Bleeding disorder - Haemophilia (Type A and B) Flashcards
What type of disease in haemophilia?
X linked recessive disorder
1/3rd have no family history
How do you know if its type A or B haemophilia?
Its impossible to tell through signs alone
Which type of haemophilia is more common?
Type A
What are the two types of haemophilia?
Type A - deficiency in clotting factor 8
Type B - deficiency in clotting factor 9
What is type B haemophilia ilso known as?
Christmas disease
Who is mostly affected by haemophilia A and B?
Mostly men (X linked recessive) Women are usually just carriers
Which exception is there of women developing haemophilia A or B?
Those with turners syndrome
Those with affected dad + (affected mum or carrier mum who passes on her gene)
VERY rare
What is haemophilia?
A severe bleeding disorder causing a disorder in coagulation.
How many people have a sporadic mutation?
30% / 1/3rd
What are the presentations of haemophilia?
Excessive bleeding after minor trauma Haematomas Haemoarthrosis Muscle haematoma CNS bleeding Retroperotineal bleeding Spontaneous bleeding Bleeding from umbilical cord Gum bleeding GI tract bleeding Haematuria
What are the presentations of haemophilia?
Excessive bleeding after minor trauma Haematomas Haemoarthrosis Muscle haematoma CNS bleeding Retroperotineal bleeding Spontaneous bleeding Bleeding from umbilical cord Gum bleeding GI tract bleeding Haematuria
What are the more classic features of SEVERE haemophilia?
Haemoarthrosis (bleeding into joints)
Muscle bleeding
What is the investigations for haemophilia?
Prolonged aPTT Normal PT time Reduced FVIII or FIX Coagulation factor tests Bleeding scores Coagulation factor assays Genetic tests
What is the management for haemophilia?
IV Clotting factor replacement (prophylactically or in response to bleeding) Factor 8 or 9 concentrate Desmopressin (DDAVP) Tranexamic acid Emicuzimab
When is Emicuzimab given?
When patients have developed antibodies against factor 8
It is a monoclonal antibody that functions as factor 8
When is desmopressin used?
In mild haemophilia and VWF disease
Should be considered before thinking about transfusion
What is a risk with using factor VIII treatment?
10-15% of patients develop antibodies against factor 8.
What is a risk with using factor VIII treatment?
10-15% of patients develop antibodies against factor 8.
what does desmporessin do?
DDAVP stimulates the release of von willebrand factor
What are the complications of DDAVP?
MI
Hyponatraemia (in babies causing fits)
what are complications of haemophilia?
Synovitis
compartment syndrome
stroke
chronic haemophilic arthropathy
What joints are commonly affected in end stage haemophilic arthropathy?
Hinge joints > ball and socket joints
Ankles
Knees
Fixed flexion of the elbow
