The prothrombin mutation G20210A is a genetic defect that drastically increases the risk of developing thrombosis. With this mutation, the genetic information is changed in favor of an increased production of prothrombin. The disease cannot be cured, but can be treated well with medication.
What is prothrombin mutation G20210A?
With the prothrombin mutation G20210A there is an increased risk of developing thrombosis. Even in early adulthood, thrombosis can form in unusual places. There is a great risk that individual blood clots will break loose and cause a pulmonary embolism or a stroke.
Prothrombin is a coagulation factor that helps blood to clot by clumping platelets together, for example when blood vessels are injured. It is also known as factor II of blood coagulation and, along with twelve other blood coagulation factors, is responsible for blood clotting. The prothrombin mutation G20210A does not alter the protein prothrombin. See gradphysics for Throat Cancer in English.
However, it is increasingly formed. The higher concentration of prothrombin in turn leads to faster blood clotting than in healthy people. The thrombophilia caused by the prothrombin mutation G20210A affects about two to three percent of the population with a heterozygous condition. There is a fivefold increased risk of thrombosis. Homozygous predisposition is less common. The risk of thrombosis is even greater.
The prothrombin mutation G20210A represents a point mutation in which the nitrogen base adenine is located at position 20210 of the corresponding gene instead of the nitrogen base guanine. One intron is affected so that the protein itself is not genetically modified. An intron separates the coding sections of the gene.
However, it has a regulatory effect on gene function. In this case, the gene mutation increases the expression of the gene. Prothrombin is increasingly formed and thus causes faster blood clotting. Whenever injuries occur in the blood vessels, thrombi quickly form, which promote circulatory disorders and can get into the bloodstream as blood clots by detaching.
Since clotting takes place very quickly, thrombosis can also form in areas that are normally spared. The formation of prothrombin takes place in the liver with the participation of vitamin K. It is the precursor of thrombin, which acts as the actual clotting factor by converting fibrinogen into fibrin. Fibrin in turn polymerizes to form fibrin polymers, which ensure the adhesion of the blood platelets.
Symptoms, Ailments & Signs
The prothrombin mutation G20210A only represents an increased risk for the formation of thrombosis. As a risk factor, it does not yet cause any symptoms. However, the thrombosis caused by this mutation produces symptoms. Thrombosis occurs particularly frequently in the deeper leg veins. Young people with this genetic defect are often affected by thrombophilia.
However, the thromboses are also observed in otherwise unusual places. These include thrombosis in the arm or intestine. The thrombosis in the arm is noticeable through severe swelling of the arm and unbearable pain. When thrombosis occurs in the intestinal veins, nausea, vomiting, abdominal pain, and diarrhea typically occur . Sometimes thrombosis also forms in the cerebral veins.
The symptoms that occur depend on the localization of the thrombosis. In addition to headaches and lightheadedness, symptoms of paralysis, other neurological deficits and unconsciousness can also occur. There is always a risk of a pulmonary embolism or a stroke due to the detachment of a blood clot. Pregnant women often suffer miscarriages.
Diagnosis & course of disease
A first suspicion of a prothrombin mutation G20210A exists when thrombosis occurs in adolescents and young adults and thrombosis occurs more frequently or in unusual places such as the intestine, arms, eyes and brain. A typical indication is a family history of thrombophilia. A G20210A prothrombin mutation should also be considered in the case of multiple miscarriages. The diagnosis can only be confirmed by an appropriate genetic test.
As a rule, the prothrombin mutation G20210A leads to a significantly higher risk of developing thrombosis in the patient. In the worst case, the thrombosis can even lead to the death of the person concerned. The disease itself cannot be cured. However, the prothrombin mutation G20210A can be restricted relatively well with the help of medication, so that the risk is minimized.
The further course and the success of the treatment depend heavily on the time of diagnosis of this disease. The thrombosis itself usually occurs in the legs, although young people are also affected. This causes severe swelling and pain. Persistent nausea or vomiting can also become noticeable. In many cases, patients also suffer from diarrhea or severe abdominal pain.
The disease can also lead to paralysis or unconsciousness. In women, miscarriages are possible due to the G20210A prothrombin mutation. The treatment of the disease is carried out with the help of drugs. A healthy lifestyle with sufficient exercise also has a positive effect on the course of the disease. Whether the patient’s life expectancy will be reduced cannot usually be predicted in general.
When should you go to the doctor?
Prothrombin mutation G20210A must always be treated by a doctor. This disease does not heal itself and in most cases there is also a significant deterioration in the symptoms of those affected. In the worst case, further complications can lead to the death of the person concerned or drastically reduce life expectancy.
However, a complete cure of the disease is not possible, so that the patient is always dependent on lifelong treatment. A doctor should be consulted if the patient suffers from persistent severe abdominal pain, cramps or diarrhea. This can also lead to nausea and vomiting, whereby the symptoms significantly restrict the patient’s everyday life and reduce the quality of life. Headaches and drowsiness can also indicate the prothrombin mutation G20210A and should be investigated if they occur without a specific reason and do not go away on their own. In pregnant women, a miscarriage can also indicate the prothrombin mutation G20210A.
The prothrombin mutation G20210A can be diagnosed by a general practitioner. With the help of medication, the symptoms of the disease can usually be cured relatively well, so that the patient’s life expectancy is usually not reduced by the disease.
Treatment & Therapy
Since the prothrombin mutation G20210A is hereditary, there is of course no causal therapy. Basically, the treatment consists of preventing the thrombosis by administering anticoagulants. Heparin, phenprocoumon or others can be used as anticoagulants. At least an INR (International Normalized Ratio) above 2 should be achieved.
INR is a laboratory medical parameter that makes statements about the clotting time. With an INR above 1, there is a long clotting time, which can be caused by anticoagulants. However, since the risk of thrombus formation with a G20210A prothrombin mutation is very high, the target value is set even higher here. Drug therapy is particularly important in situations such as travel, hospital stays, operations or accidents.
Sitting or lying down for a long time impedes blood flow, which can lead to rapid blood clotting. The same applies to injuries to blood vessels during operations or accidents. Pregnancies and births also require special attention in this context. Antithrombosis stockings should be used in bedridden patients.
In the case of a prothrombin mutation G20210A, all measures should be taken to largely prevent the occurrence of thrombosis. Drug therapy against the effects of the G20210A prothrombin mutation is also the best way to prevent thrombosis.
It is important to avoid situations that trigger thrombosis. These include long periods of sitting and lying down, little exercise and smoking. You should also avoid taking birth control pills. Support stockings should also be worn if you have varicose veins. Overall, a healthy lifestyle has a supportive effect.
The progressive prothrombin mutation G20210A is a genetic defect and unfortunately no causal therapy is possible. Only symptomatic follow-up is possible to reduce the risk of blood clots or vascular occlusions. Anticoagulants such as phenprocoumon are used for this purpose. This is important to avoid complications such as stroke or embolism.
In addition, wearing antithrombosis stockings is recommended in many cases, especially when sitting for longer periods, such as when traveling by plane. Furthermore, a supportive healthy lifestyle helps to reduce the risk of recurrence. Physical activity, healthy nutrition and sufficient fluid intake are very important. Smoking should also be given up.
After the diagnosis with prothrombin mutation G20210A, regular check-ups with the general practitioner should be arranged. If symptoms reappear, you should see a doctor urgently. In women, the type of contraception should also be discussed with the gynecologist, since oral contraceptives (birth control pills) increase the risk of thrombosis.
If you wish to become pregnant, you should discuss this disease with your doctor, as this increases the risk of miscarriage. The prognosis for prothrombin mutation G20210A considering the above points is relatively good. A generally reduced life expectancy cannot be assumed, but this depends on the specific conditions of each person affected.
You can do that yourself
Self-help with prothrombin mutation G20210A lies mainly in avoiding thrombi and their long-term consequences.
It is important to take the anticoagulants prescribed by your doctor on a regular basis and to avoid sitting and lying down for long periods of time without moving. On long-haul flights outside of Europe, those affected must wear thrombosis stockings and move as much as possible on the plane. If the patient has a mainly sedentary activity, regular exercise must also be ensured here. When traveling in a tropical climate, going to the sauna and suffering from illnesses that result in severe fluid loss, it is essential to increase the amount of fluid consumed in order to prevent the blood from thickening.
Pregnant women must discuss the special situation with their gynecologist. With them, close monitoring of blood clotting is particularly important to avoid miscarriages.
Those affected should always take unusual swellings on their extremities seriously and clarify them, as these could indicate a thrombosis in the arm or leg. Symptoms that are more indicative of a gastrointestinal disease, such as nausea, diarrhea and vomiting, can also indicate a dangerous thrombosis, for example in the intestinal veins. Headaches that last an unusually long time or get worse must also be clarified.
A healthy lifestyle with a balanced diet and regular exercise has a positive effect on the cardiovascular system. Refraining from smoking and, for females, from taking birth control pills also reduces the risk of thrombosis.