Thrombophilia

Question 1

What is Thrombophilia?

Answer 1

Inherited or acquired coagulopathy predisposing to thrombosis

Question 2

What are causes?

Answer 2

Congenital

• Factor V Leiden Mutation
• • autosomal dominant
• -most commonly inherited coagulopathy
• anti- thrombin III deficiency
• prothrombin gene mutation

Acquired

• APS
• drugs- COCP

Question 3

What are the indications of thrombophilia?

Answer 3

Do not normally screen for factor V leiden mutation

Arterial thrombosis <50
Venous thrombosis <40 and no risk factors
Recurrent miscarriage >3
Familial VTE
Unusual site of thrombus

Question 4

What investigations are needed?

Answer 4

Bloods

• FBC
• Clotting
• Fibrinogen concentration
• anticardiolipin antibodies
• antithrombin and protein assays
• factor V leiden mutation PCR

Question 5

What is DIC?

Answer 5

Disseminated intravascular coagulation

Systemic activation of coagulation pathways leading to extensive intravascular coagulation and fibrin clot development

Consumption of clotting factors and platelets leads to haemorrhage

Question 6

What are the causes of DIC?

Answer 6

Sepsis
Trauma
Malignancy
Severe liver failure
Obstetric complications
Immunogenic stimuli

Question 7

What are the clinical features?

Answer 7

Bruising
Excessive bleeding from any sites
Renal failure

Question 8

What investigations are needed?

Answer 8

Bloods

• decreased platelets and fibrinogen
• increased PT and APTT
• Increase in fibrinogen degradation products

Schistocytes due to microangiographic haemolytic anaemia

Question 9

What is the management?

Answer 9

Treat underlying cause
Resus
Replace platelets and coag factors- FFP
Protein C reduces morbidity in sepsis induced