About blood disorders Blood disorders Thrombophilia Thrombophilia is an abnormal coagulation process which can be inherited or acquired. It results in a hypercoagulable state and increases the risk of thrombotic events where blood clots can form in either the arteries or veins. It is more common to acquire thrombophilia as the causes include trauma, surgery, immobilisation, pregnancy, hormone replacement therapy, and the use of oral contraceptives. Research into hereditary thrombophilia started by studying families with a history of venous thromboembolism. The two most common causes of genetic related thrombophilia are elevated coagulation factors ‘prothrombin gene mutation’ and ‘factor V Leiden’ (FVL). These account for up 70% of diagnosed inherited forms of thrombophilia. FVL is a mutation of one of the blood clotting factors which can increase the chance of developing abnormal blood clots. These thrombi commonly occur in the legs or lungs and can lead to long-term health problems or be life-threatening. As mentioned above, women who carry the FVL mutation may have an increased tendency to develop blood clots during pregnancy or when using HRT or oral contraceptives. Research has shown that FVL has been associated with pregnancy complications linked to hypercoagulation. There is an 8-fold risk increase with DVT, a 26% increased possibility of pre-eclampsia, and an increased prevalence of 31% for second and third trimester pregnancy failure. Recently PBI was contacted by Tiffany who has FVL associated Thrombophilia. You can read her story HERE. For additional information about thrombophilia please click HERE. A review by the American Society of Hematology published 2023 Guidelines for the Management of venous thromboembolism related to thrombophilia testing. References Samfireag, M. et al., (2022). Approach to Thrombophilia in Pregnancy—A Narrative Review. Medicina Thrombophilia and their detection - ScienceDirect Factor V Leiden - Symptoms and causes - Mayo Clinic Spina, V., Aleandri, V., & Morini, F. (2000). The impact of the factor V Leiden mutation on pregnancy. Human Reprod Update. doi: 10.1093/humupd/6.3.301.