Prothrombin mutation (factor II mutation)

As Prothrombin mutation - also as Factor II mutation known - a change in DNA is called. The affected person has a bleeding disorder, which means that the blood coagulates much faster. For patients, this means that they 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?

Will be a Prothrombin mutation found, there are changes in the genome that affect the coagulation factor of the blood. Prothrombin is one of the proteins and is an important factor in blood clotting. This ensures that natural blood clotting starts in bleeding wounds and thus protects people from bleeding to death.

If there is a prothrombin mutation, more prothrombin is found in the patient's blood. During bleeding, the prothrombin is converted into thrombin, which in turn converts the fibrinogen (another part of the blood) into fibrin. Fibrin is an insoluble part of the blood that binds the blood platelets (thrombocytes) together and solidifies and enlarges the blood clot.

Factor II - short for factor II mutation - is just one of many clotting factors in human DNA. There are a total of 13 different coagulation factors [from I (very strong coagulation) to XIII (no coagulation)], whereby the prothrombin mutation is one of the so-called "blood thickeners".

causes

Cause of the Prothrombin mutation is a genetic defect. In this case, the prothrombin gene has a so-called point mutation, which is located at position 20210. The gene consists of several thousand points, of which exactly one point is genetically modified.

The prothrombin mutation is inheritable, but it can also occur accidentally as a result of genetic damage. People with a prothrombin mutation have a very high coagulation factor, which favors the development of thromboses and embolisms. The prothrombin mutation is to be regarded as a serious genetic defect, as it is often the trigger for heart attacks, apoplexy (stroke) and pulmonary embolisms.

Typical symptoms & signs

• Blood coagulates faster
• Blood clots in the intestines or veins
• embolism
• Arm pain
• stomach pain

Diagnosis & course

The diagnosis of Prothrombin mutation is done by means of a genetic test. This is often preceded by a so-called quick test (rapid test for blood clotting), which can be carried out in any general practitioner’s practice. If there is a significantly increased blood coagulation, then usually initiated a genetic test.

Other important clues that suggest a prothrombin mutation include Blood clots that occur in adolescents and thromboses that appear in unusual parts of the body, such as in the veins of the gastrointestinal tract, eye, or 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 carried out here.

If there is a prothrombin mutation, the course 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 medication - so-called anticoagulants. It is important that those affected - especially women - are treated as early as possible.

Smoking, birth control pills and being overweight all promote thrombosis, so that the risk increases many times over, especially for these groups. Since this genetic defect is one of the causes of heart attacks and strokes, it is important that the prothrombin mutation is diagnosed and treated as early as possible.

Complications

Due to the prothrombin mutation, those affected suffer from impaired blood clotting. This works faster than in healthy people, so that clots can occur that can arise in the veins or in the intestines. Furthermore, the prothrombin mutation can lead to pain in the arms or stomach of the person concerned.

In the case of permanent pain, depression or other psychological upsets often occur, which significantly reduce the quality of life of those affected. Eye complaints can also occur. Furthermore, the risk of thrombosis is significantly increased by the prothrombin mutation, so that other risk factors should be eliminated. Treatment of the prothrombin mutation is usually done with the help of drugs. There are no particular complications and the symptoms are relatively well limited.

The affected person is, however, dependent on lifelong therapy, since a causal treatment of this disease is usually not possible. Furthermore, the patient is dependent on regular examinations. Timely and successful treatment does not affect life expectancy. A healthy lifestyle can also limit the symptoms of the prothrombin mutation.

When should you go to the doctor?

In the case of the prothrombin mutation, a visit to a doctor is always necessary. As a rule, this disease does not heal itself and the symptoms do not improve if no treatment is initiated. The affected person is always dependent on treatment for the prothrombin mutation in order to avoid further complications and symptoms.

A doctor should be consulted if the blood clotting of the person concerned is severely disturbed by the prothrombin mutation. This can lead to very rapid clotting, with clots also appearing in the veins or even in the intestines. The person concerned also often suffers from anemia, which can lead to dizziness or malaise. If these symptoms arise, a doctor should be consulted immediately. Likewise, a doctor must be consulted if the patient suffers from severe pain in the arms or stomach, this pain occurs for no particular reason and significantly limits the patient's life.

The prothrombin mutation can be diagnosed by a general practitioner. Treatment is usually carried out with the help of medication and can limit the symptoms. The life expectancy of the person affected may be restricted by the prothrombin mutation.

Treatment & Therapy

The Prothrombin mutation cannot be treated causally. Medicine is not yet advanced enough to successfully treat genetic defects. Because of this, the consequences must be treated, i.e. the coagulation must be artificially reduced.

The most effective way to treat the prothrombin mutation is with drugs that have an anticoagulant effect. These are e.g. Heparin, acetylsalicylic acid (ASA, also known as aspirin) or so-called coumarins. These drugs inhibit i.a.the conversion of prothrombin into thrombin (heparin), reduce the formation of clotting factors in the liver (coumarins) and prevent the blood platelets from clumping together to form a clot (ASA).

prevention

Of the Prothrombin mutation cannot be prevented in the medical sense, as this is a hereditary disease or damage to the genetic make-up. The coagulation factor should always be monitored to reduce the risk of thrombosis or embolism.

Furthermore, prophylactic anticoagulant medication should be taken. For the supportive treatment of the factor II mutation or as a prophylactic measure, nicotine and the contraceptive pill should be avoided, as they considerably increase the risks of the prothrombin mutation.

Aftercare

The prothrombin mutation (factor II mutation) is a change in the genetic information and requires lifelong therapy to reduce the risk of thrombosis and embolism. No causal therapy is possible for this disease. Drug treatment with anticoagulants (anticoagulants) such as heparin is advisable. This tries to avoid possible problems such as heart attacks, pulmonary embolisms or strokes.

Wearing compression stockings is also recommended, especially when sitting for a long time, such as when traveling by air. 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 the diagnosis with the prothrombin mutation (factor II mutation), regular follow-up appointments should be made with the family doctor. In case of suspicion, a doctor should be consulted urgently. It is important to talk to a gynecologist for women, as oral contraceptives like the pill can increase the risk of thrombosis.

If pregnancy is desired, this should be consulted with the doctor beforehand, as more controls are necessary in order to reduce the risk of miscarriages. The prognosis for prothrombin mutations (factor II mutation) is relatively positive. Life expectancy is similar to that of a healthy person as far as the above points are taken into account.

You can do that yourself

Self-help with a prothrombin mutation is mainly about improving the quality of life. For this it is primarily necessary to carefully take the anticoagulants prescribed by the doctor. In order to prevent interactions, no additional medication may be taken without first consulting a doctor, including apparently harmless homeopathic preparations.

Those affected 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 embolism or strokes. Female patients should seek advice from their gynecologist with regard to further contraception planning, since taking the pill increases the risk of thrombosis and must therefore no longer be used.

A change in diet to a healthy and balanced diet, combined with regular exercise, supports any necessary weight loss, relieves the cardiovascular system and ensures greater wellbeing. The additional avoidance of addictive substances such as nicotine also reduces the risk of blood clots.

If you feel dizzy or feel unwell, you must always think about a possible 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 this is a clot, it can be treated early to prevent possible complications.