Bleeding Disorders Flashcards
Define bleeding diathesis
Increased susceptibility to bleeding due to qualitative/quantitative defects of inhibition of the function of platelets, vWF or coagulation factors
What are the key questions in a bleeding history?
Has patient got a bleeding disorder?
How severe is it?
Pattern of bleeding - thrombocytopenic/vWF vs coagulation
Congenital vs acquired - prev. episode/age of onset
FH
Where do the bleeds occur in mucosal (thrombocytopenic/low vWF) bleeding?
Mucosal, GI, menorrhagia, petechiae/purpura, epistaxis
Where do bleeds occur in coagulation occur deficiencies?
Articular, muscle haematomas, CNS
What is a classical presentation for someone with haemophilia?
Young boy presenting with intra-articular bleeds (esp. knee, ankle, shoulder, elbow)
What is key about the petechiae in thrombocytopenic bleeding?
Non-blanching
Why do you get muscle wasting in haemophilia?
Disuse
Muscle haematomas
How would a boy with haemophilia present with an intracranial bleed?
Focal signs, headache, loss of consciousness
What should you ask in history of bleeding about previous bleeds?
Bruising Epistaxis Post-surgical/trauma - tonsillectomy, dental surgery, circumcision, appendectomy Menorrhagia PPH Post-trauma
HOW appropriate was the bleeding?
How is haemophilia inherited?
X-linked
How do the presentations of haemophilia A and B differ?
They don’t
What changes the severity of bleeding in haemophilia A and B?
The residual factor 8/9 in their circulation
<1% severe - unprovoked bleeding
1-5% moderate
5-30% - tend to be okay apart from maybe needing pre-surgical preventative measures
What is haemophilia A a deficiency of?
Factor 8
What is haemophilia B a deficiency of?
Factor 9
What are the clinical features of haemophilia?
Intra-articular bleeds (esp. into weight bearing, hinge joints)
Muscle haematomas (esp. calves and biceps)
CNS bleeding
Retroperitoneal bleeding
Post-surgical bleeding
What are the clinical complications of haemophilia?
Synovitis
Chronic haemophilic arthropathy
Neurovascular compression
Other sequlae of bleeding (stroke)
Why does chronic haemophilic arthropathy occur?
Macrophages eat blood in IA bleeds –> inflammatory cytokines released which drives degeneration of articular cartilage and joint –> end stage joint dx in young adulthood
What X-Ray findings will you get with end stage chronic haemophilic arthropathy?
Joint space narrowing
Development of osteophytes
How do you manage chronic haemophilic arthropathy?
Joint replacement
How do you diagnose haemophilia?
Typical history
Screening - APTT normal, AP normal (only screens for factors, 1, 2, 5, 7, 10)
Reduced factor 8/9 - check via assay
Genetic analysis to identify mutation
How do you treat haemophilia?
Recombinant factor 8/9 (3x week for 8, 2wkly for 9)
DDVAP if mild
Tranexamic acid
Also may require splints, physio, analgesia, synovectomy, joint replacement
How does DDVAP work?
Releases stored factor 8 and vWF from endothelium
In which groups of people can you not use DDVAP for treatment of haemophilia?
Elderly and young kids as if may put them at risk of hyponatraemia
What are the treatment complications of haemophilia?
HIV/HBV, HCV/vCJD transmission is kind of a thing of the past
Inhibitors - antibodies against factor 8 in nulmutations (as body not seen factor 8 before, don’t tend to get nulmutations in factor 9)
