Thrombophilia Flashcards

1
Q

Thrombosis

A

inappropriate formation of plt or fibrin clots that obstruct blood vessels

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

embolism

A

piece of thrombotic material that breaks off from the thrombus & travels through circulatory system to be lodged at a distant site

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

types of thrombus formations (2)

A

arterial & venous

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

Arterial Thrombi

A

formed in arteries, composed primarily of plts & fibrin

80% of AMI are due to arterial thrombosis

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

Venous thrombi

A

strong relation w/ pulmonary embolism & venous thrombosis in lower limbs

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Hereditary Thrombophillia

A

antithrombin deficiency
Protein C deficiency
Protein S deficiency

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

Antithrombin deficiency

A

without this heparin will not work!
autosomal dominant
2 types - quantitative vs qualitative
decreased inhibition of Factor Xa & thrombin

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

Heterozygous Antithrombin

A

reduced AT activity of 30-60%

thrombotic issues increase w/ age

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

Homozygous type 1 antithrombin deficiency

A

incompatible with fetal survival

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

Homozygous type 2 antithrombin deficiency

A

associated w/ life threatening thrombotic problems

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Specific tests for antithrombin deficiency

A

assays: progressive AT & Heparin cofactor*****

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

Protein C Deficiency

A

vitamin K dependent inhibitor of coagulation
protein C is converted to an active form by thrombin bound to endothelial cells which degrades factor Va & VIIIa (!!!!)
autosomal dominant
2 types

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

Protein C deficiency type 1

A

more common

decrease of functional activity to 40-60% & decrease of PC antigen levels

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

Protein C deficiency type 2

A

decrease in functional activity levels but normal PC antigen levels

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

Protein C deficiency specific lab tests:

A

PC levels in plasma
Antigen assay
functional activity assay

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

Protein S Deficiency

A

vit K dependent protein
inactivates factor Va & VIIIa (!!)
autosomal dominant

17
Q

Protein S deficiency specific lab tests

A

PS concentration in plasma
total PS assay
Free PS assay

18
Q

Activated Protein C Resistance

A

see diminished ability of APC (activated protein C) to destroy FVa during its normal inhibitory functions
point mutation in FVgene which makes it resistant to APC inactivation

19
Q

Activated Protein C Resistance Specific lab test

A

screening-clot based tests

confirmatory -PCR*****

20
Q

Prothrombin gene mutation 20210

A

point mutation in the prothrombin gene
associated w/ a mild elevation of prothrombin levels
autosomal dominant
PCR -confirmatory

21
Q

Heparin Cofactor II deficiency

A

autosomal dominant

many individuals asymptomatic

22
Q

Tissue Factor Pathway Inhibitor Variant

A

natural inhibitor of coag that directly neurtalizes FXa & neutralizes the tissue factor-VIIa complex
gene mutation reports increase risk of venous thrombi embolisms

23
Q

ABO blood groups B & A1

A

have higher levels of vWF & FVIII than O type

24
Q

Hyperhomocysteinemia

A

severe inborn error of metabolism
associate w/ premature atherosclerosis & venous & arterial thrombosis
less sever elevations have been implicated in VTE

25
Q

Dysfibrinogenemia

A

various range of symptoms
decreased fibrinolysis due to:
fibrin resistance to lysis by plasminogen
reduced plasminogen activation
mutated fibrinogen which forms high fiber density clots

26
Q

Elevated factor VIII & vWF

A

increase risk of thrombotic disease

specific polymorphism of FVIII & vWF genes

27
Q

Factor XII & Thromboembolic disease

A

FXII deficiency, prolonged APTT

no bleeding

28
Q

Acquired fibrinolytic defects

A

have impaired fibrinolytic function

increased plasma PAI-1 most common

29
Q

Antiphospholipid antibody syndrome (APLS)

A

most common cause of acquired thrombophilia****
includes lupus anticoagulant
prolong in vitro coag studies**

30
Q

Heparin treatment

A

unfractionated heparin*
injection only (IV or subQ)
doesn’t have direct effect on blood coagulation but potentiates formation of complexes between ANTITHROMBIN & factors : thrombin, XIIa, XIa, Xa, IXa, VIIa
ergo it increases coag inhibition

31
Q

What test monitors Heparin

A

APTT

32
Q

LMWH

A

can be administered subcutaneously
typically does not require routine lab monitoring but can use factor Xa
effect is to catalyze the interaction between AT and F- Xa.

33
Q

Heparin complications

A

bleeding & association with HIT

34
Q

Coumadin/ Warfarin

A

oral anticoagulant!
vitamin K antagonist
does not leat to ‘instantaneous’ anticoagulation
must be administered 4-5 days before therapeutic anticoag achieved

35
Q

Test to monitor Coumadin/Warfarin

A

PT