Heritable Bleeding Disorders

Question 1

The balance between bleeding and clotting

Answer 1

Haemostatic balance

Question 2

What 2 mechanisms for the haemostatic plug?

Answer 2

Aggregation and coagulation

Question 3

3 main classes of bleeding disorders

Answer 3

Platelet dysfunction
Vessel wall
Coagulation defect

Question 4

Which classes of bleeding disorders results in bleeding in the skin or mucosa

Answer 4

Platelet dysfunction

Vessel wall

Question 5

Which classes of bleeding disorders result in deep muscular joint bleeds following trauma?

Answer 5

Coagulation defect

Question 6

What drug affects the normal function of platelets

Answer 6

Aspirin

Question 7

What 2 diseases affect the vessel wall

Answer 7

Ehler’s danlos

Scurvy

Question 8

What disease is the abnormal interaction between platelets and the vessel wall

Answer 8

Von Willebrand Disease

Question 9

4 characteristics of bleeding disorders due to vascular/platelet defects

Answer 9

Petechiae and superficial bruises
Skin/mucous membranes
Spontaneous
Prolonged and non recurrents

Question 10

4 characteristics of bleeding disorders due to a defect in coagulation

Answer 10

Deep spreading haematoma
Haemarthrosis
Retroperitoneal bleeding
Prolonged, often recurrent

Question 11

Red spots on the skin that do not blanch with pressure and are not palpable

Answer 11

Petechiae

Question 12

Is von willebrand disease AR or AD

Answer 12

AD

Question 13

What is the function of von willebrand factor?

Answer 13

Helps platelets adhere to vessel wall. Acts as a carrier for factor 8

Question 14

Most common heritable bleeding disorder

Answer 14

Von Willebrand disease

Question 15

Symptoms of von willebrand disease

Answer 15

Mucocutaneous bleeding including menorrhagia (heavy periods)

Post operative/post partem bleeding

Question 16

If you are blood group O are you more or less likely to have von willebrand disease?

Answer 16

Less

Question 17

Treatment for von willebrand disease

Answer 17

Antifibrinolytics
Factor concentrations (including VWF)
DDAVP-desmopressin-releases VWF from stores inside endothelial cells

Question 18

What is the most common of coagulation factor deficiencies?

Answer 18

Haemophilia

Question 19

Activated partial thromboplastin time measures which pathway and up until what factor?

Answer 19

Intrinsic

Thrombin

Question 20

Prothrombin time measures which pathway and up until what factor?

Answer 20

Extrinsic

Thrombin

Question 21

The thrombin clotting time measures what part of the clotting cascade

Answer 21

Thrombin>Fibrinogen>fibrin

Question 22

The euglobulin lysis time measures what part of the clotting cascade

Answer 22

Plasmin>fibrin degredation products

Question 23

What inheritence pattern are the haemophilias?

Answer 23

X linked recessive

Question 24

Haemophilia A is a deficiency in which factor

Answer 24

8

Question 25

Haemophilia B is a deficiency in which factor

Answer 25

9

Question 26

Which is more common, haemophilia A or B?

Answer 26

A

Question 27

Is severity variable or constant between family members with haemophilia?

Answer 27

Consistnet

Question 28

Treatment for haemophilia

Answer 28

Antifibrinolytics
Replace the missing clotting factor-prophylaxis
DDAVP-desmopression that releases VWF stores from inside endothelial cells