By | June 10, 2022

Thrombophilia is when there is an increased tendency to blood clots (thrombosis). It can be congenital or acquired over the course of life.

What is thrombophilia?

In the case of thrombophilia, the affected persons tend to form blood clots or thrombosis in the blood vessels. There is also a risk of embolism, which is due to the changed properties of blood plasma, blood cells, vessel walls and blood flow. For autoimmune hepatitis dictionary definitions, please visit

Thrombophilia is either congenital or acquired over the course of life. In Europe and the USA, around 160 out of every 100,000 people develop a thrombosis within the veins each year. As people get older, their risk of a blood clot increases.


There are various possible causes for the development of thrombophilia. This includes, among other things, APC resistance ( Factor V Leiden mutation). Coagulation factor V (5) is an important part of the human blood coagulation system. It is part of the coagulation cascade.

This causes the thrombocytes (blood platelets) to clump together, which means that a wound can close quickly and stably. The breakdown of factor V is also important, as otherwise there is a risk of blood clots forming in other places. In such cases, there is talk of thrombophilia. Activated protein (APC) is used to inactivate factor V.

However, if there is APC resistance due to a mutation in coagulation factor V, a factor V Leiden mutation is present. Due to the mutation, factor V acquires resistance to the APC and cannot be inactivated. People between the ages of 20 and 40 are particularly affected. The risk of thrombosis is particularly high in women who take birth control pills.

Another cause of thrombophilia can be a deficiency in the S and C proteins. They form endogenous inhibitors for blood clot formation. The proteins break down and inactivate special coagulation factors such as factor V and factor VIII, so that excessive formation of blood clots is counteracted.

While protein C carries out 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 congenital.

Other genetic risk factors are a mutation of the MTHFR gene, an antithrombin deficiency, a prothrombin mutation, heparin-induced thrombocytopenia and the formation of antiphospholide antibodies, which are produced by the body and attack its own structures.

In addition, there are also several acquired risk factors that can result in the development of thrombophilia. These include old age, tobacco use, too little exercise, obesity, pregnancy, the use of estrogen-containing contraceptives, malignant diseases, cardiac insufficiency and immobilization due to diseases or surgical interventions.

In around 40 percent of all patients who suffer from thrombophilia, no specific cause can be found for the disease. In medicine, this is then referred to as idiopathic thrombophilia.

Symptoms, Ailments and Signs

The symptoms of thrombophilia vary. They depend on which vessel is narrowed or blocked. In most cases, thrombophilia is not diagnosed until a blood clot or embolism is examined. An embolism is a blockage of the artery. This can be in the lungs, brain or heart.

Thrombophilia often manifests itself in the deep veins of the legs. It becomes noticeable through leg pain, discoloration of the skin and swelling. The repeated occurrence of blood clots is an indication of thrombophilia. The clots can also form in unusual parts of the body such as the veins in the kidneys, intestines or spleen and in the cerebral vessels.

Diagnosis & course of disease

If blood clots appear more frequently, this leads the doctor to suspect that thrombophilia may be present. This is especially true if the clots appear before the age of 45 and run in families. The diagnosis of thrombophilia is made by several laboratory tests. A blood sample is taken for this purpose.

The blood sample is tested in a laboratory for APC resistance. Furthermore, the blood coagulation factors II and V, the proteins C and S as well as antithrombin are analyzed. Possible antibodies in the blood, which can also trigger thrombophilia, play an important role.

The course of thrombophilia depends on the particular trigger. The causes of genetic defects cannot be treated in this way. However, if the tendency to blood clots is recognized in good time, the risk of thrombosis can usually be significantly reduced.


In the worst case, thrombophilia can lead to the death of the person concerned. The internal organs or the brain can also be irreversibly damaged, so that the person affected suffers from disabilities after a seizure. However, the further course of the disease depends heavily on the exact region of the blood clot and the organ affected. A general prediction of symptoms and complications is therefore not possible.

Those affected primarily suffer from severe pain or swelling. The skin is often blue in color due to the lack of oxygen. If the blood clots occur in the internal organs, it can also lead to a loss of consciousness and also to the death of the person concerned. For this reason, immediate treatment by an emergency doctor is necessary.

The success of the treatment depends very much on the time at which the thrombophilia was diagnosed. The treatment itself can be done with the help of medication. Thrombosis stockings can also be used to relieve the symptoms. Complications usually do not arise. However, the life expectancy of the patient may be reduced due to the illness.

When should you go to the doctor?

A doctor should be consulted as soon as the person affected notices physical impairments that contribute to a reduced quality of life. Pain in the legs, circulatory disorders and irregular heart rhythms must be examined and treated. If the person concerned is no longer able to carry out usual tasks, he must be given medical care.

Discolouration of the skin, swelling or hardening of the body must be clarified by a doctor. If the affected person notices general functional disorders, an inner weakness or if he complains of a diffuse feeling of illness, he should consult a doctor. If he needs help to move or if there are restrictions in vocalization, these are alarm signals from the organism. Sweating, insomnia, headaches or feeling unwell are further signs of a health problem.

Since an unfavorable course of the disease can lead to the sudden death of the person concerned, a doctor’s visit is indicated at the first irregularities. Persistent or increasing symptoms should be presented to a doctor as soon as possible. A doctor is required in the event of shortness of breath, feelings of tightness and restricted mobility.

In acute situations, an emergency service should be alerted, as there is a risk of death. Loss of consciousness, memory disorders and behavioral problems must be examined by an emergency doctor immediately . Supporting persons present are obliged to provide first aid measures until the arrival of the rescue service.

Treatment & Therapy

In order to treat thrombophilia effectively, it is important to prevent the formation of blood clots. To this end, the patient should counteract the triggering risk factors. This is particularly true for congenital thrombophilia. For example, it is important to ensure sufficient exercise and to drink enough fluids on longer flights or journeys. Wearing special thrombosis stockings can also be helpful.

Some patients are also given medications that make the blood less able to clot. This primarily includes the active ingredient Marcumar, which is taken in tablet form and which acts as an antagonist to vitamin K in the body, which reduces the coagulability of the blood.


To prevent blood clots from developing as a result of thrombophilia, it is important to counteract the risk factors. These include, among other things, reducing obesity or giving up tobacco.


In the case of thrombophilia, those affected usually only have a few and only limited follow-up measures available. For this reason, patients should consult a doctor at the first sign of the disease so that further complications can be prevented. As a rule, self-healing is also not possible, so that those affected are usually always dependent on medical examination and treatment.

The sooner a doctor is consulted, the better the further course of the disease. In many cases, patients with thrombophilia are dependent on taking various medications. It is always important to ensure that it is taken regularly and that the dosage is correct in order to alleviate the symptoms properly and permanently.

If anything is unclear or you have any questions, consult a doctor first. Contact with other people affected by the disease can also be useful, as this can lead to an exchange of information on how to make dealing with the disease easier. In some cases, the disease can also limit the life expectancy of those affected, with the further course depending heavily on the time of diagnosis and a general prediction cannot therefore be made.

You can do that yourself

People who are prone to thrombosis should have regular medical examinations. In addition, various measures can be taken to reduce the risk of thrombosis.

The first step is to adapt the lifestyle to the thrombophilia. The diet should be healthy and balanced. Foods that have a negative impact on the symptoms should be avoided. Those affected should also move a lot. Endurance sports such as swimming or cycling support blood flow in the leg veins. Vein gymnastics also fulfills this purpose. Sports that require abrupt changes in strength, such as tennis or weightlifting, should be avoided. Foot exercises improve blood circulation and vein health. In addition, sufficient water should be drunk. Mineral water, tea or diluted fruit juices are well suited. Affected people should refrain from smoking and also avoid alcohol and caffeine.

The veins must not be constricted, for example by crossing your legs or bending your knees sharply. If necessary, compression stockings must be worn. Special support stockings support the veins and prevent thrombosis. Women should consult their gynecologist about contraceptives , as certain preparations can increase the risk of thrombosis. A detailed consultation with the doctor is also necessary before hormone replacement therapy during the menopause.