19 - Inherited Clotting Disorders Flashcards Preview

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Flashcards in 19 - Inherited Clotting Disorders Deck (16):
1

where is vWF synthesized?

endothelial cells and megakaryocytes

2

what factor does vWF bind to start clot formation?

FVII

3

intrinsic and extrinsic "tenase"

intrinsic - IXa and VIIIa
extrinsic - TF-VIIa

4

prothrombinase

Xa-Va

5

defects in primary hemostasis present how clinically?

mucocutaneous bleeding (petechiae, epistaxis, menorrhagia, etc)
inc bleeding after aspirin or NSAIDs
inc intraop/postop bleeding

6

defects in secondary hemostasis present how clinically?

deep bleeding - hemarthrosis, soft tissue/ muscle hematomas, ecchymoses
increased surgical bleeding
mucosal, GI, GU bleeding

7

types of von willebrand disease

type 1 - heterozygous, partial deficiency
type 2 - dysfunctional vWF, several subtypes
type 3 - homozygous, severe deficiency

8

tx for von willebrand dz

DDAVP (synthetic analog of vasopressin) - causes inc release of vWF. need to test for response

plasma derived F.VIII products

antifibrinolytic agents (aminocaproic acid, tranexamic acid) - good for mucosal bleeding, c/i for hematuria

9

which is the most common factor that is deficient in hemophilia A

VIII

10

inheritance of hemophilia A

x-linked recessive but up to 1/3 are spontaneous mutation

11

hemophilia is a disorder of (primary/secondary) hemostasis

secondary

12

what severity group are most hemophiliacs?

severe (90%)

13

tx for hemophilia A

recombinant F.VIII product
DDAVP for milder
anti fibrinolytics (aminocaproic acid, tranexemic acid)

14

long term sequelae of hemophilia A

inhibitor development - Ab react to F.VIII from repeated exposure and minimal host production

target joints - hemorrhages cause damage over time

15

hemophilia B is a deficiency in what factor?

F.IX

16

which type of hemophilia is close to having a gene therapy option?

B