Bleeding disorders

Question 1

In normal haemostasis what is the function of the vessel wall?

Answer 1

• Maintain “intactness”
• Encourage blood flow

Question 2

What is the primary normal haemostatic response?

Answer 2

• Platelet Plug Formation, Platelets, vWF, Wall

Question 3

What is the secondary haemostatic response?

Answer 3

• Secondary Fibrin Plug Formation

Question 4

What is haemorrhagic diathesis?

Answer 4

Unusual susceptibility to bleeding

Question 5

What is usually the cause of haemorrhagic diathesis?

Answer 5

Any quantitative or qualitative abnormality

Inhibition of function

• Platelets
• vWF
• Coagulation factors

Question 6

What are the key points for bleeding history?

Answer 6

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

Question 7

What is included in the history of bleeding?

Answer 7

• Bruising
• Epistaxis
  
  • (The above two are less relevent)
• Post-surgical bleeding
  
  • Dental Surgery
  • Circumcision
  • Tonsillectomy
  • Appendicectomy (if answer is no to any post surgical then unlikely to have a bleeding disorder
• Menorrhagia
• Post-partum haemorrhage
• Post-trauma

Question 8

What is the relevance of spontaneity of bleeding?

Answer 8

• Unprovoked bleeding is completely pathological
• Easily provoked bleeding needs investigated

Question 9

Pattern of bleeding

How can we tell if it’s a platelet problem?

Coagulation factor problem?

Answer 9

• Platelet type
  
  • Mucosal
  • Epistaxis – recurrent and doesn’t stop
  • Purpura – red/purple discoloured spots
  • Menorrhagia
  • GI
• Coagulation Factor Articular – bleeding into joints (severe haemophilia)
  
  • Muscle Haematoma
  • CNS

Question 10

How can we tell if it is petichia?

Answer 10

Press them and will not blanch

Question 11

Which joints are worse for bleeding disorders?

Answer 11

• hinge joints

Question 12

What are characteristics of Intracranial Haemorrhage in Haemophilia?

Answer 12

• Headache, focal signs, often death – massive haematoma, oedema, poor prognosis

Question 13

How can we tell if a bleeding disorder is congenital or acquired?

Answer 13

• If we think it is a new bleeding disorder then that must have been acquired.
• If had previous episodes then likely to be congenital
  
  • Age at first event
  • Previous surgical challenges
  • Associated History

Question 14

What are other characteristics that point to a hereditary disorder?

Answer 14

• Family members with similar history
• Sex

Question 15

Please see image as example of x linked disorder:

Answer 15

Question 16

Please see image as example of autosomal dominant:

Answer 16

Question 17

What are the genetic and general characteristics of haemophilia A and B?

Answer 17

• X-linked
• Identical phenotypes
• 1 in 10,000 and 1 in 60,000
• Severity of bleeding depends on the residual coagulation factor activity
• <1% Severe – bleeds without provication, coagulation factors of less than 1 %
• 1-5% Moderate
• 5-30% Mild

Question 18

What are the haemophilia clinical features?

Answer 18

• Haemarthrosis (bleeding into joints)
• Muscle haematoma
• CNS bleeding
• Retroperitoneal bleeding
• Post surgical bleeding – preventable

Question 19

Which age group suffer from more severe sinovitis?

Answer 19

• Old men have more swollen sinovitis compared with young men

Question 20

What are the clinical complications of haemophilia?

Answer 20

• Synovitis
• Chronic Haemophilic Arthropathy
• Neurovascular compression (compartment syndromes)
• Other sequelae of bleeding (Stroke)
• Patients often need joint replacement

Question 21

Dx of haemophilia?

Answer 21

• Clinical
  
  • Present within 6 months and 2 years: kid stops walking.
  • Do not consider inappropriate trauma without exploring bleeding disorder
  • Present with joint swelling
• Prolonged APTT
  
  • Normal PT
  • Reduced FVIII or FIX
• Genetic analysis

Question 22

What is the treatment of haemophilia?

Answer 22

• Coagulation factor replacement FVIII/IX
• Now almost entirely recombinant products
• DDAVP
• Tranexamic Acid
• Emphasis on prophylaxis in severe haemophilia
  
  • given factor 8 and 9, aiming to keep the trough level high enough so that bois do not have a reduced factor level, so can expect them to have zero bleeds.

Question 23

Other treatments for haemophilia?

Answer 23

• Splints
• Physiotherapy
• Analgesia
• Synovectomy
• Joint replacement

Question 24

What are complications of treatment of haemophilia?

Answer 24

• Viral infection
  
  • HIV
  • HBV, HCV,
  • Others/ vCJD?
• Inhibitors Anti FVIII Ab
  
  • Rare in FIX (because there are fewer null mutations)
• DDAVP (releases stored factor 8): MI
  
  • Hyponatraemia(babies)

Question 25

What are the genetic and general characteristics of von Willebrand disease?

Answer 25

* Common (1 in 200) * Variable severity * Autosomal * Platelet Type bleeding (mucosal) * Quantitative and qualitative abnormalities of vWF

Question 26

How do we treat vWB disease?

Answer 26

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

Question 27

What are some of the common acquired bleeding disorders?

Answer 27

* Thrombocytopenia * Liver failure * Renal failure * DIC * **Drugs** Warfarin, Heparin, Aspirin, Clopidogrel, Rivaroxaban, Apixaban, Dabigatran, Bivalirudin ……..

Question 28

What is thrombocytopenia?

Answer 28

condition characterized by abnormally low levels of thrombocytes, also known as platelets, in the blood Not making enough platelets or you are but you are breaking them down. * Decreased production: marrow failure, aplasia, infiltration * Increased consumption: Immune ITP, Non immune DIC, hypersplenism

Question 29

What are the clinical signs of thrombocytopenia?

Answer 29

* Petechia * Ecchymosis * Mucosal Bleeding * Rare CNS bleeding

Question 30

What is ITP?

Answer 30

Immune thrombocytopenic purpura ## Footnote Associated with: infection, lymphoma, drug induced Treat? Steroids, IV IG, Splenectomy, Thrombopoietin analogues

Question 31

What can we do in liver failure?

Answer 31

* Replacement FFP * Vitamin K