Congenital Bleeding Disorders

Question 1

what should you do if someone has a factor 12 deficiency?

Answer 1

there is no clinical issue - they have a super prolonged PTT but apparently they do not exhibit clinical bleeding

Question 2

What should you do if someone has a factor 11 deficiency?

Answer 2

just know its common in Ashkenazi jews

Question 3

What deficiency gives you hemophilia A?

Answer 3

factor 8 deficiency. They present with bleeding into the soft tissues or joints. Recall tha that the longterm effects of hemoarthrosis can be crippling

Question 4

What would the labs look like for someone with hemophilia A?

Answer 4

Prolonged PTT is the only abnormal lab, recall that PTT is the intrinsic pathway and includes factors 8,9,11,12

Question 5

How do you interpret the value of PTT?

Answer 5

the higher the value, the longer it is taking for that cascade to work, the worse off the patient is.

Question 6

what is the vFF and AG test for?

Answer 6

Gives you percentages which indicate your risk of spontaneous bleeding -
value under 1% = you will bleed spontaneously
Values over 30% means there is no clinical significance

Question 7

so what do you treat someone with hemophilia A with?

Answer 7

DDAVP - for minor procedures to attain levels of 30-40%

If not plasma based factor 8 - you need levels of 100% for major surgery

Question 8

what is the other name for HemophiliaB

Answer 8

Christmas disease

Question 9

what factor is deficient

Answer 9

9

Question 10

what lab values are expected

Answer 10

Prolonged PTT, normal everything else

Question 11

what is the treatment?

Answer 11

prothrombin complex concentrate ( serum with factors 2, 9, 10)

Question 12

what is the pathophys of von willebrand disease?

Answer 12

Von willebrand factor helps platelets adhere to endothelium to make a platelet plug ans if the only factor in the clotting cascade not made by the liver ( its made by megakaryocytes).

Question 13

pts with VWF deficiency present with what kind of bleeding

Answer 13

mucosal

Question 14

types of VWF disease?

Answer 14

type 1 : autosomal dominant, have abn bleeding time test

type2: variable expression
type3: autosominal recessive with complete absence of vWF and SEVERE BLEEDING

Question 15

what are treatment options for VWF?

Answer 15

DDAVP - stimulates the release of VWF that are stored in the endothelial cells. DDAVP is only effective in type 1 disease, the mildest form

Question 16

what about treatment for type 2 and 3?

Answer 16

type2: cryoprecipitate is used : factor 8 and 12 are in cryo aswell as VWF and thrombin

Question 17

what perioperative recommendations are there for VWD?

Answer 17

for type one use DDAVP one day preop and 2-3 days postop. For type 2 or 3 you need the blood product replacements