Thrombophilia

Key Information

Appropriate Tests

Congenital

Term used to indicate an increased inherited or acquired risk of thrombosis. See blood abnormalities under Thrombosis, arterial and venous.

Specific factor assays.

Factor V Leiden mutation

Factor V Leiden

Prothrombin gene mutation (G20210A)

Prothrombin gene mutation

Protein C, Protein S deficiency

Protein C, Protein S

Antithrombin deficiency

 

Activated Protein C resistance

APC resistance

Elevated F VIII:C

 

ABO blood group

 

Acquired causes

 

Underlying malignancy

May be occult. Particularly adenocarcinomas

Pregnancy and exogenous oestrogens such as OC or HRT

 

Immobility, postoperative state, venous stasis

 

Cardiolipin antibodies

Cardiolipin Ab. May be part of the Antiphospholipid syndrome.

Elevated homocysteine

This may be due to an underlying genetic lesion or reflect deficiency in Folate, Vitamin B12 and/or Pyridoxine in the diet. Testing for the methyl tetra hydrofolate reductase mutation may be indicated.

Lupus inhibitor

 

Myeloproliferative neoplasms

 

Paroxysmal nocturnal haemoglobinuria (PNH)

See Paroxysmal nocturnal haemoglobinuria; Myelodysplastic syndromes

Behcet’s disease

 

Chronic haemolysis, eg, thalassaemic states

 

Sickle cell anaemia

See Sickle cell disorders

Thrombo​sis

 

Vascular/skeletal anomalies

 

Drugs, eg, heparins

 

Strong family history