Hemophilia Flashcards
What is thrombophilia? different types?
potential to clot; genetic, acquired, combined
What is the Factor V Leiden Mutation?
point mutation in Factor V gene
impairs active protein C and S complex inactivation of Factor Va
1 in 20 are carriers
may give some clotting advantage but does not fully determine clotting potential
What is the prothrombin mutation?
mutation in Factor II gene that increases prothrombin circulation
2-3% of population is heterozygous; homozygosity is less common
confers least likely chance to clot of the thrombophilia mutations
What is antithrombin deficiency?
70-90% lifetime risk for thromboembolism
occurrence is rare
What is protein C and S deficiency?
significantly increases risk for VTE events (big events like stroke, significant heart attacks at young age)
What is primary antiphospholipid syndrome?
autoimmune response associated with clotting
diagnosis is made with confirmed thrombosis, detection of LAC or ACL on multiple occasions, pregnancy morbidity
What is systemic lupus erythematosus?
more of a risk factor than a true thromboembolitic cause
20-25% of affected pregnancies end in fetal loss
other poor pregnancy outcomes include IUGR, placental abruption, pre-eclampsia, pre-term delivery
What is 4G/4G PAI-1 Mutation?
increased risk of thrombosis compared to 5G allele
would expect to see thromboembolisms more in a child compared to an adult
How does the testing approach for thrombophilia now compare to previously?
testing approach is more conservative and does not immediately include all at-risk family members
How do levels of factor VIII clotting activity relate to severity of hemophilia A?
<1%: severe
1-5%: moderately severe
>5%-40%: mild
These are the same answers for how factor IX levels relate to Hemophilia B!
How do symptoms vary based on severity of hemophilia?
severe: frequent spontaneous bleeding; abnormal bleeding after minor injuries, surgery, or tooth extractions
moderately severe: spontaneous bleeding is rare; abnormal bleeding after minor injuries, surgery, or tooth extractions
mild: no spontaneous bleeding but abnormal bleeding after major injuries, surgery, or tooth extractions
These are the same for hemophilia B!
What are the consequences of not treating hemophilia?
joint bleeding and progression of joint damage
result of calcification
What is the consequence of inhibitors in hemophilia treatment?
They are antibodies to infused factor medication, meaning that it is harder to treat with medication
True or false: new mutations are most likely to occur in mom
false. new mutations are most likely to occur in sperm of maternal grandfather
What is von Willebrand disease?
occurs in 1-2% of the population (underestimate)
Associated with easy bruising, nose bleeds, and heavy periods
Codominantly inherited
