Thrombophilias Flashcards

1
Q

Etiology of arterial clotting generally speaking

A

largely related to arterial platelet activation (rather than activation of clotting system in venous system)

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2
Q

Highest risk thrombophilias

A

Protein C and S
Antithrombin

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3
Q

Anticoagulant that will decrease antithrombin levels

A

heparin

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4
Q

1) APLS diagnostic criteria 2) what is high titer

A

Clinical criteria (vascular thrombosis or pregnancy mobordity)
1 of below lab criteria –
LA present in plasma, on 2 or more occasions at least 12 weeks apart, detected according to the guidelines of the International Society on Thrombosis and Haemostasis (Scientific Subcommittee on LAs/phospholipid-dependent antibodies).
aCL of IgG and/or IgM isotype in serum or plasma, present in medium or high titer (ie, ***>40 GPL or MPL, or >the 99th percentile), on 2 or more occasions, at least 12 weeks apart, measured by a standardized ELISA.
Anti-beta2 glycoprotein I antibody of IgG and/or IgM isotype in serum or plasma (in titer >the 99th percentile), present on 2 or more occasions, at least 12 weeks apart, measured by a standardized ELISA, according to recommended procedures.

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5
Q

Highest risk positive lab for APLS

A

lupus anticoagulant

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6
Q

Lab to check in APLS if concern that INR is inaccurate

A

chromogenic factor X

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7
Q

Antithrombin 3 mechanism

A

Inhibits thrombin from converting fibrinogen to fibrin

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8
Q

Cutoff for protein c deficiency

A

Less than 20

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9
Q

Protein c deficiency point and warfarin use for protein c deficiency

A

IF using warfarin, need to bridge with heparin for 5 days since will induce protein c deficiency

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10
Q

Acquired causes of protein c deficiency

A

Warfarin →
DIC →
Post surgery →
Liver disease (synthesized in the liver – hepatic congestion) →
Oral anticoagulant treatment

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11
Q

Acquired causes of protein s deficiency

A

Liver disease (synthesized by hepatocytes) →
Acute thrombosis →
Pregnancy or estrogen treatment → nearly all pregnant people have decreased, physiologic protein s
***Any comorbid illness that causes an acute phase response can lower the level of free protein S →
DIC →
Anticoagulants: Warfarin, NOAC treatment →
Nephrotic syndrome →
HIV

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12
Q

Most common factor V leiden mutation

A

RS6025 or F5 p.R506Q

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13
Q

Name of prothrombin gene mutation?

A

G20210A

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14
Q

Thromboprophylaxis for pregnant pts with history of obstetric APLS but no history of VTE

A

Prophylactic LMWH with each pregnancy (ASH)
ASA + prophylactic LMWH also an option

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15
Q

Management of pregnant APLS patient with VTE history

A

LMWH during pregnancy, transition back to warfarin postpartum

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16
Q

Antithrombin 3 pts heterozygotes or homozygotes?

A

They are all heterozygotes because homozygosity is incompatible with life

17
Q

What are the mild thrombophilias?

A

Heterozygous FVL
Heterozygous prothrombin gene mutation

18
Q

STrongest thrombophilias

A

1) APLS
2) Antithrombin
3) Protein C
4) Protein S
5) Homozygous FVL
6) homozygous prothrombin gene mutation
**But remember that there’s phenotypic variability among families

19
Q

Most common thrombophilias

A

FVL
Prothrombin 20210

20
Q

What effect does liver disease have on endogenous anticoagulants?

A

Lowers protein C, S, and AT

21
Q

What effect does warfarin have on endogenous anticoagulants?

A

Lowers protein C and S

22
Q

What effect does warfarin have on endogenous anticoagulants?

A

Lowers antihrombin

23
Q

What effect does acute thrombosis have on endogenous anticoagulants?

A

Lowers protein S and AT

24
Q

How do DOACS affect protein C and S?

A

false elevation

25
Clinical criteria satisfying sapporo criteria
vascular thrombosis OR pregnancy morbidity
26
What does data indicate about warfarin vs. NOACs for APLS?
Higher rate of failure w/ NOACs than warfarin for arterial thrombosis (CVA) in trials, VTE and bleeding rates the same
27
What does evidence indicate about prophylactic lovenox during pregnancy for pts with inherited thrombophilias?
No benefit for birth rates, increased bleeding
28
Should women with recurrent pregnancy loss be tested for thrombophilia?
No, data does not support