Inherited Bleeding Disorders and Thrombocytopenia Flashcards
What are the differential diagnoses of bleeding disorders in childhood?
Haemophilia A or B (Factor VIII or IX deficiency)
Congenital ITP
Von Willerband’s disease
ITP
DIC
Leukaemia
What is thrombocytopenia?
A low platelet count.
What is haemophilia?
It is an X linked hereditary bleeding disorder.
2 types
A: Factor VIII deficiency
B: Factor IX deficiency
How is haemophilia categorised?
By degree of factor deficiency
Mild: 5-40% Bleeding after after surgery
Moderate: 1-5% Bleeding after minor trauma
Severe: Less than 1% spontaneous bleeding into joints
How does haemophilia present?
40% present in the neonatal period with:
- intracranial haemorrhage
- oozing from the heel prick
- post circumcision
Often presents with recurrent spontaneous bleeding into joints and muscles which can lead to arthritis, often presents around 1 year of age when infants start to walk.
How is haemophilia treated?
Treatment is recombinant factor 8 or 9 depending on type A or B.
Given prophylactically and when actively bleeding.
What is von Willebrand’s Disease?
A deficiency in von Willebrand factor (responsible for platelet adhesion and as a carrier protein for factor VIII).
They therefore have problems with factor VIII deficiency and platelet adhesion.
It is caused by a variety of mutations, inheritance is usually dominant.
How does von Willebrand’s Disease present?
The most common form is usually mild and often not diagnosed till puberty or adulthood.
Presents with:
- Bruising
- Prolonged bleeding post surgery
- Mucosal bleeding
Spontaneous bleeding is uncommon.
How is von Willebrand’s treated?
Treated with synthetic vasopressin as it causes secretion of factor VIII and vWP.
Used in caution in under 1’s as can cause hyponatraemia and seizures.
NSAIDs, aspirin and IM injections should be avoided.
