Bleeding Disorders

Question 1

haemophilia A vs B?

Answer 1

A = clotting factor 8 deficiency
B = clotting factor 9 deficiency

Question 2

which haemophilia is more common?

Answer 2

A

Question 3

how is haemophilia inherited?

Answer 3

X linked recessive (more commonly affects boys born to carrier mothers)
some can be sporadic/new mutations (not inherited) which are usually associated with autoimmune disorders

Question 4

are carrier mothers affected?

Answer 4

some can have prolonged APTT

Question 5

how does severe haemophilia present?

Answer 5

frequent spontaneous deep muscular haemotomas and haemorthroses (usually results in joint deformity)
usually present <1 year old

Question 6

how does mod haemophilia present?

Answer 6

occassional spontaneous bleeds and severe bleeding from injuries
usually presents in first 2 years of life

Question 7

how does mild haemophilia present?

Answer 7

increased/delayed bleeding only after an injury or surgery

usually presents older than 2 years old

Question 8

how is haemophilia diagnosed?

Answer 8

clinical features + fam history
plasma factor 8 and 9 count
prolonged APTT
normal PT
normal vWF
normal bleeding time?

Question 9

how can carriers be tested for the haemophilia mutation in pregnancy?

Answer 9

antenatal testing - amniocentesis/chorionic villous sampling

Question 10

non-pharmacological management of haemophilia?

Answer 10

physio
hydrotherapy
education and activity modification
avoid NSAIDs and IM/joint injections

Question 11

pharmacological management of haemophilia?

Answer 11

factor 8/9 IV infusion
synthetic vasopressin (only works in haemophilia A and if mild)
fibrinolytic inhibitors (eg tranexamic acid) can be helpful in mild cases but should be avoided in haemarthroses or deep muscular haematomas

Question 12

vaccinations in haemophilia?

Answer 12

hep B

Question 13

what is von willebrand disease?

Answer 13

inherited bleeding disorder caused by deficiency in von willebrand factor

Question 14

what is von willebrand factor needed for?

Answer 14

dual role in primary and secondary haemostasis

1. enhances platelet adhesion to areas of endothelial damage
2. stabilises factor 8 by binding to it

Question 15

when does von willebrand disease present?

Answer 15

any time in life

Question 16

how does von willebrand disease present?

Answer 16

easy bruising
prolonged bleeding following minor trauma
heavy bleeding following surgery
conjunctival bleeding
umbilical stump bleeding
menorrhagia
(more mucosal bleeding symptoms than haemophillia)

Question 17

blood tests in von willebrand disease?

Answer 17

prolonged bleeding time
mildly prolonged APTT (usually not as prolonged as haemophillia)
normal PT

Question 18

what is ITP?

Answer 18

immune mediated reduction in platelets

antibodies directed towards glycoproteins IIB/IIIa

Question 19

how do children with ITP present?

Answer 19

acute thrombocytopenia following infection or vaccination

Question 20

how does adult ITP differ from child ITP?

Answer 20

tend to be more chronic
doesnt always follow an infection/vaccination
needs treatment (children usually self limiting over 1-2 weeks with monitoring)
more common in females

Question 21

how do adults present with ITP (if symptomatic)?

Answer 21

petichae
purpura
bleeding (eg epistaxis, blood in urine/stools)
mucosal bleeding (eg from gums, menorrhagia)
catastrophic bleeding is rare (eg intracranial bleed)

Question 22

how is ITP managed in adults?

Answer 22

first line = oral prednisolone
IV immunoglobulin (IVIg) may be used in active bleeding or if an urgent procedure is required as it raised platelet count quicker than steroids
immunosuppressants can be used
splenectomy can be done if platelets <30 after 3 months steroids but rarely done these days

Question 23

how is ITP investigated?

Answer 23

low platelet count
antiplatelet autoantibodies (usually IgG)
bone marrow aspirate shows megakaryocytes (do aspirate before steroids to rule out leukaemia)

Question 24

what causes ITP in adults?

Answer 24

autoimmune attack on platelets

can be triggered by infection etc or idiopathic

Question 25

what is TTP?

Answer 25

thrombotic thrombocytopenic purpura
disease where many small blood clots form in the smallest arteries resulting in low platelet count (thrombocytpenia) and haemolytic anaemia

Question 26

signs and symptoms of TTP?

Answer 26

can cause neurological symptoms (headaches, mental change, confusion, paresis, seizures etc)
petichae 
purpura 
abnormal heavy bleeding
anaemia symptoms
can have fever
can have renal failure (in 10%)

Question 27

what causes TTP?

Answer 27

not known
associated with deficiency in vWF cleaving enzyme (so lots of vWF in blood leading to lots of clots etc)
acquired TTP thought to be immune related

Question 28

how is TTP diagnosed?

Answer 28

clinical evaluation

proven? deficiency in vWF enzyme

Question 29

how is TTP managed?

Answer 29

plasmapheresis or plasma exchange used to remove antibodies that inhibit vWF enzyme
routinely given steroids to inhibit formation of the antibodies
immunosuppressants can be used