familial thrombotic d/o Flashcards
most common in whites
factor V leiden
autosomal point mutation causing resistance to protein C
Factor V leiden etiology
2nd most common
prothrombin gene mutation
caused by adenine and guanine swapping places
prothrombin gene mutation
levels of prothrombin with prothrombin gene mutation
high
how is factor V leiden diagnosed
short-normal PTT after adding protein C
confirm w/ PCR
how is prothrombin gene mutation diagnosed
PCR
in normal physiology what does ATIII do?
it inhibits II and X
in normal physiology what does protein C & S do?
inactivate factor V and VIII
autosomal dominant but can be acquired via liver dz, warfarin, nephrotic syndrome or DIC
protein C & S deficiency
unique sx of protein C & S deficiency (2)
neonatal purpura fulminans
skin necrosis (can be warfarin related)
how is protein C & S diagnosed?
assay looking for free S
assay below limit (C)
can be acquired or inherited and increases risk of thrombosis & heparin insensitivity
AT III deficiency
heparin insensitivity
when you give heparin but the rise in PTT is less than expected
how is ATIII deficiency diagnosed?
anti-thrombin heparin cofactor assay <80%
autoimmune and more common in young females
autophospholipid antibody syndrome (APAS)
associated with libman-sacks endocarditis
APAS
its when the Ag-Ig complex clots in endocardium
associated w/ livido reticularis
APAS
when skin is purple
two associated with pregnancy loss or miscarrage
factor V leiden
APAS
can have rapid organ failure from catastrophic antiphospholipid syndrome
APAS
death
3 ways to diagnose APAS (hint they are all antibody assays)
anti-cardiolipid
anti- beta-2 glycoprotein I
lupis anticoagulant
