Section 9 Factor deficiencies Flashcards
Hemophilia A
factor VIII (C)
most common def in US
X linked recessive in males
females asympt
30% new cases have no family hxt
Clinical bleeding
Hemophilia A
ref range
lab results
ref range 50-150%
mild 5-30
moderate 1-5
severe <1
PFA norm
PT norm
APTT prolonged
confirm w factor assay
Aquired VIII deficiency
DIC: using VIII
Liver disease: unable to produce
Hemophilia B
IX deficiency
royal disease
2nd most common
x linked recessive in males
females some bleeding w levels of 35%
bleeding less severe than A
Hemophilia B labs
PFA norm
PT norm
APTT prolonged
factor assay to confirm
Aquired hemophilia B
DIC/Liver disease
Vit K deficiency
Oral Anticoags
Afibrinogenemia
absence or low
hereditary low recessive
Bleeding
Hypofibrinogenemia
<100mg
hereditary recessive
Bleeding
Dysfibrinogenemia
functionally abnormal
both bleeding and thrombosis
Hyperfibrinogenemia
APR
stress increases fibrinogen can lead to thrombosis
Prothrombin Deficiency
common?
what kind of deficiency?
males vs females?
homozygous
heterozygous?
II
RAREST congenital deficiency
recessive
equal in males/females
homozygous bleeding
hetero - asympt
Aquired II deficiency
DIC/LIVER
Vit K def, oral anticoags
V deficiency
frequency?
homozygous causes?
no…
aquired:
1/million
homozygous bleeding
no cryo - not adequet V
aquired: Dic/Liver
VII deficiency
frequency?
homozygous symptoms?
what to suppliment?
Aquired
1/500,000
homozygous bleeding
Vit K suppliment
Aquired: vit K, oral anticoag, DIC, liver
X deficiency
heterozygous causes
homozygous causes
Aquired
special thing?
hetero mild bleeding
homo bleeding
Aquired: Vit K, oral anti, Liver, DIC
AMYLOIDOSIS - starch like in organs absorb X
XI deficiency
disease correlation?
high in what population
homozygous causes
special feature?
decreased…..what deficiency pathway
aquired?
hemophilia C
1/100,000 general population
high in jewish population
homozygous bleeding
ONLY CONTATC FACTOR THAT CAUSES BLEEDING
dec TAFI/ intrinsic cascade deficiency
DIC/LIVER
XII deficiency
frequency?
what is increased?
causes? (because…)
aquired
common
recessive
APTT increased, no bleeding problems, exception
thrombosis problems (deficient activation of plasmin)
Aquired: DIC/ liver
PK deficiency
frequency? what group?
what is increased
causes?
genetics?
RARE - in black families
APTT increased
no bleeding problems
thrombosis
auto dom and recessive
HMWK deficiency
symptoms?
what is prolonged?
causes?
recessive
asympt
APPT prolonged
thrombosis
XIII deficiency
common?
um
poor
bru
PT val
APTT val
what test?
Rare
umbilical stump bleeding
poor wound healing
bruises resolve slow/scars
PT normal
APTT Normal
Urea sol lysis
DIC
acute…..in what
causes
consumption of
aquired
acute overwhelming of coag, 2nd fibrinolysis
bleeding and thrombosis
consumption of factors and plts
Fibrinolysis lab testing
D DIMER
PLTS
Smear
D dimer increased/+
Plts decreased
smear: schistocytes
Fibrinogenolysis lab
Ddimer
plts
smear
d dimer NEGATIVE
plts normal
smear normal
Chronic DIC
seen in?
less….more…
speed?
aquired
compensated
seen in cirrhosis/metastatic cancer
less critical bleeding, more thrombosis
slowly, body can compensate better
Liver disease
liver produces….
deficiency of…
impaired
accumulation of?
causes?
liver produces all factors, plasminogen, AT-III, alpha,2 antiplasmin
def of all factors/inhibitors/dysfunctional
impaired clearance
accumulation of plasminogen activators (DIC)
bleeding/thrombosis
Renal disease
causes?
nephritic syndrom:
lose…
DIC causes?
bleeding/thrombosis
nephritic syndrom: uremic pts decrease plts, impaired
lose AT/protein C
DIC: renal damage
Vit K deficiency
II, VII, IX, X
protein C
Massive transfusion
loss of?
not usually a ….?
can cause what in what group? what do you give them?
T…
loss of labile factors V, VIII
not usually a bleeding problem
citrate toxicity - newborns/massives
give Ca++
TP: plts lose viability
