COAGULATION DEFECTS Flashcards
characterized by multiple clotting abnormalities
Vitamin K Deficiency – depresses synthesis of II, VII, IX, X, protein C, protein S
Liver disease/DIC – causes coagulation problems
Acquired Coagulation Deficiencies
Caused by problems in the Factor VIII-vWF complex
Deficiency in Factor VIII or Factor VIII procoagulant protein
Hereditary Coagulation Deficiencies
Hemophilia A, Factor VIII-vWF complex
required for activation of factor X
Factor VIII
multimeric protein that binds to collagen, heparin, platelet membrane glycoproteins Ib-Ix and IIb-IIIa
vW Factor
common inherited bleeding disorder (1% of people)
Clinical Signs** • spontaneous bleeding from mucous membranes • excessive wound bleeding • menorrhagia (heavy periods) • prolonged bleeding time
Von Willebrand’s Disease
name this type of Von Willebrand’s Disease –
autosomal dominant - 70% of all cases
o Causes a mild disease
o Reduced penetrance and variable expressivity
Type 1 vWD
name this type of Von Willebrand’s Disease –
autosomal dominant, missense mutation
Type 2 vWD
name this type of Von Willebrand’s Disease –
– autosomal recessive
o A much more severe disease causing very low levels of vWF
o Testing may resemble hemophilia due to instability of factor VIII
Type 3 vWD
caused by low levels of Factor VIII
Cause – X-linked recessive
Hemophilia A
factor IX deficiency (“Christmas Disease”)
Cause – X-linked recessive
Hemophilia B