for menorrhagia
21
Q

What is the mode of inheritance for factor (12)XII deficiency and how common is it?

A

Autosomal recessive - rare

22
Q

What is the mode of inheritance for factor (9)IX haemophilia B and how common is it?

A

Sex-linked recessive - uncommon

23
Q

What is the mode of inheritance for factor (8)VIII haemophilia A and how common is it?

A

Sex-linked recessive - uncommon

24
Q

What is the mode of inheritance for von Willibrand Disease?

A

Autosomal dominant - common

25
Q

What is the mode of inheritance for factor (7)VII deficiency and how common is it?

A

Autosomal recessive - very rare

26
Q

What is the mode of inheritance of factor (10)X, (5)V, (2)II, (1)I & (13)XIII deficiency and how common is it?

A

Autosomal recessive - very rare

27
Q

What percentage of cases of haemophilia are new mutations?

A

30%

28
Q

What are the degrees of severity of haemophilia?

A
  • Normal factor (8)VIII or (9)IX level = 50% - 150%
  • Mild Haemophilia
    • Factor (8)VIII or (9)IX level = 6% - 50%
  • Moderate Haemophilia
    • Factor (8)VIII or (9)IX level = 1% - 5%
  • Severe Haemophilia
    • Factor (8)VIII or (9)IX level = ?
29
Q

What types of bleed my occur in haemophilia?

A
  • Spontaneous/Post traumatic
  • Joint Bleeding = Haemarthrosis
  • Muscle Haemorrhage
  • Soft Tissue
  • Life Threatening Bleeding
30
Q

What are the treatment options for haemophilia?

A
  • Replacement of missing clotting protein:- On demand or Prophylaxis
  • DDAVP (Mild/Moderate Haemophilia A)
  • Factor Concentrates: Recombinant are products of choice
  • Antifibrinolytic Agents
  • Vaccination vs hepatitis A and B
  • Supportive Measures i.e. Icing, Immobilisation, Rest
31
Q

What is inhibitor development?

A

Development of an antibody to the exogenous factor being used to treat haemophilia.

32
Q

How frequent is inhibitor development?

A

25% of haemophilia A

More common in A than B

33
Q

What are the consequences of inhibitor development?

A
  • Result in poor recovery and/or shortened half life of factor replacement therapy.
  • Poor clinical response to treatment
  • Specialist management of bleeds
34
Q

What tests should be performed in the case of a suspected bleeding disorder?

A
  • FBC andd blood film

- Coagulation and Clauss fibrinogen

35
Q

What additional test would you perform in the case of a suspected acquired disorder?

A

D-dimer

Clinical Pathology (65 decks)

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