A prothrombin mutation – also known as a factor II mutation – is a change in DNA. In this case, affected individuals have a blood clotting disorder, which means that the blood clots much faster. This means patients are much more susceptible to thrombosis (blood clots) than people with normal blood clotting. The prothrombin mutation is classified as a genetic defect.
What is a prothrombin mutation?
If a prothrombin mutation is detected, there are changes in the genetic material that affect the blood‘s clotting factor. Prothrombin is one of the proteins and is an important factor in blood clotting. It ensures that natural blood clotting starts in the case of bleeding wounds and thus protects the person from bleeding to death. If a prothrombin mutation is present, more prothrombin is found in the patient’s blood. During bleeding, prothrombin is converted into thrombin, which in turn converts fibrinogen (another component of blood) into fibrin. Fibrin is a non-soluble blood component that causes the platelets (thrombocytes) to stick together, solidifying and enlarging the blood clot. Factor II – short for factor II mutation – is just one of many clotting factors in human DNA. In total, there are 13 different clotting factors [ranging from I (very strong clotting) to XIII (no clotting)], with the prothrombin mutation being one of the so-called “blood thickeners.”
Causes
The cause of prothrombin mutation is a gene defect. In this case, a so-called point mutation is present in the prothrombin gene, which is located at position 20210. The gene consists of several thousand points, of which exactly one point is genetically altered. The prothrombin mutation is hereditary, but can also occur by chance as a result of genetic damage. People with a prothrombin mutation have a very high clotting factor, which promotes the development of thromboses and embolisms. The prothrombin mutation should be considered a serious genetic defect, as it is often the trigger for myocardial infarction, apoplexy (stroke), as well as pulmonary embolism.
Typical symptoms and signs
- Blood clots more quickly
- Blood clots in the intestines or veins
- Embolism
- Arm pain
- Abdominal pain
Diagnosis and course
Blood clots in prothrombin mutation.
Diagnosis of prothrombin mutation is made by genetic testing. This is often preceded by a so-called quick test (rapid blood clotting test), which can be performed in any general practitioner’s office. If the blood coagulation is clearly elevated, a genetic test is usually ordered. Other important clues that may indicate a prothrombin mutation include blood clots that occur in adolescents as well as thromboses that appear in unusual body locations, such as the veins of the gastrointestinal tract, the eye, or the brain. If there is a familial component or if thromboses or embolisms occur very frequently, a genetic test for a prothrombin mutation should also be performed. If a prothrombin mutation is present, the course of the disease depends on the treatment of the defect. The genetic defect itself cannot be treated, but blood clotting can be influenced by means of blood-thinning drugs – so-called anticoagulants. It is important that affected persons – especially women – are treated as early as possible. Smoking, birth control pills and obesity favor thrombosis, so that the risk increases many times over, especially for these groups. Because this genetic defect is partly responsible for heart attacks and strokes, it is important that the prothrombin mutation be diagnosed and treated as early as possible.
Complications
As a result of the prothrombin mutation, affected individuals suffer from impaired blood clotting. This thus functions more quickly than in healthy people, so that clots can form in the veins or even in the intestines. Furthermore, the prothrombin mutation can cause pain in the arms or abdomen of the affected person. In the case of permanent pain, it is not uncommon for depression or other psychological upsets to occur, which significantly reduce the quality of life of the affected person. Complaints about the eyes can also occur.Furthermore, the risk of thrombosis is also significantly increased by the prothrombin mutation, so other risk factors should be eliminated. Treatment of the prothrombin mutation is usually carried out with the help of medication. No particular complications occur and the symptoms are relatively well limited. However, the affected person is dependent on a lifelong therapy, since a causal treatment of this disease is usually not possible. Furthermore, the patient is dependent on regular examinations. Life expectancy is not affected if treatment is timely and successful. A healthy lifestyle can limit the symptoms of prothrombin mutation as well.
When should you see a doctor?
In any case of prothrombin mutation, a visit to a doctor is necessary. There is usually no self-healing or improvement of symptoms with this condition unless treatment is initiated. The affected person is always dependent on treatment of the prothrombin mutation in order to avoid further complications and complaints. A doctor should be consulted if the blood clotting of the affected person is significantly disturbed by the prothrombin mutation. This can lead to very rapid clotting, with clots also occurring in the veins or even in the intestines. Likewise, the affected person often suffers from anemia, so that dizziness or malaise may occur. If these symptoms occur, a doctor must be consulted immediately. Likewise, a doctor must be consulted if the patient suffers from severe pain in the arms or abdomen, this pain occurs without any particular reason and significantly limits the patient’s life. Prothrombin mutation can be diagnosed by a general practitioner. Treatment is usually done with the help of medications and can limit the symptoms. In some circumstances, the prothrombin mutation limits the life expectancy of the affected person.
Treatment and therapy
There is no causal treatment for the prothrombin mutation. Medicine has not yet advanced to the point where genetic defects can be successfully treated. Because of this, the consequences must be treated, that is, clotting must be artificially reduced. The most effective way to treat the prothrombin mutation is with drugs that have an anticoagulant effect. These are, for example, heparin, acetylsalicylic acid (ASA, also known as aspirin) or so-called coumarins. Among other things, these drugs inhibit the conversion of prothrombin to thrombin (heparin), lower the formation of clotting factors in the liver (coumarins), and prevent platelets from clumping together to form a clot (ASA).
Prevention
The prothrombin mutation cannot be prevented in the medical sense because it is a hereditary disease or damage to the genetic material. To reduce the risk of thrombosis or embolism, the coagulation factor should always be controlled. Furthermore, prophylactic anticoagulant medication should be taken. For supportive treatment of factor II mutation or as a prophylactic measure, nicotine as well as birth control pills should be avoided because they significantly increase the risks of prothrombin mutation.
Follow-up
Prothrombin mutation (factor II mutation) is a change in genetic information and requires lifelong therapy to lower the risk of thrombosis and embolism. No causal therapy is available for this condition. Drug treatment with anticoagulants such as heparin is advised. This will try to avoid possible problems such as heart attacks, pulmonary embolisms or strokes. Wearing compression stockings is also recommended, especially when sitting for long periods of time, such as during air travel. Furthermore, a healthy diet in combination with sufficient physical activity helps to reduce the risk. Other approaches should include giving up addictive behaviors, such as smoking. After diagnosis with prothrombin mutation (Factor II mutation), regular follow-up appointments with the family doctor should take place. If a case is suspected, a physician should be consulted urgently. For women, a discussion with the gynecologist is important because oral contraceptives such as the pill can increase the risk of thrombosis.If pregnancy is desired, this should be consulted with the physician beforehand, as increased controls are necessary here to reduce the risk of miscarriage. The prognosis in prothrombin mutation (factor II mutation) is relatively positive. Life expectancy is similar to a healthy person as far as the above points are considered.
Here’s what you can do yourself
Self-help for a prothrombin mutation consists mainly in improving the quality of life. To do this, it is first and foremost necessary to take the anticoagulants prescribed by your doctor carefully. In order to prevent interactions, no additional medications may be taken without prior consultation with the physician, including seemingly harmless homeopathic preparations. Patients must have their coagulation factor checked regularly by their family doctor in order to be able to react to any changes and to prevent life-threatening complications such as pulmonary embolisms or strokes. Female patients should seek advice from their gynecologist regarding further contraceptive planning, as taking the pill leads to an increased risk of thrombosis and should therefore not be continued. A change of diet to a healthy and balanced diet, combined with regular exercise supports any necessary weight loss, relieves the cardiovascular system and ensures a greater sense of well-being. The additional renunciation of addictive substances such as nicotine also reduces the risk of blood clots. If you feel dizzy or unwell, you should first and foremost consider the possibility of anemia and consult a doctor immediately. The same applies to severe pain in the abdomen, legs or arms if this occurs for no apparent reason. If it is a clot, it can be treated early to prevent possible complications.
