Hereditary disorders of coagulation

Question 1

Factor VIII Deficiency (Hemophilia A)- Eti

Answer 1

Congenital deficiency in coagulation factor VIII. X-linked recessive-affected males

Question 2

Factor VIII Deficiency (Hemophilia A)- Sx

Answer 2

Spontaneous bleeding in joints & soft tissues, arthropathy, significant bleeding. Recurrent hemarthrosees & arthropathy

Question 3

Factor VIII Deficiency (Hemophilia A)- Dx

Answer 3

Low factor VIII in absence of other conditions. Often dx in infants

Question 4

Factor VIII Deficiency (Hemophilia A)- Tx

Answer 4

Plasma derived or recombinant factor concentrate infusions

Question 5

Factor IX deficiency (hemophilia B)- Eti

Answer 5

Congenital deficiency of coagulation factor IX. Less common

Question 6

Factor IX deficiency (hemophilia B)- Sx, Dx. Tx

Answer 6

Same as Hemophilia A

Question 7

Von Willebrand disease- Eti

Answer 7

Most common inherited bleeding disorder. Von Willebrand factor binds platelets to endothelium. Autosomal inheritance. 3 types, type 1 most common

Question 8

Von Willebrand disease- Sx

Answer 8

Bleeding involving integumentary system, mucous membranes- mild to severe.Decreased PTT, corrects with mixing.

Question 9

Von Willebrand disease- Dx

Answer 9

Assessment of von willebrand factors and Factor VIII activity

Question 10

Von Willebrand disease- Tx

Answer 10

DDAVP- releases VWF and FVIII from endothelial stores