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Hem/Onc > Thrombophilia > Flashcards

Thrombophilia Flashcards

1
Q

thrombosis can be _____ or _____

A

arterial or venous

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2
Q

**What is Virchow’s triad?

A
  1. Damage to the vessel wall
  2. Slowing of blood flow leading to stasis
  3. Changes in the coagulability of blood (leading to the hypercoagulable state)
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3
Q

**What are the 2 key players in arterial thrombosis?

A

platelets and vessel wall injury/abnormalities

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4
Q

**What is an arterial thrombosis due to?

A

Due to the adhesion, activation, and then aggregation of platelets

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5
Q

in arterial thrombosis, ______ and _____ may induce the release of procoagulants from endothelial cells

A

Bacterial and viral infections

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6
Q

In arterial thrombosis, ______ results in endothelial cell damage due to multiple etiologies, such as activated leukocytes, chemokine release, TNF, etc

A

Inflammation

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7
Q

????? induces an immune response, causing increased leukocyte activation and circulation

A

Platelet activation and aggregation

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8
Q

Patients with _____ or _____ are at an increased risk for thrombotic events

A

infection or significant inflammation

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9
Q

**What is a venous thrombosis due to ?

A

Most commonly caused by the activation of the coagulation cascade, due to stasis or hypercoagulability

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10
Q

Give some examples of abnormalities of blood flow

A

Atrial Fibrillation
Left Ventricular Dysfunction
Immobility
Vessel Obstruction
Hyperviscosity (e.g. polycythemia vera)
Sickle Cell Anemia
Heart Valve Disease/Replacement
Indwelling Catheters

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11
Q

Give some examples of pts who would have a higher risk to clot/ hypercoagulability

A

Protein C or protein S deficiency
Activated protein C resistance
Antithrombin (AT) deficiency
Antiphospholipid antibodies
Malignancy (Tumor Cell Procoagulants)
High Dose Estrogen Therapy
Pregnancy

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12
Q

thrombophilic pts are at a higher risk of an (arterial/venous) thrombosis

A

higher risk of venous thrombosis

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13
Q

What are some risk factors of developing a blood clot?

A

increased age, smoking, obesity, DM, HTN, HLP

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14
Q

Draw the clotting cascade picture Prof Adkins really likes

A
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15
Q

Name some inherited causes of venous thrombosis

A

Factor V Leiden mutation
Prothrombin gene mutation
Protein S deficiency
Protein C deficiency
Antithrombin (AT) deficiency
Dysfibrinogenemia

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16
Q

______ is the most common cause of inherited thrombophilia, accounting for 40 to 50 percent of cases

A

Factor V Leiden

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17
Q

How is Factor V Leiden inherited?

A

autosomal dominant

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18
Q

Describe what Factor V Leiden means?

A

pt has factor V present it is just defective, aka it is abnormal

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19
Q

What is Factor V important in the clotting process?

A

Activation by thrombin results in the formation of factor Va, which then serves as a cofactor in the conversion of prothrombin to thrombin.

(Factor V does not recognize active protein C, so a clot with form but it will not be able to get broken down: increased coagulation and decreased anticoagulation)

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20
Q

What is a classic pt presentation of factor V leiden?

A

DVT at young age
Family history of blood clots

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21
Q

A factor V leiden pt PTT with be ??

A

shortened or normal

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22
Q

What are the diagnostic tests you should order to confirm factor V leiden. What is the gold standard?

A

Protein C functional assay

DNA testing—— expensive!

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23
Q

**Describe the process for a protein C functional assay test

A

take purified protein C, mix it with the person’s plasma and measure the PTT before and after

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24
Q

**the protein C functional assay test results:

factor V leiden the PTT will be _____

normal pt, the PTT will be _____

A

stay the same

prolonged

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25
Q

How do you treat factor V leiden?

A

there is nothing to give prophylaxis

treat the clot with heparin

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26
Q

What are the exceptions in which you would treat factor V leiden prophlaxis

A

-high risk surgery

  • pregnancy

-additional thrombophilic mutations

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27
Q

How is prothrombin gene mutations inherited?

A

autosomal dominant

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28
Q

prothrombin gene mutation it is a ______ which is synthesized in the liver and circulates with a half-life of approximately ______

A

vitamin K-dependent protein

3-5 days

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29
Q

Heterozygous carriers of the prothrombin gene mutation have ____ higher plasma prothrombin levels than normals. What is the gene?

A

30 percent

Prothrombin G20210A

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30
Q

Homozygous protein C deficiency causes ____

A

purpura fulminans neonatalis in newborns

31
Q

protein C deficiency puts a pt at risk for ____. What is the treatment?

A

warfarin-induced skin necrosis

stop warfarin; start vit K, heparin, protein C concentrate/ FFP

32
Q

Protein C deficiency imbalance between ____ and _____ increases your risk for ???

A

procoagulant and anticoagulant

5X increases your risk of venous thrombosis

33
Q

Protein C acts as an anticoagulant by regulating the activities of ____ and _____

A

activated factor VIII and activated factor V

34
Q

Patients with heterozygous protein C deficiency have _____ PT and _____ aPTT values.

A

normal

normal

35
Q

Patients with homozygous protein C deficiency have _____ coagulation tests consistent with DIC

A

abnormal

36
Q

Name some disorders that are associated with Vit K deficiency and protein C deficiency

A

including warfarin use, liver disease, malnutrition, DIC and nephrotic syndrome

37
Q

Name some instances where you would see acquired protein S deficiency

A

pregnancy, oral contraceptive use, sickle cell anemia, inflammation, nephrotic syndrome and with coumadin therapy.

38
Q

Protein S activity will be (increased/decreased) in patients receiving warfarin

A

decreased

39
Q

Name some pt populations in which the protein S levels are decreased

A

pregnant women
oral contraceptives
liver disease
IBD
nephrotic syndrome

40
Q

Name the 5 factors that antithrombin inactivates

A

thrombin
9a
10a
11a
12a

41
Q

When does the initial clinical manifestations of Antithrombin III deficiency occur spontaneously in _____ (42%)

A

pregnancy

42
Q

Where are the most common sites for a clot if you have a antithrombin III deficiency?

A

deep veins of the leg

mesenteric veins

43
Q

What is the puerperium defined as ? What are you at a high risk for?

A

6 week period following delivery

higher risk of blood clot than pregnancy itself

44
Q

What are some risk factors for thrombosis in pregnancy

A

Age (below 18 or greater than 35)
Cesarean delivery
Prolonged immobilization
Obesity
Previous thromboembolism
Coexistent thrombophilia

45
Q

Why is the left leg more prone to thrombosis compared to the right?

A

Compression of the left iliac vein by the crossing right iliac artery

46
Q

____ is an acquired hypercoagulable condition that results in recurrent venous or arterial thrombosis and/or pregnancy mortality

A

antiphospholipid syndrome

has arterial and venous blood clots

think pregnancy

47
Q

Antiphospholipid Syndrome requires the presence of ????

A

autoantibody known as an antiphospholipid antibody (aPL) in the plasma

48
Q

Antiphospholipid Syndrome is most commonly associated with ____

A

Lupus

or other underlying autoimmune disease

49
Q

What are the 2 major clinical manifestations of Antiphospholipid Syndrome?

A

thrombotic events (usually DVT, arterial occlusions most common in cerebrovascular circulation)

pregnancy complications (usually around the 10 week mark)

50
Q

Name some additional clinical manifestations of antiphospholipid syndrome?

A

Cardiac valvular disease
Pulmonary hypertension
Avascular necrosis of the hip
Cutaneous ulcers and/or Livedo reticularis
Adrenal insufficiency
Cognitive deficits
Thrombocytopenia
Ocular Complications

51
Q

What is this picture describing? What syndrome is it associated with?

A

Libman-Sacks verrucous endocarditis

Antiphospholipid syndrome

52
Q

Under _____ or ____ the emboli may travel to the systemic arterial circulation

A

PFO (patent foramen ovale)

ASD (atrial septal defect)

53
Q

What is the classic clinical presentation of DVT?

A

dull aching pain
swelling, pain, and discoloration in the involved extremity
usually unilateral
warm and erythema

54
Q

What is the Homan’s sign? Is it reliable?

A

hold the pt’s inner thigh and strongly dorsiflex the foot, positive sign if it is painful

55
Q

What are some s/s of pulmonary embolism?

A

shortness of breath – abrupt onset
tachypnea
pleuritic chest pain
cough, hemoptysis
pleural effusion
pulmonary infiltrates
Right-sided heart failure
hypotension
syncope
sudden death (10% are fatal)

56
Q

**What is the Wells score range for a DVT?

A

High: 3 or greater
Moderate: 1-2
Low: 0 or less

57
Q

**What is the Wells score range for a PE?

A

high: greater than 4
low: 0-4

58
Q

What are the top 2 choices for diagnostic testing if you are considered about a DVT?

A

Compression Venous Doppler Ultrasonography (approach of choice in most circumstances)

D-Dimer serum testing

59
Q

What does a D-Dimer test for?

A

Byproduct of the degradation of blood clots, specifically, of the fibrin within a thrombus.

60
Q

What does an elevated D-dimer suggest?

A

there is a thrombus in the body that is being degradated

61
Q

What instances would a D-dimer may be a false positive?

A

Pregnancy, infection, cancer, recent surgery, inflammatory disease processes

62
Q

____ Technique used to determine the speed of blood flow through arteries and veins

A

doppler ultrasound

63
Q

If your pt has a low probability of a PE, what should you order? High probability?

A

if low probability - D-Dimer

High probability - Imaging
CT scan w/ IV contrast

64
Q

What do you order if you have a high suspicion of a PE but the pt is allergic to contrast?

A

V/Q scan

ventilation/perfusion scan

65
Q

What is the treatment for DVT?

A

Anticoagulant therapy is indicated for patients with DVT, since pulmonary embolism will occur in approximately 50%

heparin and warfarin

OR

Pradaxa, Xarelto, Eliquis, or Savaysa by themselves

66
Q

If you decide to go the heparin/warfarin route, what is the treatment protocol?

A

heparin for 5 days and d/c once INR is between 2-3

Warfarin for min of 3 months

67
Q

When is a Inferior Vena Caval filter indicated?

A

anticoag are contraindicated

high risk of proximal vein thrombosis or PE

pts who have recurrent thromboembolism despite adequate anticoagulation

68
Q

What screening tests should you order for patients who are in a hypercoagulable state

A

Antithrombin
Protein C
Protein S
Factor V Leiden

Prothrombin gene mutations
Antiphospholipid antibodies

69
Q

**Patient has abnormal coag studies or has had a thromboembolic event, when should you schedule repeat testing?

A

repeat in 2-3 months

70
Q

_____ reduces protein C and protein S levels

A

Warfarin

71
Q

____ can reduce antithrombin levels

A

Heparin

72
Q

???? causes a reduction in the levels of any of the natural anticoagulants (protein C, protein S, antithrombin)

A

acute medical illness aka sepsis

73
Q

When would long term anticoag therapy be indicated for pts with a history of PE

A

2 or more spontaneous events for all high-risk patients

1 spontaneous life-threatening thrombosis

1 spontaneous thrombosis at unusual sites (mesenteric or cerebral venous)

1 spontaneous thrombosis in association with the antiphospholipid antibody syndrome, active cancer, antithrombin III deficiency, or more than one genetic or allelic abnormality

74
Q
A

Hem/Onc (14 decks)

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