thrombophilias Flashcards
1
Q
what are they?
A
- Increased tendency to develop venous thrombosis (deep vein thrombosis/pulmonary embolism)
- Familial or acquired disorders of the haemostatic mechanism which are likely to predispose to thrombosis.
2
Q
what are the potential mechanisms of thrombophilia?
A
Increased coagulation activity o Platelet plug formation o Fibrin clot formation Decreased fibrinolytic activity Decreased anticoagulant activity
3
Q
what is a hereditary thrombophilia?
A
A group of genetic defects in which affected individuals have an increased tendency to develop premature, unusual and recurrent thromboses. o Factor V Leiden o Prothrombin 20210 mutation o Antithrombin deficiency o Protein C deficiency o Protein S deficiency
4
Q
who should be screened for a hereditary thrombophilia?
A
- Venous thrombosis <45 years old
- Recurrent venous thrombosis
- Unusual venous thrombosis
- Family history of venous thrombosis
- Family history of thrombophilia
5
Q
how is a hereditary thrombophilia managed?
A
- Advice on avoiding risk
- Short term prophylaxis – to prevent thrombotic events during periods of known risk
- Short term anticoagulation – to treat thrombotic events
- Long term anticoagulation – if recurrent thrombotic events
6
Q
what is an acquired thrombophilia?
A
- Antiphospholipid antibody syndrome
* Stronger risk factor for thrombosis than the hereditary thrombophilias
7
Q
what is the pathophysiology?
A
Antibodies lead to a conformational change in β2 glycoprotein 1 (a protein with unknown function in health) which leads to activation of both primary and secondary haemostasis and vessel wall abnormalities.
8
Q
how does acquired thrombophilia present?
A
Recurrent thromboses o Arterial, including TIAs o Venous Recurrent fetal loss Mild thrombocytopenia
9
Q
conditions associated with antiphospholipid antibodies
A
- Autoimmune Disorders
- Lymphoproliferative Disorders
- Viral Infections
- Drugs
- Primary
10
Q
how is it managed?
A
- Activation of both primary and secondary haemostasis – in Arterial and venous thrombosis
- Aspirin
- Warfarin
