Thrombophilia Flashcards

(45 cards)

1
Q

What is the most common thrombophilia?

A

Factor V Leiden, an autosomal dominant condition which presents with DVT in childhood or young adulthood.

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2
Q

What is the role of protein C and S?

A

Protein C, together with its cofactor protein S, inactivates clotting factors V and VIII. They are vitamin K dependen

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3
Q

What are the coagulation studies?

A

PTT time
PT time
INR ratio
TT time

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4
Q

What does PTT time include?

A

PTT time, which includes antithrombin, Protein C and S

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5
Q

What is thrombin time?

A

Time taken for fibrinogen to convert to fibrin

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6
Q

What are the principles of thrombophilia testing?

A

Is not recommended after a first event as finding a genetic basis of thrombophilia does not accurately predict the risk of developing PE or DVT
May be considered if venous thromboembolism (VTE) occurs in an unusual site (eg. mesenteric vein or sagittal sinus), although this is not evidence-based
Should not be performed in the acute phase of a VTE or while taking anticoagulation due to false result but there are exception

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7
Q

When can testing for VTE while on anticoagulation be performed?

A

Factor V Leiden
Prothrombin gene mutation§

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8
Q

What is antiphosphopilipid syndrome

A

Antiphospholipid syndrome is an acquired autoimmune thrombophilia which is associated with arterial or venous thrombosis and recurrent miscarriages. The common sites of thrombosis are the lower limbs and cerebral arterial circulation.

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9
Q

Which antibodies is anti-phospholipid syndrome associated with?

A

Anti-cardiolipid antibodies
Lupus anticoagulant

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10
Q

What is the risk with LMWH therapy?

A

Heparin induced thrombocytopenia HIT typically presents 5-14 days after starting heparin therapy and can occur with LMWH like dalteparin. The absence of other symptoms and the isolated drop in platelets

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11
Q

What is the cause of neutrophilia unrelated to infection?

A

Severe stress with trauma, surgery, burns and haemorrhage
Use of corticosteroids
Inflammatory conditions like poly arthritis nodosa
MI
Malignancy

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12
Q

What causes neutropenia/

A

Severe sepsis
Viral ifnection
Felty’s syndrome

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13
Q

Which drugs cause agranulocytosis?

A

Carbamezapine
Carbimazole
Cloazipine

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14
Q

What causes lymphoctosis?

A

Acute viral infection, like EBV and CMV
Chronic atypical infection with tuberculosis and toxoplasmosis
Lymphoproliferative disorders

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15
Q

When is neutropenia a normal variant?

A

In African and Middle Eastern populations but this is only mild between 1 to 1.5 x 10/9

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16
Q

What is the most common cause of unprovoked PE in under 50’s?

A

Factor V Leiden mutation which causes resistance to inactivation by protein C resulting in accelerated thrombosis

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17
Q

Which conditions have complex inheritance?

A

Diabetes
Schizophrenia
Heart disease

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18
Q

What is the most common cause of neutropaenia?

A

Chemotherapy

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19
Q

Name a common organism responsible for neutropenic sepsis.

A

Gram-positive bacteria (e.g. Staphylococcus aureus, Streptococcus pneumoniae)

Particularly S.epidermididis, likely due to the use of lines in vulnerable patients.

20
Q

List two types of bacteria involved in neutropenic sepsis.

A
  • Gram-positive bacteria
  • Gram-negative bacteria
21
Q

Give examples of gram-negative bacteria that can cause neutropenic sepsis.

A
  • Escherichia coli
  • Pseudomonas aeruginosa
22
Q

What are two fungal pathogens associated with neutropenic sepsis?

A
  • Candida species
  • Aspergillus species
23
Q

What are common signs and symptoms of neutropenic sepsis?

A
  • Fever
  • Rigors
  • Hypotension
  • Tachycardia
  • Respiratory distress
  • Altered mental status
24
Q

What is the first step in the treatment of neutropenic sepsis?

A

Empirical antibiotics

25
Fill in the blank: The empirical antibiotic often used is _______.
Piperacillin-Tazobactam
26
When should broad-spectrum antibiotics be initiated for neutropenic sepsis?
Within 30 mins - 1h of presentation
27
What is an important treatment for hypotension in neutropenic sepsis?
Aggressive fluid resuscitation
28
What supportive care measures are important in neutropenic sepsis treatment?
* Adequate oxygenation * Inotropes * ICU support if required
29
In which cases may hematopoietic growth factors be considered?
Febrile neutropenia
30
What type of prophylaxis is advisable in high-risk patients with neutropenic sepsis?
Fungal prophylaxis
31
What is the most common cause of neutropaenia?
Chemotherapy
32
Name a common organism responsible for neutropenic sepsis.
Gram-positive bacteria (e.g. Staphylococcus aureus, Streptococcus pneumoniae) ## Footnote Particularly S.epidermididis, likely due to the use of lines in vulnerable patients.
33
List two types of bacteria involved in neutropenic sepsis.
* Gram-positive bacteria * Gram-negative bacteria
34
Give examples of gram-negative bacteria that can cause neutropenic sepsis.
* Escherichia coli * Pseudomonas aeruginosa
35
What are two fungal pathogens associated with neutropenic sepsis?
* Candida species * Aspergillus species
36
What are common signs and symptoms of neutropenic sepsis?
* Fever * Rigors * Hypotension * Tachycardia * Respiratory distress * Altered mental status
37
What is the first step in the treatment of neutropenic sepsis?
Empirical antibiotics
38
Fill in the blank: The empirical antibiotic often used is _______.
Piperacillin-Tazobactam
39
When should broad-spectrum antibiotics be initiated for neutropenic sepsis?
Within 30 mins - 1h of presentation
40
What is an important treatment for hypotension in neutropenic sepsis?
Aggressive fluid resuscitation
41
What supportive care measures are important in neutropenic sepsis treatment?
* Adequate oxygenation * Inotropes * ICU support if required
42
In which cases may hematopoietic growth factors be considered?
Febrile neutropenia
43
What type of prophylaxis is advisable in high-risk patients with neutropenic sepsis?
Fungal prophylaxis
44
What is essential thrombocytosis?
JAK2 V617F mutation
45
How to differentiate essential thrombocytosis from secondary cause?
Secondary thrombocytosis si will have a trigger