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Haematology > Thrombophilia > Flashcards

Thrombophilia Flashcards

1
Q

What is thrombophilia?

A

Thrombophilia is a group of disorders of the haemostatic mechanism, which are likely to dispose to thrombosis

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2
Q

What are some potential mechanisms of thrombophilia?

A
  • Increased coagulation activity
  • Decreased fibrinolytic activity
  • Decreased natural anticoagulant activity
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3
Q

What are hereditary thrombophilias?

A

Hereditary thrombophilias are a group of genetic defects in which affected individuals have an increased tendency to develop premature, unusual and recurrent thromboses

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4
Q

What are some causes of hereditary thrombophilia?

A
  • Factor V leiden
  • Prothrombin 20210 mutation
  • Antithrombin deficiency
  • Protein C deficiency
  • Protein S deficiency
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5
Q

Who is genetic screening for thrombophilia considered in?

A
  • Venous thrombosis <45 y/o
  • Recurrent venous thrombosis
  • Unusual venous thrombosis
  • Family history of venous thrombosis or thrombophilia
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6
Q

What management do all hereditary thrombophilia patients receive?

A

Advise on avoiding risk factors

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7
Q

What management option is given to thrombophilia patients in periods of known risk (e.g. pregnancy)

A

Short term prophylaxis to prevent thrombotic events

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8
Q

What management is given to thrombophilia patients in cases of thrombotic events?

A

Short term anticoagulation

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9
Q

What management option is given to thrombosis patients with recurrent thrombotic events?

A

Long-term anticoagulation

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10
Q

How do multiple risk factors increase risk of thrombotic events in thrombophilia?

A

Some people with hereditary thrombophilias may never have a thrombosis, as it is a multifactorial disease, so is usually caused by a combination of risk factors (Risk factors multiply, not add e.g. if contraceptive increases risk by 5x and obesity by 3x, then both together will increase risk by 15x)

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11
Q

What are some factors that increase risk of recurrent thrombosis?

A
  • History of previous thrombosis
  • Spontaneous thrombosis without transient risk factors
  • Family history
  • Thrombophilia screen results
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12
Q

What is a common cause of acquired thrombophilia?

A

Anti-phospholipid syndrome

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13
Q

What are some clinical features of anti-phospholipid syndrome?

A
  • Recurrent thromboses (Arterial and venous)
  • Recurrent foetal loss
  • Mild thrombocytopenia
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14
Q

Describe the pathophysiology of anti-phospholipid syndrome

A

Antibodies lead to a conformational change in ß2 glycoprotein 1 (A protein with unknown function in health), which leads to activation of both primary and secondary haemostasis and vessel wall abnormality

Anti-phospholipid antibodies are autoantibodies which have specificity for anionic phospholipids and which prolong phospholipid dependant coagulation tests in vitro

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15
Q

What other name is given to anti-phospholipid autoantibodies?

A

Lupus anticoagulants

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16
Q

How will APTT and PT be affected in anti-phospholipid syndrome?

A

This will cause a prolonged APTT but normal PT

17
Q

What are some conditions associated with anti-phospholipid syndrome?

A
  • Autoimmune disorders
  • Lymphoproliferative disorders
  • Viral infections
  • Drugs
  • Primary
18
Q

What anti-bodies may be present in anti-phospholipid syndrome?

A

Lupus anticoagulants (Anti-phospholipid)
Anti-cardiolipin antibodies
Anti-ß2 glycoprotein antibodies

19
Q

What are some venous thrombotic symptoms and signs of thrombophilia?

A
  • DVT/PE
  • Recurrent pulmonary emboli leading to pulmonary hypertension
  • Lived reticularis
20
Q

How does venous thrombosis lead to livedo reticularis?

A

Blood clots in capillaries lead to swelling of the venue’s, resulting in purple, net-like discolouration of the skin

21
Q

What are some arterial thrombotic symptoms and signs of thrombophilia?

A
  • Stroke or MI risk
  • Libman-Sacks endocarditis (Can further increase stroke risk)
22
Q

What are some non-specific signs and symptoms of anti-phospholipid syndrome?

A
  • Catastrophic APS - Multi-organ infarctions over a period of days to weeks
  • Miscarriage
  • Migraine
23
Q

When can miscarriages occur in anti-phospholipid syndrome?

A

Most commonly in second or third trimester, but can occur at any time in pregnancy

Recurrent early foetal loss (<10 weeks) may also occur

24
Q

How is an episode of thrombosis in patients with APS managed?

A

Treatment requires management of both primary and secondary haemostasis and thus arterial and venous thrombosis:

Acute LMWH then warfarin or aspirin prophylaxis

25
Q

How are patients who are positive for APS antibodies, but who have never had an episode of thrombosis managed?

A

No treatment required

26
Q

How are pregnant patients with a history of recurrent pregnancy loss treated in APSS?

A

LMWH and aspirin

27
Q
A

Haematology (32 decks)

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