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Boards.CP.Coagulation > Thrombophilia > Flashcards

Thrombophilia Flashcards

1
Q

The optimal laboratory evaluation for thrombophilia taks place ______ following the acute episode and ____ following cessation of anticoagulant therapy.

A

> 2 months

>14 days

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2
Q

What are the most common Genetic tests for thrombophilia?

A
  • Prothrombin 20210 mutation testing

- Factor V Leiden mutation testing

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3
Q

What is Factor V Leiden?

A

Activated protein C (APC) resistance

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4
Q

What is the normal function of activated protein C (APC)?

A

Inhibits coagulation by degrading:

-aFV (5) and aFVIII (8)

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5
Q

Factor V Leiden (APC resistance):

  • Gene
  • Mutation
  • Inheritance
  • Effect
A
  • Factor V gene
  • Glutamine for Arginine at position 506 (R506Q)
  • Autosomal dominant
  • Factor V Leiden is Resistant to cleavage by APC
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6
Q

Factor V Leiden is responsible for what percentage of cases of hereditary thrombophilia?

A

50%

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7
Q

Increased risk of thrombosis in Factor V Leiden:

  • Heterozygotes
  • Homozygotes
A
  • 5-10X in Heterozygotes

- 50-100X in Homozygotes

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8
Q

What is the mutation in Prothrombin Variant?

-Results in what

A

G20210A of the Prothrombin gene

-Increased levels of Prothrombin

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9
Q

What are the most common complications in Factor V Leiden? (2)

A
  • Venous Thromboembolism

- Recurrent miscarriage

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10
Q

What are the most common complications in Prothrombin G20210A mutation? (3)

A
  • Venous Thromboembolism
  • Cerebral Vein Thrombosis*
  • Miscarriage

*Particularly high risk for Cerebral Vein Thrombosis

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11
Q

What factors are inhibited by Antithrombin (AT)? (5)

A
  • 2
  • 9a
  • 10a
  • 11a
  • 12a
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12
Q

What does heparin do to Antithrombin activity?

A

Enhances it

*basis for the anticoagulant effect

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13
Q

What is the role of Protein S?

A

Cofactor of Protein C*

*Protein C degrades activated F5/F8 - Inhibits coagulation

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14
Q

FactorXII (12) deficiency lab findings. (2)

A
  • Prolonged aPTT (Marked)

- Mixing study initially corrects, but is prolonged following incubation

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15
Q

The antiphospholipid (APL) syndrome encompasses what syndromes?

A
  • Lupus Anticoagulant (LAC) syndrome

- Anticardiolipin Antibody (ACA) syndrome

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16
Q

Which is more common Lupus Anticoagulant (LAC) syndrome or Anticardiolipin Antibody (ACA) syndrome?

A

ACA

17
Q

Which causes prolonged aPTT - Lupus Anticoagulant (LAC) syndrome or Anticardiolipin Antibody (ACA) syndrome?

A

LAC

18
Q

What features are unique to Anticardiolipin Antibody (ACA) syndrome? (4)

A
  • Premature Coronary Athersclerosis
  • Livedo Reticularis
  • Postpartum syndrome
  • Warfarin Resistance
19
Q

LAC tests are what?

A

Clot Based Assays

-Prolong phospholipid dependent clotting times, with failure to correct in 1:1 mix

20
Q

ACA tests are what?

A

ELISA based assays

-High titer IgG ACA is significant

21
Q

What conditions cause a false positive ACA test? (3)

A
  • Syphilis
  • Q fever
  • HIV infection

*Usually IgM ACA

22
Q

Type I Heparin Induced thrombocytopenia (HIT):

  • Manifestations
  • Incidence
  • Immune-mediated?
A

Early and Mild Thrombocytopenia

  • Plt decrease by day 1/2
  • Plt count does NOT decrease beneath 50% baseline
23
Q

Type I Heparin Induced thrombocytopenia (HIT):

  • Incidence
  • Immune-mediated?
A
  • 5% of heparinized patients

- NOT immuned mediated

24
Q

Type 2 Heparin Induced thrombocytopenia (HIT):

  • Onset
  • Effect (2)
  • Incidence
  • Immune Mediated?
A
  • Days 5-14
  • Plt count <50% of baseline
  • High Risk of Thrombosis
  • 1% of Heparinized pts
  • Immune mediated
25
Q

Types of Thrombosis in Type 2 HIT. (4)

A
  • Arterial Thrombosis
  • Venous Thrombosis
  • Microvascular Thrombosis*
  • Skin Necrosis/Erythematous Plaques at Heparin Injection site

*Coumadin (Warfarin) Contraindicated in HIT

26
Q

Risk factors for Type 2 HIT. (2)

A
  • Surgery (3-5X)

- Females (2X)

27
Q

Diagnostic Test for Type 2 HIT?

A

Anti-PF4 Antibody test by ELISA

-90% sensitive/specific

28
Q

What are the confirmatory tests for Type 2 HIT? (2)

A
  • Serotonin Release Assay (SRA)

- Heparin Induced Platelet Aggregation Assay HIPA)

29
Q

What are the types of Thrombotic Thrombocytopenia Purpura (TTP)? (3)

A
  • Idiopathic
  • Secondary TTP (pregancy, BMTx, Meds)
  • Familial (Upshaw-Shulman syndrome)
30
Q

Thrombotic Thrombocytopenia Purpura (TTP) Pentad.

A
  • Thrombocytopenia
  • Microangiopathic Hemolytic Anemia
  • Neurologic changes
  • Renal abnormalities
  • Fever
31
Q

Thrombotic Thrombocytopenia Purpura (TTP) lab findings. (3)

A
  • Platelets <20,000
  • Schistocytes (Numerous)
  • High serum LDH (>1000 IU/dL)
32
Q

Pathophysiology of TTP.

A

Deficient ADAMTS-13

-Abnormally large circulating multimers of vWF

33
Q

What enzyme is responsible for cleaving large vWF multimers into smaller ones?

A

ADAMTS-13

34
Q

What is the treatment for TTP?

-Contraindicated

A

Daily plasmapheresis with replacement of FFP

-Platelet transfusions are CONTRAINDICATED

Boards.CP.Coagulation (7 decks)

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