haemophiliac + vWF

Question 1

haemophilia - inheritance

Answer 1

x linked

mothers are obligate carriers

1 in 4 chance of son being affected

Question 2

haemophilia severity

Answer 2

spectrum - dependent on residual coagulation factor activity

• <1% severe
• 1-5% moderate
• 5-30% mild

Question 3

haemophilia A def?

Answer 3

factor VIII

more common

Question 4

haemophilia B def?

Answer 4

factor IX

Question 5

PC of haemophilia

Answer 5

haemarthrosis - massive bleeds into the joints - typically knees and retroperitoneal bleeds

associated with joint deterioration
chronic haemophiliac arthropathy

increased APTT (active partial thromboplastin time)

Question 6

treatment for severe haemophilia

Answer 6

prophylactic recombinant factor - VIII or IX

Question 7

tx for mild haemophilia and vWF

Answer 7

DDVAP (desmopressin - triggers tissue release of clotting factors)

and tranexamic acid

Question 8

vWF inheritance

Answer 8

autosomal dominant

commonest inheritable bleeding disorder

Question 9

PC vWF

Answer 9

mucosal bleeding 
gi bleeds
purpura rash 
menorrhagia
gums

Question 10

types of vWF def

Answer 10

type 1: reduced vWF
type 2: abnormal vWF
type 3: absent vWF

Question 11

DDx for thrombocytopenia

Answer 11

marrow failure
hypersplenisms

ITP

Question 12

what is ITP

Answer 12

immune thrombocytopenic purpura

rash - indicative of platelet disorder but without any other features and completely normal blood - but pt normally PC with concurrent infection
results in autoimmune Abs against surface receptors on platelets

tx for ITP - thrombopoeitin analogues

Question 13

HDN?

Answer 13

haemorrhagic disease of the new born

due to vitamin K deficiency - can lead to fatal haemorrhage

administration of IV vit K at birth

Question 14

how does jaundice relate to clotting

Answer 14

jaundice -> cholestasis -> lack of bile - fat soluble vitamins not absorbed (A D E K) - K essential for clothing factors

Question 15

thresholds for giving platelets?

Answer 15

• 50 normally e.g. hernia repair
• 100 in CAVG
• 15 in chemo pts

Question 16

infection unlikely to get with blood transfusion

Answer 16

hepatitis A

Question 17

severe haemophilia A - treatment and regime

main complication?

Answer 17

recombinant factor VIII
given once daily in smaller doses

development of inhibitory Abs - sit on VIII + stop it functioning

Question 18

PC - female, easy bruising, small red spots on ankles, no hx of bleeding - recent flu like symptoms - most likely diagnosis?

Answer 18

ITP

purpura rash

Question 19

factor V leiden?

Answer 19

autosomal dominant genetic disorder - hypercoaguability - excessive clotting due to factor V - within the veins

therefore RF for VTE