Pharmacogenomics – Venous Thrombosis And Contraceptives

Genetic factors can influence an individual’s susceptibility to venous thrombosis (VTE) and interact with the use of hormonal contraceptives. Certain genetic mutations can increase the risk of developing blood clots, including VTE. When considering the use of hormonal contraceptives, understanding your genetic risk factors may help provide a more comprehensive assessment of your individual risk.

4 Genes

Factor II, Factor V, CYP2C9, MTHFR

https://genestreet.com/wp-content/uploads/2020/01/Pharmacogenomics-Gene-Function.pdf

The prothrombin gene, also known as the coagulation Factor II gene, provides instructions for producing a protein called prothrombin, which is involved in blood clotting. Mutations or variations in the prothrombin gene can impact the production or function of prothrombin and may increase the risk of excessive blood clotting, including venous thrombosis.

The most common mutation in the prothrombin gene is known as the prothrombin G20210A mutation. This mutation involves a single nucleotide change in the gene, resulting in increased production of prothrombin. Individuals who carry this mutation have a higher risk of developing blood clots, particularly venous thrombosis, compared to those without the mutation.

It is important to note that not all individuals with the prothrombin gene mutation will develop blood clots, and the presence of the mutation alone is not sufficient to predict or diagnose thrombosis. The risk associated with the prothrombin gene mutation is also influenced by other factors, including additional genetic and environmental factors.

The Factor V gene, also known as the coagulation Factor V gene, provides instructions for producing a protein called coagulation Factor V. Mutations in the Factor V gene can lead to an increased risk of excessive blood clotting, including a condition known as Factor V Leiden thrombophilia.

The most common mutation associated with Factor V Leiden thrombophilia is the Factor V Leiden mutation. This mutation involves a single nucleotide change in the Factor V gene, resulting in a protein that is resistant to inactivation by a natural anticoagulant called activated protein C. As a result, individuals with the Factor V Leiden mutation have an increased risk of developing blood clots, particularly venous thrombosis.

It’s important to note that not all individuals with the Factor V Leiden mutation will develop blood clots, and the presence of the mutation alone is not sufficient to predict or diagnose thrombosis. The risk associated with the Factor V Leiden mutation is also influenced by other factors, including additional genetic and environmental factors.

If you have a personal or family history of blood clotting disorders, including venous thrombosis, it is important to discuss this with your healthcare provider. They may consider genetic testing or other risk assessment tools to evaluate your individual risk and guide decisions regarding management and preventive strategies.

Understanding your genetic risk factors, such as the Factor V Leiden mutation, can provide valuable information for risk assessment and may influence decisions regarding the use of hormonal contraceptives or other treatments. Your healthcare provider can provide personalized guidance based on your specific medical history, genetic risk factors, and overall risk profile for venous thrombosis.

The MTHFR gene (methylenetetrahydrofolate reductase gene) provides instructions for producing an enzyme called methylenetetrahydrofolate reductase. Variations or mutations in the MTHFR gene can impact the enzyme’s activity and affect the body’s ability to process folate, a B-vitamin important for various biochemical reactions in the body.

There are two common variations in the MTHFR gene known as C677T and A1298C. These variations may lead to reduced enzyme activity and lower levels of the active form of folate in the body. Some studies have suggested that these MTHFR gene variations may be associated with a slightly increased risk of blood clots, including venous thrombosis.

Regarding the use of contraceptives, the presence of MTHFR gene variations alone does not typically affect the choice or use of hormonal contraceptives, such as combined oral contraceptives (COCs) or progestin-only contraceptives. However, it is important to note that individuals with MTHFR gene variations may have a higher risk of blood clots overall, and the use of hormonal contraceptives can further increase this risk.

If you have MTHFR gene variations and are considering using hormonal contraceptives, it is recommended to discuss this with your healthcare provider. They can evaluate your individual risk factors, take into account your medical history and family history of blood clots, and provide personalized guidance on the most appropriate contraceptive options for you. In some cases, alternative forms of contraception or additional preventive measures may be recommended to minimize the risk of blood clots.

It is important to have an open and honest discussion with your healthcare provider to assess your individual risk and make informed decisions regarding contraceptive choices and any necessary preventive measures based on your specific medical history and genetic profile.

The CYP2C9 gene encodes an enzyme called cytochrome P450 2C9, which is involved in the metabolism of various drugs, including certain components of oral contraceptives. Genetic variations in the CYP2C9 gene can affect the activity of the enzyme, leading to differences in how individuals metabolize medications.

When it comes to oral contraceptives, specifically those containing the hormone ethinyl estradiol, CYP2C9 activity is not directly involved in the metabolism of this hormone. Therefore, variations in the CYP2C9 gene are not expected to have a significant impact on the effectiveness or safety of ethinyl estradiol-containing oral contraceptives.

It’s important to note that individual responses to medications can still vary, and there may be other genetic factors or considerations that can influence the use of oral contraceptives. It is recommended to discuss your specific genetic profile, including any known variations in the CYP2C9 gene, with your healthcare provider. They can provide personalized guidance and help determine the most appropriate contraceptive method for you based on your overall health, medical history, and any other relevant factors.

If you have concerns about the interaction between CYP2C9 gene variations and oral contraceptives, consulting with a healthcare professional, such as a gynecologist or a clinical pharmacologist, can provide you with more specific and tailored information based on your individual genetic profile and medical history.

If you are considering hormonal contraceptives or have a personal or family history of blood clotting disorders, including venous thrombosis, it is crucial to discuss this with your healthcare provider. They may consider genetic testing or other risk assessment tools to help evaluate your individual risk and guide decisions regarding the use of hormonal contraceptives or other management strategies.

• PCR

Buccal Swab

1 – 2 weeks