Inherited thrombophilia is related to an increased risk of venous thromboembolism.
The Factor V Leiden mutation is usually the genetic cause and can be detected using
relatively straightforward genetic tests. Using hormonal contraceptives further
elevates the risk of thrombosis. Genetic testing could support the personalization of
contraceptive therapy by finding women at high risk. Preparing this review, we
based it on a targeted literature search on inherited thrombophilia caused by Factor
V Leiden and its impact on contraceptive use. We examined data from twenty-two
studies published between January 2000 and May 2025 in PubMed and Google
Scholar, with a focus on the last decade. The search terms included contraception,
venous thromboembolism, thrombophilia, and Factor V Leiden. We included
original research, systematic reviews, official guidelines, and case reports. We
focused on risk assessment, contraceptive recommendations, and genetic testing.
We wanted to draw attention to the problem of thromboembolic disease in women
using contraception. It considers the utility of genetic testing in guiding safer
clinical decisions. We discussed the role of contraceptives in thrombosis. The
prothrombotic effect of oral contraceptive ingredients is well documented. We have
presented alternative contraceptive methods, such as non-hormonal options. The
decision on choosing the best treatment should take into account the potential risk
of thrombosis. It depends on a thorough family history and patient education.
Adding genetic screening to clinical practice could be beneficial. However, further
studies on the cost-effectiveness and the development of clear guidelines are
necessary.
Keywords: inherited thrombophilia, Factor V Leiden, genetic screening,
contraception.