Bleeding disorders

Question 1

What is haemorrhagic diathesis?

Answer 1

Any quantitative or qualitative abnormality in blood resulting in inhibition of function of platelets, vWF or coagulation factors.

Question 2

What are some key things you need to establish about the history of bleeding?

Answer 2

Bruising
Epistaxis
Post- surgical
Menorrhagia
Post-partum haemorrhage
Post-trauma

Question 3

What are the different patterns of bleeding for platelet inhibition?

Answer 3

Muscosal
Epistaxis (nosebleed)
Purpura
Menorrhagia
GI

Question 4

What are the different patterns if bleeding for coagulation factor inhibition?

Answer 4

Articular
Muscle haematoma
CNS

Question 5

What are the genetic features of haemophilia A and B?

Answer 5

x-linked
Identical phenotypes
1 in 10,000 and 1 in 60,000
Severity of bleeding depends on residual coagulation factor activity. 
<1% severe
1-5% moderate
5-30% mild

Question 6

What are the clinical features of haemophilia?

Answer 6

Haemarthrosis
Muscle haematoma
CNS bleeding
Retroperitoneal bleeding
Post surgical bleeding

Question 7

What are the clinical complications of haemophilia?

Answer 7

Synovitis
Chronic haemophilic arthropathy
Neurovascular compression (compartment syndromes)
Other sequelae of bleeding (stroke).

Question 8

How is haemophilia diagnosed?

Answer 8

Clinically.
Prolonged APTT
Normal PT
Reduced Factor 8 or 9
Genetic analysis

Question 9

What is the treatment for haemophilia bleeding diathesis?

Answer 9

Coagulation factor replacement - factor 8/9
Recombinant products
DDAVP
Tranexamic acid
Emphasis on prophylaxis in severe haemophilia.
Gene therapy?

Question 10

What is the treatment foe haemophilia?

Answer 10

Splints
Physiotherapy
Analgesia
Synovectomy
Joint replacement

Question 11

What are the complications of haemophilia treatment?

Answer 11

Viral infection - HIV, HB, HCV etc.
Inhibitors can cause anti-factor8 antibodies.
DDAVP - MI, hyponatraemia in babies

Question 12

What are some features of Von Willebrand disease?

Answer 12

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

Question 13

What are the different types of vWD?

Answer 13

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

Question 14

What is the treatment for vWD?

Answer 14

vWF concentrate or DDAVP
Tranexamic acid
Topical applications
OCP etc

Question 15

What are some examples of acquired bleeding disorders?

Answer 15

Thrombocytopenia
Liver failure
Renal failure
DIC
Drugs - warfarin, heparin, aspirin, clopidogrel etc.

Question 16

What are the characteristics of Thrombocytopenia?

Answer 16

Decreased production resulting in marrow failure, aplasia, infiltration.

Increased consumption - immune ITP, non immune DIC, hypersplenism.

Question 17

What are some clinical signs of thrombocytopenia?

Answer 17

Petechia
Ecchymosis - discolouration of skin due to bleeding underneath
Mucosal bleeding
Rare CNS bleeding

Question 18

What is ITP?

Answer 18

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

Question 19

What is ITP associated with?

Answer 19

Infection especially EBV, HIV
Collagenosis
Lymphoma
Drug induced

Question 20

What are some treatment options for ITP?

Answer 20

Steroids
IV IgG
Splenectomy
Thrombopoietin analogues e.g. eltrombopag, romiplostim.

Question 21

What are some causes of liver failure?

Answer 21

Factor 1,2,5,7,8,9,10 and 11.
Prolonged PT, APTT
Reduced fibrinogen.

Question 22

What are some features of HAemorrhagic disease of the Newborn?

Answer 22

Immature coagulation systems normally due to a vitamin K deficient diet.
Can result in fatal and incapacitating haemorrhage.
Completely preventable by administration of vitamin K at birth.