platelet binding protein

collagen binding protein

factor VIII binding protein

vWF antigenic protein

bleeding time: prolonged

platelet count: normal to decreased

PTT: normal to prolonged

factor VIII level: decreased

aka large platelet disease

autosomal recessive inheritance pattern

glycoprotein 1b on chromosome 17 & 22

glycoprotein IX on chromosome 3

qualitative defect in glycoprotein Ib and IX

inappropriate platelet adhesion to vWF

manifested in infancy or childhood

severe bleeding

bleeding time: prolonged

platelet count: decreased 50,000 - 80,000 ul

giant platelets: 5 - 8 um

platelet transfusions

HLA matched platelets

DDAVP

recombinant factor VIIa

glycoprotein IIb on chromosome 17

glycroprotein IIIa on chromosome 17

qualitative defect in glycoprotein IIb/IIIa complex

inappropriate platelet aggregation

appear in infancy or childhood

severe and debilitating bleeding episodes

normal platelet count and morphology

bleeding time: prolonged

platelet aggregation

deficiency of factor VIII

anatomic bleeding with deep muscle and joint involvement

bleeding into CNS, GI tract, and kidneys

PT: normal

APTT: prolonged

thrombin time: normal

recombintnat factor VIII

DDAVP

plasma concentrate

factor XI deficiency

autosomal recessive trait

general population 1/100,000

mild to severe bleeding

bleeding runs gamut from bruising to severe hemorrhage 

bleeding time: normal

PT: normal

APTT: prolonged

factor XI levels: decreased

rarely required

replacement factor therapy using fresh frozen plasma