clotting disorders Flashcards
What is hemophilia A
Congenital factor 8 deficiency
What is the most common hemophilia
Hemophilia A
Which gender typically shows signs of hemophilia A
Males (X-linked disorder)
Is hemophilia a clotting disorder or a bleeding disorder
Clotting disorder
What is hemophilia B
Congenital 9 deficiency
*males mostly affected
What occurs in the body for hemophilia to be a clotting disorder
Lack of factor 8 or 9 disrupt the cascade which causes a weak platelet plug
= causes weak/delayed fibrin clot
What disease is also known as Christmas disease
hemophilia B
What is hemophilia C
Factor 11 deficiency
*not X-linked
What is a common clinical presentation of hemophilia
*mulitple episodes of prolonged bleeding
-hemarthrosis (ankles, knees, elbows)
What is a target joint
4 or more bleeds within 6 months
Which lab measures the intrinsic pathway
PTT
Which lab measures the extrinsic pathway
PT
What is DDAVP
Desmopressin
What is the purpose of giving DDAVP
Synthetic vasopressin to stimulate VWF production
When can DDAVP be used with hemophilia
Only for mild or moderate disease
If a patient develops factor 8 antibodies, what can you give them
factor 7
What is the most common inherited coagulation disorder
Von Willebrands disease (vWF on chromosome 12)
Which gender shows more symptoms of vWF
Females because of menstruation and pp bleeding
What is the role of vWF
Activate X–> Xa
Promotes platelet aggregation
Bind to factor 8 to extend its life
What is the most severe form of vWF disease
Undetectable (Type 3)
How does vWF present
Mucocutaneous bleeding
heavy menstruation
What is the definitive diagnosis for VWD
Looking at clotting factors
How do you treat type 1 VWD
DDAVP (desmopressin)
What causes a primary hyper coagulable state
Impairment in antithrombin, factor 10, and protein C and S
Prothrombin gene mutation
Anti- phospholipid antibody syndrome
What are some acquired / secondary causes of hyper coagulable States
Pregnancy
Malignancy
Surgery / trauma
Polycythemia vera
What are natural anticoagulants
Antithrombin
protein C&S
What is the role of protein C & S
Block factor 5 and 8
What is the role of antithrombin
block factor 10 and thrombin
how do hyper coagulable states present
DVT
PE
MI
Stroke
pregnancy loss
What is antiphospholipid antibody syndrome super relevant for
Pregnancy and pregnancy loss
What are some risk factors of antiphospholipid syndrome
Hep B
Hep C
Lyme
What is thrombocytopenia
Low platelet count
At what point will you see spontaneous bleeding in thrombocytopenia
10-20K
How does thrombocytopenia present
Excessive/repetitive bleeding
excessive bruising
Bleeding at weird sites
Excess mucosal bleeding
petechiae
How would you workup thrombocytopenia
CBC with platelet count
Peripheral smear
Platelet function analysis
CMP (kidney function)
D-dimer (concurrent thromboses)
What are examples of concurrent thromboses with thrombocytopenia
DVT
HIT
DIC
What is DIC classically associated with
Gram negative organisms
What is the most common cause of DIC
Sepsis
What is occurring with DIC
Coagulation and fibrinolysis pathways in overdrive
What is consumption coagulopathy
Clots everywhere, leads to organ ischemia, uses up platelets and other clotting factors and other areas of the body start to bleed from minor injuries
What is Acute DIC
Quick / larger trigger
-sepsis or trauma
*life threatening
What is chronic DIC
Continuous or intermittent small triggers
-malignancy
Body can compensate
-liver clearance of FDPs
-increased production
Where are platelets sequestered
Spleen
What results will you see in labs with DIC
Thrombocytopenia
decreased fibrinogen
increased D-dimer
What is the treatment of DIC
Treat underlying condition
Hemodynamic stabilization
Whole blood transfusion
What is TTP
Thrombotic thrombocytopenia pupura
What is thrombotic thrombocytopenia purpura
Thrombotic microangiopathy
What are the risk factors for TTP
African ancestory
Obesity
Certain HLA subtypes
What other things are associated with TTP
Renal, GI, CNS involvement
URI/ flu-like illness
What will be seen on CBC with TTP
Severe hemolytic anemia and thrombocytopenia in otherwise healthy person
What is the plasmic score in someone with TTP
6+
What enzyme should be checked with TTP
ADAMTS13
What is the treatment for hereditary TTP
Plasma infusion
What is the treatment with acquired TTP
Urgent initiation of plasm exchange
(plasmapheresis)
If someone has refractory TTP, how do you treat them
immunosuppression with steroids
How many plasma exchanges typically need to happen to normalize platelet count in someone with TTP
11
What is HUS
hemolytic-uremic syndrome
What is the difference between HUS and TTP
HUS typically happens in children
What is the prodrome for HUS
bloody diarrhea
What typically causes HUS
Shiga-toxin (E.coli)
antibiotics
antidiarrheals
What will be seen one workup with HUS
Hemolytic anemia
Thrombocytopenia
Renal injury
What is the treatment for HUS
Supportive care
*Dialysis if severe renal impairment
What is ITP
Idiopathic thrombocytopenia purpura
-Low platelet count in older adults (>6months)
What gender is more effected by ITP
Females
What is the difference between primary and secondary ITP
Primary: no identifiable trigger
Secondary: CA or infection (less likely)
How will someone with ITP typically present
Asymptomatic
Fatigue
Petechiae / purpura
Epistaxis
hematomas
How do you dx ITP
Diagnosis of exclusion
What 2 diseases should be considered with someone who has ITP
HCV
HIV
If someone with ITP is bleeding extensively, what treatment can be used
High dose steroids
IVIG
Platelet transfusion
what causes HIT
adverse reaction to heparin
What is type 1 HIT
non-immune related
-can continue heparin
*more common HIT
What is type 2 HIT
Immune mediated
antibody production (happens day 5-14)
**More severe HIT
Which form of heparin will more commonly cause HIT
UFH»>LMWH
Why is UFH more likely to cause HIT
Bigger molecule
more antigenic
What happens to platelets in someone with HIT
Unexplained drop in platelet count in patient on heparin
Steady drop, no fluctuation
Stable hgb/hct
What are the 4 Ts for a HIT score
Thrombocytopenia
Timing of platelet count fall
Thrombosis or other sequela
OTher causes of thrombocytopenia
How do you treat HIT
Discontinue heparin
Start alternate anticoag
Evaluate for HIT with PF4
–> If + confirm with serotonin assay
What drug is a contraindication in someone with HIT
Coumadin
*precipitate skin necrosis and gangrene
What is thrombocytosis
Elevated number of platelets
-megakaryocyte disorder
What gene mutation is common with thrombocytosis
JAK2
What is often associated with thrombocytosis
Malignancy
How will thrombocytosis present
Often asymptomatic
Thromboses in weird sites
Abnormal bleeding
Splenomegaly
What is erythromelalgia and what is it associated with
Painful burning of the hands
-can present with thrombocytosis
What platelet count is indicative of thrombocytosis
> 400,000
What is the treatment for thrombocytosis
Platelet count <500,000 is goal
1st line: Oral hydroxyurea
plateletpheresis if emergent platelet lowering is required
