Bleeding disorders (Inherited) - Haemophilia A/B, Von Willebrand disease Flashcards
Describe two inherited bleeding disorders and bleeding pattern
Won Willerband disease - dysfunction of both primary and secondary haemostasis
Haemophilia A\B - Deficiency in clotting factor 8/9
Dysfunction of Secondary haemostasis
WHAT IS A SIGNIFICANT CLINCAL INDICATOR OF HAEMOPHILLIA
Hemarthroses
What is haemophilia inheritance pattern and pathogenesis
X-linked Recessive
Results:
Deficiency in factor 8 or factor 9 which are essential components of the the intrinsic pathways, leads to reduced thrombus formation and excessive bleeding
How would haemophilia present?
easy bruising
hemarthroses
prolonged bleeding
DX Haemophillia
Clotting screen will show secondary haemostasis dysfunction.
As factors 8/9 are intrinsic pathway:
APTT up
PT - Normal
Plasma levels of factor 8/9
Genetic testing for haemophillia
TX Haemophillia
Replace clotting factors:
H-A - IV f8
H-B - IV f9
What is the inheritance pattern and pathogenesis of Von Willerband Disease
Autosomal dominant inheritance pattern
Caused by mutation of the VWF gene on chr12.
= reduced/defective vwf results in both primary and secondary haemostasis dysfunction
this is because vwf:
1- helps platelets bind to collagen
2. protect clotting factor 8 from liver metabolism
How would vwd present?
Signs of primary hemostasis:
mucocutaneous bleeds:
easy bruising petechiae
menorrhagia
epistaxis
gi/gu bleed
hematuria
signs of secondary haemostasis
deep tissue bleeds
What might show this on a clotting screen
Increased APTT
normal PT
prolonged bleeding time
VWD
VWD dx
Plasma VWF levels
Clotting screen:
Increased APTT
Normal PT
Prolonged bleeding time
VWD TX
no DAY TO DAY tx
VWF-containing concentrate
Anti-fibrinolytic therapy - Transexamic acid (stop bleed)
+
Desmopressin - stimulates release of vwf
if severe consider (haemorrhage):
platelet transfusion
Cryoprecipitate (vwf/vlll)
