The V Leiden mutation is the most common mutation in congenital thrombophilia. It has a huge impact, first of all, on the heart and blood vessels. It can also determine the course of a woman's pregnancy. This mutation is detected by genetic testing. After that, treatment can be implemented to help protect the patient from its effects.
Factor V Leiden mutationincreases the risk of thrombosis, stroke and heart attack. This mutation may also be a direct cause of obstetric failures, including habitual miscarriages. However, complications of congenital thrombophilia (hypercoagulability of the blood) most often occur when, in addition to a genetic predisposition, i.e. the presence of factor V Leiden, an environmental factor is also present. Such a "non-genetic" factor, apart from being overweight, sedentary, smoking or using hormonal contraception, can be pregnancy and the puerperium.
Factor V Leiden mutation - how does it affect pregnancy?
As a result of the increased activity of clotting factors, the blood of a pregnant woman is more viscous and prone to the formation of clots. In this way, the body of the future mother tries to protect itself from too much bleeding during childbirth. The presence of the V Leiden mutation may further aggravate this clotting, which will increase the risk of thrombosis in a pregnant woman even more. The hypercoagulable state, in turn, can make it difficult for the embryo to implant in the uterus, cause the placenta to detach prematurely, and eventually cause a spontaneous miscarriage. This is the reason why testing for the V Leiden mutation is offered to expectant mothers. Knowing about having the mutation and applying the appropriate treatment (based on low molecular weight heparin), a woman has a much better chance of delivering pregnancy.
Factor V Leiden - how does a mutation lead to thrombosis?
Mutation V of the clotting factor creates a protein resistant to the action of protein C, which inhibits the blood clotting process. As a result, the body's balance (haemostasis) is upset and the blood clots faster than it should. It is therefore considered to be the main cause of increased susceptibility to thrombosis - a disease in which the veins, most often in the lower limb, are partially or completely obstructed by a clot. The mutation is inherited autosomal dominant. Sometimes it is enough thatthe child - regardless of gender - will inherit a copy of the damaged gene from only one parent, so that the symptoms of the disease appear.
Who should test for factor V Leiden mutation
People who have had their first thrombotic episode behind them, or those who are exposed to "non-genetic" factors of thrombosis development (smoke cigarettes, lead a sedentary lifestyle, have undergone surgery) should definitely be tested for the V Leiden mutation requiring long lying down etc.).
The patient should also be encouraged to undergo a genetic test if there is a thrombosis, stroke or heart attack in one of the family members.
The examination is worth deciding in case of symptoms typical for thrombosis: we feel pain from the knees down, our legs are swollen and bluish red, and the skin on them is warmer and more sensitive to touch. All these symptoms are a consequence of the inflammation in the limbs affected by the thrombosis (more often one limb) and the increased pressure in the vein caused by the clot.
Factor V Leiden - how to diagnose and then prevent the effects of the mutation
The way to detect a V Leiden mutation is through a genetic test. The sample for it is a cheek swab. Currently, many genetic laboratories that offer this test offer special kits, thanks to which such a smear can be prepared at home. It is worth showing the test result to a specialist in hereditary diseases, i.e. a geneticist.
After identifying the mutation, you can also proceed with the appropriate treatment. In the case of congenital thrombophilia, anticoagulants are used primarily to prevent the development of thrombosis. Proper therapy also reduces the risk of stroke and heart attack, and helps the future mother to stay pregnant and give birth to a he althy baby.