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Maternal Fetal Medicine > Inherited Thrombophilia > Flashcards

Inherited Thrombophilia Flashcards

1
Q

Factor V Leiden heterozygote

List:
prevalence
VTE risk without prior VTE
VTE risk with prior VTE
percentage of all VTE
A

prevalence 1-15%
VTE risk without prior VTE 0.5-3.1%
VTE risk with prior VTE 10%
percentage of all VTE 40%

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2
Q

Factor V Leiden homozygote

List:
prevalence
VTE risk without prior VTE
VTE risk with prior VTE
percentage of all VTE
A

prevalence <1%
VTE risk without prior VTE 2.2-14%
VTE risk with prior VTE 17%
percentage of all VTE 2%

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3
Q

Antithrombin deficiency

List:
prevalence
VTE risk without prior VTE
VTE risk with prior VTE
percentage of all VTE
A

prevalence 0.02%
VTE risk without prior VTE 0.2-11.6%
VTE risk with prior VTE 40%
percentage of all VTE 1%

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4
Q

Protein C deficiency

List:
prevalence
VTE risk without prior VTE
VTE risk with prior VTE
percentage of all VTE
A

prevalence 0.2-0.4%
VTE risk without prior VTE 0.1-1.7%
VTE risk with prior VTE 4-17%
percentage of all VTE 14%

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5
Q

Protein S deficiency

List:
prevalence
VTE risk without prior VTE
VTE risk with prior VTE
percentage of all VT
A

prevalence 0.03-0.13%
VTE risk without prior VTE 0.3-6.6%
VTE risk with prior VTE 0-22%
percentage of all VTE 3%

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6
Q

What is the MOA for FVL deficiency?

A

Mutation renders FVL refractory to proteolysis by activated protein C

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7
Q

What is the MOA for Prothrombin G20210A?

A

The prothrombin G20210A mutation is a point mutation that results in elevated circulating prothrombin levels

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8
Q

Prothrombin gene heterozygote

List:
prevalence
VTE risk without prior VTE
VTE risk with prior VTE
percentage of all VT
A

prevalence 2-5%
VTE risk without prior VTE 0.4-2.6%
VTE risk with prior VTE >10%
percentage of all VTE 17%

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9
Q

Prothrombin gene homozygote

List:
prevalence
VTE risk without prior VTE
VTE risk with prior VTE
percentage of all VT
A

prevalence <1%
VTE risk without prior VTE 2-4%
VTE risk with prior VTE >17%
percentage of all VTE 0.5%

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10
Q

Factor V Leiden/Prothrombin double heterozygote

List:
prevalence
VTE risk without prior VTE
VTE risk with prior VTE
percentage of all VT
A

prevalence 0.01%
VTE risk without prior VTE 4-8.2%
VTE risk with prior VTE >20%
percentage of all VTE 1-3%

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11
Q

What is the MOA for Protein S Deficiency?

A

2 causes:

a silenced gene or a mutation that results in reduced free protein S antigen levels and activity

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12
Q

Thrombophilias(2) associated with neonatal purpura fulminans

A

Protein C Deficiency and homozygous protein S deficiency

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13
Q

Do Methylenetetrahydrofolate Reductase Mutations increase your risk for VTE?

What does this condition cause?

A

No

Hyperhomocysteinemia

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14
Q

Which of the following are associated with inherited thrombophilias?

Stillbirths
Preeclampsia
Fetal Growth Restriction
Placental Abruption

A

None

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15
Q

Who are the candidates for thrombophilia evaluation?

A
  1. Personal history of VTE, with or without a recurrent risk factor, and no prior testing.
    1. First-degree relative (parent or sibling) with history of high-risk inherited thrombophilia
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16
Q

What are the laboratory tests for thrombophlia evaluation?

A 
factor V Leiden mutation
prothrombin G20210A mutation
antithrombin
protein S deficiency
protein C deficiency

Ideally, 6 weeks after a thrombotic event, not pregnant or taking anticoagulation/hormonal therapy

17
Q

In the nonpregnant state, what is the value of free protein S consistent with protein S deficiency?

A

< 55%

18
Q

Prophylaxis is recommended when the risk of VTE exceeds ____%

A

3

19
Q

What are the thrombophilias associated with a high risk of VTE?

A

FVL homozygotes
Prothrombin gene homozygotes
FVL/PT double heterozygotes

Risk with no prior VTE 4-5 % –> anticoagulate
prior VTE 15-20% –> anticoagulate

20
Q

When do you discontinue prophylactic anticoagulation in the postpartum period?

What is the exception?

A

After 6 weeks

Life-long anticoagulation for women with recurrent VTEs

21
Q

What are the tests that are reliable during pregnancy to test for Inherited Thrombophilias?

A

FVL mutation [activated protein C resistance assay]
[if abnml, DNA analysis]
Prothrombin G20210A mutation [DNA analysis]
Protein C deficiency [activity <65%]
Antithrombin Deficiency [activity <55%]

*not Protein S deficiency [functional assay <55%]

22
Q

In the second trimester, below what value of free protein S is consistent with protein S deficiency?

A

< 30%

23
Q

In the third trimester, below what value of free protein S is consistent with protein S deficiency?

A

< 25%

24
Q

Which of the following conditions may be evaluated during pregnancy?

Factor V Leiden mutation
Prothrombin G20210A mutation
Antithrombin deficiency
protein S deficiency
protein C deficiency
A

All but Protein S deficiency

Factor V Leiden mutation
Prothrombin G20210A mutation
Antithrombin deficiency
protein S deficiency
protein C deficiency
25
Q

Which of the following conditions may be evaluated during an acute thrombosis?

Factor V Leiden mutation
Prothrombin G20210A mutation
Antithrombin deficiency
protein S deficiency
protein C deficiency
A

Factor V Leiden mutation

Prothrombin G20210A mutation

26
Q

Which of the following conditions may be evaluated while on anticoagulation?

Factor V Leiden mutation
Prothrombin G20210A mutation
Antithrombin deficiency
protein S deficiency
protein C deficiency
A

Factor V Leiden mutation

Prothrombin G20210A mutation

27
Q

What are the high risk thrombophilias?

A

Factor V Leiden homozygous mutation
Prothrombin G20210A homozygous mutation
Antithrombin deficiency
Double heterozygotes: FVL/PT

28
Q

Adjusted dose LMWH should be held ___ hours before anticipation of neuraxial anesthesia

A

24

29
Q

Prophylactic dose LMWH should be held ___ hours before anticipation of neuraxial anesthesia

A

12

30
Q

UFH and LMWH should be restarted ____ hours following vaginal delivery and ____ hours following a cesarean delivery.

A

4-6 ; 6-12

31
Q

What thrombophilia is due to a mutation renders that renders FVL refractory to proteolysis by activated Protein C

A

Factor V Leiden deficiency

Maternal Fetal Medicine (1 decks)

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