TY - JOUR T1 - Testing for thrombophilia: clinical update JF - British Journal of General Practice JO - Br J Gen Pract SP - e120 LP - e122 DO - 10.3399/bjgp14X677310 VL - 64 IS - 619 AU - Neil Graham AU - Hunaid Rashiq AU - Beverley J Hunt Y1 - 2014/02/01 UR - http://bjgp.org/content/64/619/e120.abstract N2 - Thrombophilia describes inherited and acquired prothrombotic states which predispose to venous, but not arterial thromboembolism. The heritable states are of limited clinical significance in primary care and while they may underlie a patient’s presentation with deep venous thrombosis (DVT) or pulmonary embolism (PE) of uncertain cause, tests infrequently alter management. Testing patients is not without pitfalls: results are only informative if taken in the right patient at an appropriate time, as explained in recent guidance from the National Institute for Health and Care Excellence (NICE)1 and described below.The inherited thrombophilias are described in greater detail in Box 1 and largely fall into one of two groups: common low thrombosis-risk states, such as activated protein C resistance (due to the Factor V Leiden mutation) and rarer higher-risk states, including protein C or S deficiency. Due to their rarity, epidemiological data around some of the thrombophilias are poor: guidelines on these from NICE and the British Society for Haematology are largely expert opinion based on limited observational data.1,2Box 1. Typical components of a thrombophilia blood panelInherited statesHeterozygous Factor V Leiden mutation (FVR506Q)6Mutation in Factor V gene confers resistance to activated protein C and increases thrombosis risk 3–5xHeterozygous prothrombin 20210 mutation7Elevated prothrombin levels due to mutation increase risk by 2–3xHeterozygous protein C deficiency8Rare mutations reduce the function or production of protein C, an inhibitor of coagulation together with protein S, increasing thrombosis risk around 3xHeterozygous protein S … ER -