Bleeding disorders Flashcards
In normal haemostasis what is the function of the vessel wall?
- Maintain “intactness”
- Encourage blood flow
What is the primary normal haemostatic response?
- Platelet Plug Formation, Platelets, vWF, Wall
What is the secondary haemostatic response?
- Secondary Fibrin Plug Formation
What is haemorrhagic diathesis?
Unusual susceptibility to bleeding
What is usually the cause of haemorrhagic diathesis?
Any quantitative or qualitative abnormality
Inhibition of function
- Platelets
- vWF
- Coagulation factors
What are the key points for bleeding history?
- Has the patient actually got a bleeding disorder
- How severe is the disorder?
- Pattern of Bleeding
- Congenital or Acquired
- Mode of inheritance
What is included in the history of bleeding?
- Bruising
- Epistaxis
- (The above two are less relevent)
-
Post-surgical bleeding
- Dental Surgery
- Circumcision
- Tonsillectomy
- Appendicectomy (if answer is no to any post surgical then unlikely to have a bleeding disorder
- Menorrhagia
- Post-partum haemorrhage
- Post-trauma
What is the relevance of spontaneity of bleeding?
- Unprovoked bleeding is completely pathological
- Easily provoked bleeding needs investigated
Pattern of bleeding
How can we tell if it’s a platelet problem?
Coagulation factor problem?
- Platelet type
- Mucosal
- Epistaxis – recurrent and doesn’t stop
- Purpura – red/purple discoloured spots
- Menorrhagia
- GI
- Coagulation Factor Articular – bleeding into joints (severe haemophilia)
- Muscle Haematoma
- CNS
How can we tell if it is petichia?
Press them and will not blanch
Which joints are worse for bleeding disorders?
- hinge joints
What are characteristics of Intracranial Haemorrhage in Haemophilia?
- Headache, focal signs, often death – massive haematoma, oedema, poor prognosis
How can we tell if a bleeding disorder is congenital or acquired?
- If we think it is a new bleeding disorder then that must have been acquired.
- If had previous episodes then likely to be congenital
- Age at first event
- Previous surgical challenges
- Associated History
What are other characteristics that point to a hereditary disorder?
- Family members with similar history
- Sex
Please see image as example of x linked disorder:
Please see image as example of autosomal dominant:
What are the genetic and general characteristics of haemophilia A and B?
- X-linked
- Identical phenotypes
- 1 in 10,000 and 1 in 60,000
- Severity of bleeding depends on the residual coagulation factor activity
- <1% Severe – bleeds without provication, coagulation factors of less than 1 %
- 1-5% Moderate
- 5-30% Mild
What are the haemophilia clinical features?
- Haemarthrosis (bleeding into joints)
- Muscle haematoma
- CNS bleeding
- Retroperitoneal bleeding
- Post surgical bleeding – preventable
Which age group suffer from more severe sinovitis?
- Old men have more swollen sinovitis compared with young men
What are the clinical complications of haemophilia?
- Synovitis
- Chronic Haemophilic Arthropathy
- Neurovascular compression (compartment syndromes)
- Other sequelae of bleeding (Stroke)
- Patients often need joint replacement
Dx of haemophilia?
-
Clinical
- Present within 6 months and 2 years: kid stops walking.
- Do not consider inappropriate trauma without exploring bleeding disorder
- Present with joint swelling
- Prolonged APTT
- Normal PT
- Reduced FVIII or FIX
- Genetic analysis
What is the treatment of haemophilia?
- Coagulation factor replacement FVIII/IX
- Now almost entirely recombinant products
- DDAVP
- Tranexamic Acid
- Emphasis on prophylaxis in severe haemophilia
- given factor 8 and 9, aiming to keep the trough level high enough so that bois do not have a reduced factor level, so can expect them to have zero bleeds.
Other treatments for haemophilia?
- Splints
- Physiotherapy
- Analgesia
- Synovectomy
- Joint replacement
What are complications of treatment of haemophilia?
- Viral infection
- HIV
- HBV, HCV,
- Others/ vCJD?
- Inhibitors Anti FVIII Ab
- Rare in FIX (because there are fewer null mutations)
- DDAVP (releases stored factor 8): MI
- Hyponatraemia(babies)
