Heritable Bleeding Disorders Flashcards
The balance between bleeding and clotting
Haemostatic balance
What 2 mechanisms for the haemostatic plug?
Aggregation and coagulation
3 main classes of bleeding disorders
Platelet dysfunction
Vessel wall
Coagulation defect
Which classes of bleeding disorders results in bleeding in the skin or mucosa
Platelet dysfunction
Vessel wall
Which classes of bleeding disorders result in deep muscular joint bleeds following trauma?
Coagulation defect
What drug affects the normal function of platelets
Aspirin
What 2 diseases affect the vessel wall
Ehler’s danlos
Scurvy
What disease is the abnormal interaction between platelets and the vessel wall
Von Willebrand Disease
4 characteristics of bleeding disorders due to vascular/platelet defects
Petechiae and superficial bruises
Skin/mucous membranes
Spontaneous
Prolonged and non recurrents
4 characteristics of bleeding disorders due to a defect in coagulation
Deep spreading haematoma
Haemarthrosis
Retroperitoneal bleeding
Prolonged, often recurrent
Red spots on the skin that do not blanch with pressure and are not palpable
Petechiae
Is von willebrand disease AR or AD
AD
What is the function of von willebrand factor?
Helps platelets adhere to vessel wall. Acts as a carrier for factor 8
Most common heritable bleeding disorder
Von Willebrand disease
Symptoms of von willebrand disease
Mucocutaneous bleeding including menorrhagia (heavy periods)
Post operative/post partem bleeding
If you are blood group O are you more or less likely to have von willebrand disease?
Less
Treatment for von willebrand disease
Antifibrinolytics Factor concentrations (including VWF) DDAVP-desmopressin-releases VWF from stores inside endothelial cells
What is the most common of coagulation factor deficiencies?
Haemophilia
Activated partial thromboplastin time measures which pathway and up until what factor?
Intrinsic
Thrombin
Prothrombin time measures which pathway and up until what factor?
Extrinsic
Thrombin
The thrombin clotting time measures what part of the clotting cascade
Thrombin>Fibrinogen>fibrin
The euglobulin lysis time measures what part of the clotting cascade
Plasmin>fibrin degredation products
What inheritence pattern are the haemophilias?
X linked recessive
Haemophilia A is a deficiency in which factor
8
Haemophilia B is a deficiency in which factor
9
Which is more common, haemophilia A or B?
A
Is severity variable or constant between family members with haemophilia?
Consistnet
Treatment for haemophilia
Antifibrinolytics
Replace the missing clotting factor-prophylaxis
DDAVP-desmopression that releases VWF stores from inside endothelial cells
