More comprehensive genetic analyses help patients with predisposition to thrombophilia - Synlab

More comprehensive genetic analyses help patients with predisposition to thrombophilia

Published by Synlab on 08 May 2024
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Genetic profiles that study more variants associated with thromboembolic events may be determinant in many cases.

Thrombophilia is a predisposition to develop blood clots that, when released into the circulation, may result in thromboembolic events, such as thrombosis, pulmonary embolism, cerebral thrombosis and infarction. According to the World Health Organization (WHO), thrombosis is one of the deadliest cardiovascular problems in the world.

The thrombosis etiology is complex and multifactorial, and it may be hereditary or acquired. The use of oral contraceptives is one of the possible causes as they perform a series of alterations in the anticoagulant and fibrinolytic pathways, increase the levels of pro-coagulant factors, and promote a circulatory imbalance, causing thrombosis.

More than 100 million women take contraceptives, which increase not only to the risk of venous thromboembolism but also to the risk of arterial thrombosis in those who are of reproductive age. This risk is even greater among women over the age of 40. In view of this data, it is important to emphasize that the risk of thrombosis associate with this type of medication can be reduced with [PP1] [PP2] the appropriate choice of contraception.

Despite the acquired factors associated with the development of thrombosis, genetic predisposition is currently described as the most serious risk factor, accounting for up to 60% of the cases. Most genetic studies suggest the analysis of Factor V Leiden V (FVL) and prothrombin G20210A (factor II) mutations, because the risk of venous thrombosis in women using oral contraceptives and having such variants increases from 35 to 99 times when compared to women who do not take these [PP3] medications. According to the Genetic Home Reference database, about 3-8% of people with European ancestry carry a copy of the Factor V Leiden mutation in each cell, and approximately 1 in 5,000 people has two copies of the mutation. The mutation is less common in other populations. For the second most analyzed factor (G20210A), approximately 1 in 50 people in the United States and Europe population has associated thrombophilia. Therefore, for the individuals who do not carry these mutations but present a clinical or family history with a high suspicion of thrombophilia, the analysis of other genetic factors should be considered.

SYNLAB laboratory offers, among all its innovative tests, a test capable of evaluating 15 allelic variants in 11 genes associated with an increased risk of developing thrombosis. The scope of the investigation includes the analysis of both the most frequently studied variants (FLV, G20210A and MTHFR), and other genes involved in the factor XII of the coagulation cascade, Coagulation factor XIII A chain, Fibrinogen beta chain, GP Glycoprotein, Endothelial protein C receptor, Protein S, Antithrombin, and Plasminogen Activator Inhibitor. The test further investigates the patient’s genetic profile for thrombophilia, helping to identify the predisposition to develop thromboembolic events. This analysis integrates an algorithm that, based on the patient’s genetic, clinical and lifestyle information, makes it possible to estimate the risk of developing such thromboembolic events and reduce the occurrence of thrombosis, alerting even asymptomatic patients. This genetic investigation may provide prognostic criteria and personalized therapeutic strategies for patients at increased risk for thrombosis.


SYNLAB offers a full range of medical laboratory services for practising doctors, clinics and the pharmaceutical industry. The SYNLAB Group is the uncontested leader on the European market for human medicine laboratory services.


Bibliographic References

1- Kemmeren JM, Algra A, Meijers JC, Bouma BN, Grobbee DE. Effect of second- and third-generation oral contraceptives on fibrinolysis in the absence or presence of the factor V Leiden mutation. Blood Coagul Fibrinolysis. 2002 Jul;13(5):373-81.

2- Middeldorp S, Meijers JC, van den Ende AE, van Enk A, Bouma BN, Tans G, Rosing J, Prins MH, Büller HR. Effects on coagulation of levonorgestrel- and desogestrel-containing low dose oral contraceptives: a cross-over study. Thromb Haemost. 2000 Jul;84(1):4-8.

3- Dulicek P, Ivanova E, Kostal M, Sadilek P, Beranek M, Zak P, Hirmerova J. Analysis of Risk Factors of Stroke and Venous Thromboembolism in Females With Oral Contraceptives Use. Clin Appl Thromb Hemost. 2018 Jul;24(5):797-802. doi: 10.1177/1076029617727857. Epub 2017 Sep 8.

4- Gialeraki A, Valsami S, Pittaras T, Panayiotakopoulos G, Politou M. Oral Contraceptives and HRT Risk of Thrombosis. Clin Appl Thromb Hemost. 2018 Mar;24(2):217-225. doi: 10.1177/1076029616683802. Epub 2017 Jan 4. Review.

5- Souto JC, Almasy L, Borrell M, et al. Genetic susceptibility to thrombosis and its relationship to physiological risk factors: the GAIT study. Genetic Analysis of Idiopathic Thrombophilia. Am J Hum Genet. 2000; 67(6):1452-1459.

6- Larsen TB, Sorensen HT, Skytthe A, Johnsen SP, Vaupel JW, Christensen K. Major genetic susceptibility for venous thromboembolism in men: a study of Danish twins. Epidemiology. 2003;14(3):328-332.

7- Home page: National Library of Medicine (US). Genetics Home Reference [Internet] Accessed on: March 27, 2019.

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