Blood coagulation, factor V Leiden and 20210G-A

Thrombophilias are hereditary and/or acquired pathologies that predispose to blood clots or thrombosis. Among the genetic factors identified, the Factor V Leiden mutation and the prothrombin gene 20210G-A mutation are the most studied.

The term hereditary thrombophilia has generally been applied to pathologies in which a genetic mutation affects the amount or function of a protein of the coagulation system. The most studied mutations are factor V Leiden or rs6025 and the prothrombin gene 20210A-G or PGM.

Hypercoagulability or thrombophilias are multifactorial conditions that may have a different etiology. In addition to the possible genetic contribution, several factors must be taken into account to properly assess the individual risk of thrombophilia. Acquired thrombophilia may be due to specific diseases such as, for example, myeloproliferative neoplasms and deficiencies in natural coagulants. Some drug treatments (oral contraceptives, hormonal treatments and chemotherapy) and other factors such as smoking, obesity and pregnancy may also increase the risk of thrombosis and should be considered.

Individuals more prone to hypercoagulation of the blood are at increased risk of developing deep vein thrombosis (DVT), which is characterized by a tendency for clots to form in the veins of the legs. Although clots form mainly in the legs, they can also occur in other parts of the body such as the lungs, leading to pulmonary embolism. Venous thrombosis is the main term that includes DVT and pulmonary embolism and its incidence is estimated at 1-2 per 1000 individuals each year, being the third most common cardiovascular disease.

Being a multifactorial condition, there are a number of actions that can help minimize the risk of thrombosis:

  • Healthy lifestyle with a balanced diet and regular exercise.
  • When faced with long periods of sitting, get up and walk around every 1 to 2 hours.
  • Getting out of bed and moving around as soon as possible after surgery or disability.
  • Taking medication for thrombus prevention.
  • Wearing loose-fitting clothing.

Genes analyzed

F2 F5

Bibliography

Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994;369(6475):64-7.

Bertina RM, Koeleman BP, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature. 1994;369(6475):64-7.

Doherty TM, Kelley A. Bleeding Disorders. 2019 Jun 16. StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan-.

Kujovich JL. Factor V Leiden thrombophilia. Genet Med. 2011;13(1):1-16.

Simone B, De Stefano V, Leoncini E, Zacho J, Martinelli I, Emmerich J, et al. Risk of venous thromboembolism associated with single and combined effects of Factor V Leiden, Prothrombin 20210A and Methylenetethraydrofolate reductase C677T: a meta-analysis involving over 11,000 cases and 21,000 controls. Eur J Epidemiol. 2013;28(8):621-47.

Stevens SM, Woller SC, Bauer KA, Kasthuri R, Cushman M, Streiff M, et al. Guidance for the evaluation and treatment of hereditary and acquired thrombophilia. J Thromb Thrombolysis. 2016;41(1):154-64.

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