Thrombophilias means 'loves to clot' & these are disorders with high rates of thrombosis
Factor V Leiden is the commonest thrombophilia
Thrombophilias are rare but important causes of venous clots (DVT, PE) & arterial clots (strokes, myocardial infarction)
Testing for factor V Leiden is controversial due to its high asymptomatic rates
Protein C deficiency
Protein S deficiency
Antithrombin deficiency (previously thrombin III)
Factor V Leiden (controversial)
Prothrombin gene mutation
Antiphospholipid syndrome (APS): anti B2 glycoprotein-1, anti-cardiolipin
Arterial
Renal vein thrombosis
Unusual features:
Young, distribution, recurrance in:
As standard:
Links
Specialties: Haematology, Stroke
References
https://www.southtees.nhs.uk/services/pathology/tests/thrombophilia-screen/
https://www.nbt.nhs.uk/severn-pathology/requesting/test-information/thrombophilia-screen
Written in 2025