Bleeding Disorders

Question 1

What causes haemorrhagic diathesis?

Answer 1

Any quantitative or qualitative abnormality or inhibition of function of:

• Platelets
• vWF
• Coagulation factors

Question 2

What should be established from a bleeding history?

Answer 2

• Has the patient actually got a bleeding disorder?
• How severe is the disorder?
• Pattern of Bleeding?
• Congenital or Acquired?
• Mode of inheritance?

Question 3

What will somebody with a history of bleeding present with?

Answer 3

• Bruising
• Epistaxis
• Post-surgical bleeding (teeth out? tonsillectomy? circumcision? appendectomy?)
• Menorrhagia
• Post-partum haemorrhage (mild bleeding disorders don’t often present this way)
• Post-trauma

Question 4

How do you establish the severity of bleeding?

Answer 4

How appropriate is the bleeding?

• Amount lost compared to injury
• Bleeding with no provocation

Question 5

What is platelet type bleeding?

Answer 5

• Mucosal
• Epistaxis
• Purpura
• Menorrhagia
• GI

Question 6

What is coagulation factor type bleeding?

Answer 6

• Articular
• Muscle haematoma
• CNS

Question 7

How do you determine whether a disorder is congenital or acquired?

Answer 7

• Previous episodes of bleeding (lack of post surgical bleeding on prior procedures suggests acquired)
• Age at first event (between 6 months and 2 years for severe haemophilia A)

Question 8

What type of inheritance does haemophilia have?

Answer 8

X-linked

Question 9

What is the difference in phenotype between haemophilia A and B?

Answer 9

No difference, they have identical phenotypes

Question 10

What is the prevalence of haemophilia?

Answer 10

• A 1 in 10,000
• B 1 in 60,000

Question 11

What does the severity of bleeding in haemophilia depend on?

Answer 11

Severity of bleeding depends on the residual coagulation factor activity

• <1% severe
• 1-5% moderate
• 5-30% mild

Question 12

What are the clinical features of haemophilia?

Answer 12

• Haemarthrosis (ankle, knee, weight bearing joints, hinge joints worse effected)
• Muscle haematoma (iliopsoas tricky to manage)
• CNS bleeding
• Retroperitoneal bleeding
• Post surgical bleeding

Question 13

What are the clinical complications of haemophilia?

Answer 13

• Synovitis
• Chronic Haemophilic Arthropathy
• Neurovascular compression (compartment syndromes)
• Other sequelae of bleeding (Stroke)

Question 14

How is a diagnosis of haemophilia made?

Answer 14

• Clinical
• Prolonged APTT
• Normal PT
• Reduced FVIII or FIX
• Genetic analysis

Question 15

How is bleeding diathesis of haemophilia treated?

Answer 15

• Coagulation factor replacement FVIII/IX
• Now almost entirely recombinant products (not from humans)
• DDAVP
• Tranexamic Acid
• Emphasis on prophylaxis in severe haemophilia
• Gene therapy?

Question 16

How is haemarthrosis treated?

Answer 16

• Splints
• Physiotherapy
• Analgesia
• Synovectomy
• Joint replacment

Question 17

What are the complications associated with haemophilia treatment?

Answer 17

• Viral infection
  
  • HIV
  • HBV, HCV
• Inhibitors
  
  • Anti FVIII Ab
  • Rare in FIX
  • tolerance induction required
• DDAVP (don’t give to young children or those with MI risk factors)
  
  • MI
  • Hyponatraemia (in babies)

Question 18

What is the prevalence of von Willebrand disease?

Answer 18

Common, 1 in 200

Question 19

What is the inheritance of von Willebrand disease?

Answer 19

Autosomal

Question 20

How does von Willebrand disease present?

Answer 20

• Platelet type bleeding (mucosal)
• Variable severity

Question 21

What is von Willebrand disease?

Answer 21

Quantitative and qualitative abnormalities of vWF

Question 22

What are the different types of von Willebrand disease?

Answer 22

• Type 1 quantitative deficienc
• Type 2 (A,B,M,N) qualitative deficency determined by the site of mutation in relation to vWF function
• Type 3 severe (complete) deficiency

Question 23

What is the treatment for von Willebrand disease?

Answer 23

• vWF concentrate or DDAVP
• Tranexamic Acid
• Topical applications
• OCP etc

Question 24

Give examples of acquired bleeding disorders.

Answer 24

• Thrombocytopenia
• Liver failure
• Renal failure
• DIC
• Drugs - Warfarin, Heparin, Aspirin, Clopidogrel, Rivaroxaban, Apixaban, Dabigatran, Bivalirudin

Question 25

Thrombocytopenia

Answer 25

Abnormally low levels of platelets

Question 26

What can cause thrombocytopenia?

Answer 26

• Decreased production
  
  • Marrow failure
  • Aplasia
  • Infiltration
• Increased consumption
  
  • ITP (Immune thrombocytopenic purpura)
  • Non immune DIC
  • Hypersplenism

Question 27

How does thrombocytopenia present clinically?

Answer 27

• Petechia (look at ankles)
• Ecchymosis
• Mucosal Bleeding
• Rare CNS bleeding

Question 28

What is immune thrombocytopenic purpura (ITP)?

Answer 28

Immune thrombocytopenic purpura (ITP) is a bleeding disorder in which the immune system destroys platelets, which are necessary for normal blood clotting.

Question 29

What is ITP (immune thrombocytopenic purpura) associated with?

Answer 29

• Infection esp, EBC, HIV
• Collagenosis
• Lymphoma
• Drug induced

Question 30

How is ITP managed?

Answer 30

• Steroids
• IV IgG
• Splenectomy
• Thrombopoietin analogues (eltrombopag and romiplostim)

Question 31

How are blood disorders caused by liver failure treated?

Answer 31

• Replacement FFP
• Vitamin K

Question 32

What factors are deficient in liver failure?

Answer 32

II, VII, IX, X (vitamin K dependent)

Question 33

What results would be seen in liver failure?

Answer 33

• Prolonged PT, APTT and reduced fibrinogen

Question 34

What does most bleeding in liver failure occur as a result of?

Answer 34

Structural lesions including varices

Question 35

What are the features of haemorrhagic disease of the new-born?

Answer 35

• Immature Coagulation Systems
• Vitamin K deficient diet (esp Breast fed)
• Fatal and incapacitating haemorrhage

Question 36

How is haemorrhagic disease of the new born prevented?

Answer 36

Completely preventable by administration of vitamin K at birth (I.M vs P.O)