Prothrombin mutation G20210A is a genetic defect that dramatically increases the risk of developing thrombosis. In this mutation, genetic information is altered in favor of increased production of prothrombin. The disease is not curable but can be well treated with medication.
What is prothrombin mutation G20210A?
Prothrombin mutation G20210A is associated with an increased risk of developing thrombosis. Even in early adulthood, thromboses can form in unusual locations. There is a great risk that individual blood clots will break loose and cause pulmonary embolism or stroke. Prothrombin is a clotting factor that contributes to the clotting of blood by clumping platelets, for example, when blood vessels are injured. It is also known as factor II of blood clotting and, along with twelve other blood clotting factors, ensures blood clotting. In the G20210A prothrombin mutation, the protein prothrombin is not altered. However, its production is increased. The higher concentration of prothrombin in turn leads to faster blood clotting than in healthy individuals. Thrombophilia caused by the G20210A prothrombin mutation affects about two to three percent of the population with a heterozygous predisposition. There is a fivefold increased risk of thrombosis. A homozygous predisposition is less common. In this case, the risk of thrombosis is increased even more.
Causes
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. In this case, an intron is affected, so that the protein itself is not genetically modified. An intron separates the coding sections on the gene from each other. However, it has a regulatory effect on gene function. In this case, the gene mutation increases the expression of the gene. Prothrombin is produced more frequently and thus causes faster blood clotting. Whenever injuries occur in the blood vessels, thrombi quickly form, which promote circulatory disorders and can enter the bloodstream by detaching as blood clots. Because clotting is very rapid, thrombosis can form even in places that are normally spared. Prothrombin is formed in the liver with the assistance of vitamin K. It is the precursor of thrombosis. 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 are responsible for platelet adhesion.
Symptoms, complaints, and signs
The G20210A prothrombin mutation poses only an increased risk for thrombosis formation. As a risk factor, it does not yet cause symptoms. However, thromboses caused by this mutation do cause symptoms. Thromboses occur particularly frequently in the deeper veins of the legs. Thrombophilia often affects young people with this genetic defect. However, the thromboses are also observed in otherwise unusual locations. These include thromboses in the arm or in the intestine. Thromboses in the arm are noticeable by severe swelling of the arm and excruciating pain. When thromboses occur in the intestinal veins, nausea, vomiting, abdominal pain and diarrhea typically occur. In some cases, thromboses also form in the cerebral veins. The symptoms that occur depend on the location of the thrombosis. In addition to headache and lightheadedness, paralysis, other neurological deficits and unconsciousness may also occur. There is always a risk of pulmonary embolism or stroke due to detachment of a blood clot. Pregnant women often suffer miscarriages.
Diagnosis and course of the disease
An initial suspicion of a G20210A prothrombin mutation exists when thromboses already occur in adolescents and young adults and thromboses are clustered or also occur in unusual locations such as the intestines, arms, eyes, as well as the brain. A typical indication is also a familial accumulation of thrombophilia. A prothrombin mutation G20210A should also be considered in cases of multiple miscarriages. The diagnosis can only be confirmed by appropriate genetic testing.
Complications
In general, the G20210A prothrombin mutation leads to a significantly higher risk of developing thrombosis in the patient.In the worst case, thromboses can also lead to the death of the affected person. The disease itself cannot be cured. However, the prothrombin mutation G20210A can be relatively well limited with the help of drugs, so that the risk is minimized. The further course and success of treatment depend to a large extent on the time of diagnosis of this disease. The thromboses themselves usually occur on the legs, although young people are also affected. The result is severe swelling and pain. Permanent nausea or vomiting may also be noticeable. In many cases, patients also suffer from diarrhea or severe abdominal pain. Furthermore, the disease can lead to paralysis or unconsciousness. In women, miscarriages are possible due to the G20210A prothrombin mutation. The disease is treated with the help of medications. A healthy lifestyle with sufficient exercise also has a positive effect on the course of the disease. Whether there will be a reduced life expectancy for the patient cannot usually be predicted in general.
When should you see a doctor?
The G20210A prothrombin mutation must always be treated by a physician. There is no self-healing with this disease and, in most cases, there is also a marked worsening of symptoms in the affected person. In the worst case, further complications can lead to the death of the affected person 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 permanently from severe abdominal pain, cramps or diarrhea. This can also lead to nausea and vomiting, with the complaints considerably restricting the daily life of the affected person and reducing the quality of life. Similarly, headaches and lightheadedness may be indicative of the G20210A prothrombin mutation and should be investigated if they occur without a specific reason and do not resolve on their own. In pregnant women, miscarriage may also be suggestive of prothrombin mutation G20210A. 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 also usually not limited by the disease.
Treatment and therapy
Because the G20210A prothrombin mutation is hereditary, there is of course no causative therapy. Basically, treatment consists of preventing thrombosis by administering anticoagulants. Anticoagulants that can be used include heparin, phenprocoumon or others. At least an INR (International Normalized Ratio) above 2 should be achieved. INR is a laboratory parameter that provides information 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 is very high with a prothrombin mutation G20210A, the target value is set even higher here. Drug therapy is very important, especially in situations such as travel, hospitalization, surgery, or accidents. Sitting or lying down for long periods of time results in obstruction of blood flow, which can lead to rapid blood clotting. The same is true when blood vessels are injured during surgery or accidents. Pregnancy and childbirth also require special attention in this context. Anti-thrombosis stockings should be used for bedridden patients.
Prevention
In the presence of a G20210A prothrombin mutation, 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 prevention of thrombosis. It is important to avoid situations that trigger thrombosis. These include prolonged sitting and lying down, little exercise, and smoking. Taking birth control pills should also be avoided. Furthermore, support stockings should also be worn in case of varicose veins. Overall, a healthy lifestyle has a supportive effect therapy.
Aftercare
Progressive prothrombin mutation G20210A is a genetic defect and, unfortunately, no causative therapy is available.Only symptomatic aftercare is considered in order to reduce the risk of blood clots or vascular occlusions. Anticoagulants such as phenprocoumon are used for this purpose. This is important to prevent complications such as strokes or embolisms. In addition, the wearing of antithrombosis stockings is recommended in many cases, especially when sitting for long periods of time, such as during air travel. Furthermore, a supportive healthy lifestyle helps to reduce the risk of recurrence. Physical activity as well as a healthy diet and adequate fluid intake are very important. Smoking should also be stopped. After diagnosis with prothrombin mutation G20210A, regular follow-up appointments should be made with the general practitioner. If symptoms recur, the doctor should be consulted 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 pregnancy is desired, this condition should be discussed with the physician, as this increases the risk of miscarriage. The prognosis for prothrombin mutation G20210A when the above points are taken into account is relatively good. A generally reduced life expectancy cannot be assumed, but this depends in each case on the specific conditions of each affected person.
Here’s what you can do yourself
Self-help for prothrombin mutation G20210A lies mainly in the prevention of thrombi and their late effects. It is important to take anticoagulants prescribed by a doctor regularly and to avoid prolonged sitting and lying down without exercise. For long-haul flights outside Europe, it is essential that those affected wear thrombosis stockings and move around as much as possible on the plane. If the patient has a mainly sedentary occupation, regular exercise must also be ensured. When traveling to tropical climates, visiting saunas, and illnesses involving severe fluid loss, it is essential to increase the amount of fluid taken in to prevent the blood from thickening. Pregnant women must discuss the particular situation with their gynecologist. In them, close monitoring of blood clotting is especially important to prevent miscarriage. Those affected should always take unusual swellings in their extremities seriously and clarify them, as these could indicate thrombosis in the arm or leg. Symptoms that are more indicative of a gastrointestinal disorder, such as nausea, diarrhea and vomiting, can also point to a dangerous thrombosis, for example of the intestinal veins. Headaches that last unusually long or become stronger must also be clarified. A healthy lifestyle with a balanced diet and regular exercise has a positive effect on the cardiovascular system. Abstaining from smoking and, in female sufferers, taking birth control pills also reduce the risk of thrombosis.
