section 9 - factor deficiencies Flashcards
factor VIII:C deficiency
hemophilia A
- most common deficiency in USA
- X linked recessive
- deficiency in vWF:VIII complex
- causes clinical bleeding
Factor IX deficiency
- hemophilia B
- 2nd most USA common
- X linked recessive
- less severe than A
acquired VIII deficiency
- DIC: being used up
- Liver disease: not using enough
acquired IX deficiency
- DIC
- liver disease
- vit K deficiency (IX is vit K deficient)
- oral anti coagulants
list fibrinogen deficiencies
- afibrinogenemia: hereditary = bleeding
- hypofibrinogenemia: <100mg/dL = bleeding
- dysfibrinogenemia: abnormal functionality = bleeding & thrombosis
list the differential diagnosis of dysfibrinogenemia
- fibrinogen activity: low
- fibrinogen antigen: increased
acquired fibrinogen deficiencies
- DIC
- fibrinogenolysis
- liver disease
describe hyperfibrinogenemia
- fibrinogen = acute phase reactant
- physiologic stress causes fibrinogen increase
- can lead to thrombosis
describe prothrombin deficiency
- rarest of congenital deficiencies
- autosomal recessive
- heterozygotes = asymptomatic
- homozygotes = bleeding
acquired prothrombin deficiency
- DIC
- liver disease
- vitamin K deficiecny
- oral anticoagulants
describe factor V deficiency
- autosomal recessive (both sexes impacted equally)
- only homozygotes have symptomatic bleeding
- treatment with FFP not cryo
acquired factor V deficiecny
- DIC
- liver disease
describe factor VII deficiency
- autosomal recessive
- 1/500,000 cases
- only homozygotes have symptoms
- treat with FFP, prothrombin complex concentrate (PCC) and vit K supplements
acquired factor VII deficiency
- DIC
- liver disease
- vitamin K deficiency
- oral anticoagulants
factor X deficiency
- autosomal recessive
- heterozygotes = mild bleeding
- homozygotes = severe bleeding
acquired FX deficiency
- DIC
- liver disease
- vitamin K deficiency
- oral anticoagulants
- amyloidosis
describe amyloidosis
deposition of amyloid (starch substance) in organs that absorbs FX
describe factor XI deficiency
- hemophilia C
- autsomal recessive
- only homozygotes have bleeding
- only contact factor leading to bleeding
- acquired: DIC and liver disease
describe FXII deficiency
- relatively common
- autosomal recessive
- APTT increased w/o bleeding
- thrombosis issues
- acquired through DIC and liver disease
describe PK deficiency
- rare seen most in black families
- APTT increased
- leads to thrombosis
HMWK deficiency
- increased APTT with thrombosis
- clinically asymptomatic
factor XIII deficiency
- poor wound healing, increased scar formation
- cranial hemorrhage
- PT and APTT normal
- confirmed with urea clot lysis
very very rare
describe the mechanism of DIC
- trigger
- increased clotting
- consumption of platelets
- consumption of clotting factors
=> DIC
what is the trigger (generally of DIC)
- acute: overwhelming stimulation of coagulation
what three tests are the differentiating factors for fibrinolysis and fibrinogenolsys
- D dimer
- platelet count
- peripheral smear
fibrinolysis: d dimer, platelet count and PS result
d dimer: pos
plt count: decreased
PS: shistocytes
fibrinogenolysis: d dimer, platelet count, PS results
d dimer: negative
platelet count: normal
PS: normal
name the results for fibrinolysis and fibrinogenolysis:
- PT
- APTT
- fibrinogen
- TT
- CTT
- FDP
- PT: prolonged
- APTT: prolonged
- fibrinogen: decreased
- TT: prolonged
- CTT: prolonged (FDP inhibitor)
- FDP: positive/increased
what differentiates chronic DIC from acute
chronic is compensated and proceeds slowly -> less critical
Describe liver disease impact on hemostasis
- produces all factors, plasminogen, AT and antiplasmin
- disease = deficiency/dysfunctional factors and inhibitors
- accumulation of plasminogen activators
- bleeding or thrombosis
describe impact of renal disease on hemostasis
- tendency for both thrombosis and bleeding
- lose some factors: AT and protein C in urine
describe vitamin K deficiency impact on hemostasis
- decreased magic four (2, 7, 9, 10)
- decreased protein C
massive transfusions
- decreased V and VIII labile
- citrate toxicity
- thrombocytopenia
