clotting factor disorders

Question 1

What is hemophilia ?

Answer 1

An X-linked bleeding disorder caused by a deficiency in factor VIII or IX.

Question 2

Who are mostly affected by hemophilia?

Answer 2

Males because it is an X-linked recessive

Question 3

What are the two type of hemophilia?

Answer 3

Hemophilia A: Deficiency in Factor VIII = AIGHT
Hemophilia B: Deficiency in Factor IX

Question 4

What are the presentation of hemophilia?

Answer 4

Hemarthrosis (bleeding in joints)
Bruise Easily
Bleeding (prolonged)->bleeding can occur in muscle, abdomen, head

Question 5

How is hemophilia diagnosed?

Answer 5

Increased PTT
Normal PT and platelets
Functional assay for factor VIII and IX: shows these factors decreased depending on the type.

Question 6

What is the treatment of Hemophilia?

Answer 6

replacement of factor VIII or IX

avoid drugs (for example, aspirin and probably also nonsteroidal anti-inflammatory drugs) that interfere with the function of platelets.

Question 7

What is Von willebrand disease?

Answer 7

The most common Autosomal dominant genetic bleeding disorder that causes decreased von Willebrand factor which affects how platelets stick together.

Question 8

Why is factor VIII also affected in von willebrand disease?

Answer 8

Factor VIII in its inactive state binds to VWF in the circulation. If it is unbound, it rapidly degrades.

Question 9

What is the presentation of vWD

Answer 9

Parent who has a history of bleeding problems.

Epistaxis, gingival bleeding.

Excessive bruising

Menorrhagia

Hx of miscarriages or Excessive bleeding after childbirth

Question 10

What is the diagnosis of vWD?

Answer 10

increased PTT
normal PT
VWF antigen: decreased
VWF activity: no platelet aggregation when given ristocetin
factor VIII decreased

Question 11

What is the treatment of vWD?

Answer 11

Desmopressin: stimulates the release of VWF from endothelial cells

Transfusion therapy if excessive bleeding