Haemophilia

Question 1

haemophilia A is a factor ___ deficiency

Answer 1

VIII

Question 2

presentation of haemophilia

Answer 2

haemarthrosis
muscle atrophy
muscle haematoma
CNS bleed
retroperitoneal bleed
surgical bleeding
bleeding after minor trauma

Question 3

what type of joints fair worst in haemarthrosis

Answer 3

hinge joints

Question 4

severe haemophilia is defined as coagulation factors activity at what %

Answer 4

<1%

Question 5

true/false - haemophilia is x-linked

Answer 5

true - males affected, female carriers

Question 6

at what age does haemophilia become apparent

Answer 6

6 months - 2 years

Question 7

what blood test is of the intrinsic pathway and what change is observed in haemophilia

Answer 7

APTT - prolonged in haemophilia

Question 8

what blood test is of the extrinsic pathway and hence unchanged in haemophilia

Answer 8

prothrombin time

Question 9

true/false - foetal genetic testing can be done in utero to assess the presence of haemophilia

Answer 9

true

Question 10

haemophilia is x-linked dominant/recessive

Answer 10

recessive

Question 11

whats more common haemophilia a or b

Answer 11

A is 5 times more common

Question 12

what is the platelet type of bleeding

Answer 12

muscosal pattern –> nose bleeds, brusing, purpura, menorrhagia and GI bleeds

Question 13

what is the coagulation factor pattern of bleeding

Answer 13

articular, muscle haemotoma, CNS

Question 14

prophylactic treatment for haem A

Answer 14

3 times weeky factor VIII infusions till maturity then stop

Question 15

acute treatment of haem A

Answer 15

FFP or cryoprecipitate or factor VIII concentrate if available
desmopressin
tranexamic acid

Question 16

prophylaxisin haem B

Answer 16

factor IX concentrate

Question 17

complication more commonly seen in B than A

Answer 17

inhibitor development - body develops inhibitors to factor IX and it stops working

Question 18

acute treatment of haem B

Answer 18

factor concetrate if available, cryoprecipitate or FFP if it’s not
tranexamic acid

Question 19

management of both haem A and B (think orthopaedics)

Answer 19

DDVAP, splints, physio, analgesia, synovectomy, joint replacement

Question 20

how does DDAVP work and what are its complications

Answer 20

releases factors from endothelial cells but can cause MI or hyponatraemia

Question 21

what’s more common, von willebrand’s or haemophilia

Answer 21

von willebrand’s (1 in 200)

Question 22

von willebrand’s shows platelet type or coagulation factor type bleeding

Answer 22

platelet type - mucosal

Question 23

classificaition of von willebrand’s

Answer 23

type 1: quantative deficiency
type 2: qualitative
type 3: complete deficiency

Question 24

treatment for von willebrand’s

Answer 24

vWF concentrate
DDAVP
tranexamic acid
topic applications
OCP

Question 25

give 3 causes of thrombocytopenia

Answer 25

marrow failure, hypersplenism and marrow aplasia

Question 26

treatment for thrombocytopenia

Answer 26

platelets

Question 27

why does liver failure cause bleeding

Answer 27

cause it makes factors I, II, V, VII-XI. need vitamin K to do so

Question 28

3 test results seen in liver failure thrombocytopenia

Answer 28

prolonged PT, APTT and reduced fibrinogen

Question 29

true/false - vitamin K increased clotting factors within 30 mins

Answer 29

false - takes a few hours - so not good in acute

Question 30

prophylaxis against haemorrhagic disease of the newborn

Answer 30

vitamin K injection in first few days