Thrombophilia is when there is an increased tendency to blood clots (thromboses). It can be both congenital and acquired during life.
What is thrombophilia?
In thrombophilia, affected individuals tend to develop blood clots, or thromboses, in the blood vessels. This also carries the risk of embolism, which is due to the altered properties of blood plasma, blood cells, vessel walls, and blood flow. Thrombophilia is either congenital or acquired during life. In Europe and the USA, about 160 out of every 100,000 people contract thrombosis within the veins each year. The older a person gets, the more the risk of a blood clot increases.
Causes
Various causes can be considered for the development of thrombophilia. Among them is APC resistance (factor V Leiden mutation). Blood clotting factor V (5) is a major component of the human blood clotting system. It is part of the clotting cascade. This causes the platelets (thrombocytes) to clump together firmly, allowing a wound to close stably and quickly. Also important is the breakdown of factor V, otherwise there is a risk of blood clots forming at other sites. In such cases, there is talk of thrombophilia. In order to inactivate factor V, activated protein (APC) is used. However, if there is APC resistance due to a mutation of clotting factor V, a factor V Leiden mutation is present. Due to the mutation, factor V achieves resistance to APC and cannot be inactivated. People between 20 and 40 years of age are particularly affected. The risk of thrombosis is considered to be particularly high in women who take the birth control pill. Another cause of thrombophilia can be a deficiency of the proteins S and C
proteins. They form the body’s own inhibitors of blood clot formation. The proteins cleave and inactivate special clotting factors such as factor V and factor VIII, thus counteracting excessive blood clot formation. While protein C performs the cleavage, protein S serves as an auxiliary enzyme. If there is a deficiency of these proteins, this leads to thrombophilia. The most common causes of the deficiency include liver disease or blood poisoning. Sometimes the deficiency is already congenital. Other genetic risk factors include a mutation of the MTHFR gene, antithrombin deficiency, prothrombin mutation, heparin-induced thrombocytopenia, and the formation of antiphospholide antibodies, which are produced by the body and attack its own structures. In addition, however, there are several acquired risk factors that can result in the development of thrombophilia. These include older age, tobacco use, insufficient exercise, obesity, pregnancy, use of estrogen-containing contraceptives, malignant diseases, heart failure, and immobilization due to disease or surgery. In about 40 percent of all patients suffering from thrombophilia, no specific cause for the disease can be found. In medicine, this is referred to as idiopathic thrombophilia.
Symptoms, complaints, and signs
The symptoms of thrombophilia vary. They depend on which vessel has a narrowing or blockage. In most cases, thrombophilia is not detected until a blood clot or embolism is examined. In an embolism, there is an arterial blockage. This can exist in the lungs, brain or heart. Thrombophilia is often seen in the deep veins of the legs. It becomes noticeable through leg pain, discoloration of the skin and swelling. Repeated occurrence of blood clots is considered an indication of thrombophilia. In this case, the clots can also form in unusual regions of the body, such as the veins in the kidneys, intestines, or spleen, as well as in the brain vessels.
Diagnosis and course of the disease
If blood clots appear more frequently, this leads the physician to suspect that thrombophilia may be present. This is especially true if the clots occur before age 45 and run in families. Diagnosis of thrombophilia is made by several laboratory tests. For this purpose, a blood sample is taken.The blood sample is analyzed in a laboratory for APC resistance. Furthermore, blood clotting factors II and V, proteins C and S, and antithrombin are analyzed. An important role is played by possible antibodies in the blood, which are also possible triggers of thrombophilia. The course of thrombophilia depends on the particular trigger. Thus, the causes of genetic defects cannot be treated. However, if the tendency to blood clots is detected in time, the risk of thrombosis can usually be significantly reduced.
Complications
In the worst case, thrombophilia can lead to the death of the affected person. This can also cause irreversible damage to the internal organs or even the brain, so that the affected person suffers from disabilities after an attack. However, the further course of the disease strongly depends on the exact region of the blood clot and the organ affected. A general prediction of the symptoms and complications is therefore not possible. Those affected primarily suffer from severe pain or swelling. Often the skin is also blue due to the lack of oxygen. If the blood clots occur on the internal organs, it can also lead to a loss of consciousness and furthermore also to the death of the affected person. For this reason, immediate treatment by an emergency physician is necessary in this case. The success of the treatment depends very much on the time of the diagnosis of the thrombophilia. The treatment itself can be carried out with the help of medication. Thrombosis stockings can also be used to alleviate the symptoms. Complications do not usually occur. However, it is possible that the patient’s life expectancy may be alleviated due to the disease.
When should you see a doctor?
A physician should be consulted as soon as the affected person notices physical impairments that contribute to a reduced quality of life. Pain in the legs, disturbances in blood circulation, and irregularities in heart rhythm should be examined and treated. If the affected person is no longer able to perform familiar tasks, he or she must receive medical care. Discoloration of the skin appearance, swelling or hardening of the body must be medically clarified. If the affected person notices general functional disorders, internal weakness or complains of a diffuse feeling of illness, he should consult a doctor. If the patient needs help to move around or has difficulty making sounds, these are alarm signals from the organism. Sweating, sleep disturbances, headaches or malaise are further signs of a health disorder. Since an unfavorable course of the disease can lead to sudden death of the affected person, a visit to the doctor is already indicated at the first irregularities. Persistent or increasing symptoms should be presented to a doctor as soon as possible. In case of shortness of breath, tightness as well as restrictions of movement a doctor is needed. In acute situations, an ambulance should be alerted, as there is a danger to life. A loss of consciousness, disturbances of the memory activity as well as behavioral abnormalities must be examined immediately by an emergency physician. Supporting persons present are obliged to provide first aid measures until the arrival of the rescue service.
Treatment and therapy
To effectively treat thrombophilia, it is important to prevent the development of blood clots. To this end, the patient should counteract the triggering risk factors. This is particularly true for congenital thrombophilias. For example, it is important to ensure sufficient exercise and drink enough fluids on long flights or journeys. Wearing special thrombosis stockings can also be helpful. Some patients are also given drugs that make the blood less able to clot. These include first and foremost the active ingredient Marcumar, which is taken in tablet form and acts as an antagonist of vitamin K in the organism, reducing the blood’s ability to clot.
Prevention
To prevent thrombophilia from causing blood clots, it is important to counteract the risk factors. These include reducing obesity or abstaining from tobacco.
Follow-up
Affected patients with thrombophilia usually have only a few and also limited measures of aftercare available to them.For this reason, patients should see a doctor at the first signs of the disease so that further complications can be prevented. As a rule, the disease cannot heal on its own, so that those affected are always dependent on medical examination and treatment. The earlier a doctor is consulted, the better the further course of the disease usually is. In many cases, patients with thrombophilia are dependent on taking various medications. It is always important to ensure that the medication is taken regularly and in the correct dosage in order to alleviate the symptoms properly and permanently. If there are any uncertainties or questions, a doctor should be consulted first. It can also be useful to contact other people affected by the disease, as this can lead to an exchange of information on how to deal with the disease more easily. In this context, the disease can also limit the life expectancy of the affected person in some cases, although the further course is strongly dependent on the time of diagnosis and a general prediction can therefore not be made.
What you can do yourself
Individuals who are prone to thrombosis should have regular medical checkups. Accompanying this, various measures can be taken to reduce the risk of thrombosis. First of all, it is important to adapt the lifestyle to the thrombophilia. The diet should be healthy and balanced. Foods that have a negative influence on the symptoms should be avoided. Those affected should also get plenty of exercise. Endurance sports such as swimming or cycling support the blood flow in the leg veins. Vein gymnastics also serve this purpose. Sports that require abrupt changes in strength, such as tennis or weight lifting, should be avoided. Foot exercises improve blood circulation and the health of the veins. In addition, sufficient water should be drunk. Mineral water, tea or diluted fruit juices are well suited. Affected persons should refrain from smoking and also avoid alcohol and caffeine. The veins must not be constricted, for example, by crossing the legs or bending the knees sharply. If necessary, compression stockings must be worn. Special support stockings support the veins and prevent thrombosis. Women should consult their gynecologist regarding contraceptives, as certain preparations can increase the risk of thrombosis. Detailed consultation with the physician is also necessary before hormone replacement therapy during menopause.
