37 - Heritable Bleeding Disorders Flashcards
Vascular/Platelet defect clinical presentation
Petechiae & superficial bruises
Skin and mucosal membranes
Spontaneous
Bleeding immediate, prolonged + recurrent
Coagulation defect - clinical presentation
Deep spreading haematoma
Haemarthrosis (bleeding into joint spaces)
Retroperitoneal bleeding
Bleeding prolonged and often recurrent
Petechiae - what does it look like?
Do not blanch with pressure
Not palpable
Types of von Willebrand disease
Absent molecule - severe
Reduced production of normal molecule
Low molecular weight polymer
What factor is associated with VWF? What is this protein responsible for?
FVIII - carrier protein
FVIIIa responsible for turning FIXa into FX
VWF - inheritance pattern
AD
VWF features
Most common heritable bleeding disorder
Mainly AD
Men + Women
Defective primary haemostasis
Menorrhagia
Post op and post partum bleeding
VWF which blood group has lower levels of vWF?
O blood group
Treatment of vWF
Antifibrinolytics DDAVP - for type I vWD Factors containing concentrates of vWF Vaccination against hepatitis COCP (combined oral contraceptive pill) for menorrhagia
Haemophilia inheritance factors
XL recessive
Haemophilia A - factor affected and prevalence
Factor VIII deficiency
1in 5,000 males
Haemophilia B - factor affected and prevalence
Factor IX deficiency
1 in 30k males
Extrinsic clotting factors
Tissue factor (thromboplastin)
Ca2+
Factor VII
Intrinsic clotting factors
Factor XII, XI, IX, VIII
Platelets
Phospholipids
Ca3+
What % of haemophilia diagnoses are de novo?
30%
