Inherited clotting disorders

Question 1

factor deficiency in hemophilia A

Answer 1

Factor VIII

Question 2

factor deficiency in hemophilia B

Answer 2

Factor IX

Question 3

presentation of haemophilia 2

Answer 3

spontaneous or minor trauma joint/muscle bleed

raised ‘lumpy’ bruises

Question 4

diagnosis of haemophilia 2

Answer 4

isolated porlonged APTT

specific factor deficiency

Question 5

treatment of haemophilia 1

Answer 5

recombinant factor administration (Intravenous)

Question 6

complications of haemophilia 3

Answer 6

progressive arthropathy

disability and transmision of blood borne infections

allergic reactions (factor antibody production)

Question 7

type of genetic condition is Von Willebrand Disease

Answer 7

majority autosomal dominatn
-some autsomal recessive

Question 8

role of von villebrand factor 3

Answer 8

large glycoprotien
-promotes platelet adhesion to damged endothelium

carrier molecule for factor VIII

Question 9

investigations for Von Willebrand Disease 3

Answer 9

prolonged APTT

reduced facotr VIII: VWF levels

no platelet agggregation on ristocetin co-facotr assay

Question 10

basic pathophys of Von Willebrand Disease

Answer 10

deficiency or abnormaltiy of Factor VIII: VWF levels

-resulting in factor VIII deficiency and decreased platelet adhesion

Question 11

presenation of Von Willebrand Disease 5

Answer 11

mucosal bleeding from :

GI

gums

epistaxis

menorrhagia

prolonged bleeding post trauma/surgery

Question 12

presenation of Von Willebrand Disease 5

Answer 12

mucosal bleeding from :

GI

gums

epistaxis

menorrhagia

prolonged bleeding post trauma/surgery

Question 13

treatment for Von Willebrand Disease 3

Answer 13

DDAVP (desmopressin) prophylaxis

recombinant FVIII for bleeding episodes

tranexamic acid for mild bleeding