Description thrombophilia
Thrombophilia is a composite word from the Latin word thrombus – refers to a blood clot and Fili words expressing increased susceptibility to some storyline. Thrombophilia is thus increasedsusceptibility to blood clots.
Under normal circumstances, blood flowable liquid perfectly sealed in the circulation formed vessels.If there is a disruption of the integrity of this complex network and there is a risk of bleeding, the body at the site of injury to prevent blood clots.
Blood clot formation is a complex process involving a series of cells (mainly platelets) and substances which are permanently present in the blood. There are the so-called. Clotting factors(ie, substances that act on blood to clot formation – clot) and then also those whose functions is just the opposite, namely that blood coagulation preventing – called. Blockers coagulation and called.Fibrinolytic system (functions of substances that they belong to this group, the decomposition already formed precipitate). As can be seen, the whole blood clotting system is very complicated, however, due to this complexity is perhaps its good control at several levels so that they are always factors that act to coagulate, and factors that act against it, in equilibrium .
If the said balance is disturbed, disorders occur in blood clotting. This can be either in the sense minus – less clotting (eg. Hemophilia) and plus – higher clotting – thrombophilia.
The increased tendency to form clots (thrombophilia) may be hereditary. Every child inherits from his father and mother one gene for the trait (trait). If one of these genes affected by mutations and the other is okay, the child is called. Heterozygote and has an innate increased susceptibility to thrombus formation. In the event that damaged genes inherited from both the father and the mother, then it would be a homozygous for the trait. Homozygous for the mutation but the risk of thrombosis incomparably higher than that of the heterozygote.
Thus disability jednici have a congenital defect in their coagulation system, particularly affected blockers coagulation. In their genetic information is a mutation that causes malfunction of the substances involved in blood clotting, or its interference. These individuals thus have a high risk of developing the so-called. Thromboembolism and all its manifestations (see below).
Frequently thrombophilic mutations are in a larger number in a population of three.
The first is called. Leiden (Leiden is a city in the Netherlands, at which residents were first reported). In this congenital disease is not working properly, one of the blockers so-called coagulation. Factor V. In Europe, the carrier of this mutation every 20th person.
Other congenital thrombophilia mutation is a mutation in the gene for prothrombin (also mutations in the gene for factor II). The last is then a mutation in the MTHFR gene.
All these people, what they have in their genetic information present in at least one gene with thrombophilia mutations are more at risk of developing so-called. Thromboembolism (difference between thrombophilia and thromboembolic disease lies in the fact that in thromboembolic disease has been to develop symptoms – symptoms thrombosis, while thrombophilia have no clinical evidence does not). If there is a change in blood flow in the sense of deceleration or change coagulation properties of blood or damage to the vascular wall may be in the vascular bed on the walls of blood vessels (especially the veins where blood remains longer) to form clots – thrombi.Sometimes it happens that part or all of a thrombus breaks off from the wall and travels through the vascular system to the places where important clogged blood vessel and cause severe circulatory disorders of the area that a given vessel supplies. Depending on what the body is, then present with symptoms. The most common form of thromboembolic disease is called. Deep venous thrombosis,where the form mural thrombi in the deep veins, most commonly in the legs and in the area of the calf, knee, thigh and groin.
Thromboembolic diseases are at risk but only individuals who have thrombophilia mutation.Likewise, they can be prosecuted even people who have the right genes, however, are exposed to situations where blood sráženlivost increases for everyone. These situations will be discussed risk factors.
Risk factors for thrombophilia
Risk factors are either hereditary. As mentioned above, there is a congenital condition, prone to the formation of thrombosis, notably the Leiden mutation, which in combination with other factors may raise the risk of developing thrombosis in a range up to ten times the risk of unaffected individuals.
You also have an increased risk of developing the disease thrombophilia, if your family vyskytnul someone who had a deep vein thrombosis.
If you yourself have had deep vein thrombosis or complication – a pulmonary embolism.
Among the non-hereditary risk factors include a number of situations in which we are all exposed, and if they occur, may be with us to develop thrombosis.
Currently significantly increases the risk of developing thrombosis pill. Add to this there is a bearer (heterozygote) Leiden mutation, then this risk is even higher 30-35 times.
Likewise, the risk increases in women taking hormone replacement therapy. For wearers Leiden mutation increases risk 13 – 15 times.
Other situations in which rises the risk of developing thrombosis is pregnancy.
Each prolonged immobilization results in a slowing outflow veins of the lower extremities and therefore increased risk of developing thrombosis. For such a situation may occur partly at fixing limb in a cast, after a long travel by plane or car, after surgical intervention.
Higher tendency of the blood to clot causing chronic intestinal diseases and oncological diseases – cancer, among other diseases that increase the risk of thrombosis include nephrotic syndrome, heart failure, autoimmune diseases, varicose veins of the lower extremities.
The risk of developing deep vein thrombosis was also significantly raises the higher age groups (those over 60).
Higher risk people are obese or smoke.
Prevention thrombophilia
All prevention principles arising from the early prevention of risk factors for thrombosis.
It is important to understand their hereditary disposition. If your family thrombosis occurs, get screened for thrombophilia mutations.
Observe the principles of a healthy lifestyle, not smoke, eat healthily and regular exercise.
If you are going on a long journey, during which you will not move, it is very good from time to time to practice the lower limbs, and to help “stimulate” blood .. Just wring several feet.
If you begin a treatment in hospital, whether for surgery or hospitalization in the ward and you have a risk factor also inform your doctor whether your condition can comprehensively consider and you deploy the appropriate treatment.
Symptoms of thrombophilia
The actual thrombophilia more symptoms of the presence of thrombosis have not, are characterized as increased susceptibility to thrombus formation, however in the event that no longer occurs manifestation of the disease, then we speak of thromboembolic disease.
The most common form of thromboembolic disease is called. Deep venous thrombosis, which in the veins of the lower extremities generally consists of a blood clot. This implies the pain in the affected area, swelling her (his range is determined by the height cap), a sense of tension, limb acquires a bluish tint, but still warm. We can also see it poured veins beneath the skin surface. If you put the leg side by side, usually the one stronger than the other, the touch is usually more sensitive. When hanging a leg, the pain increases, for this reason also afflicted unable to walk or limp when walking.
Although the image is developed thrombosis seemed clear, there are other disabilities that manifest virtually the same – muscle rupture, arthropathy, lymphedema. Therefore, it is to issue a definite diagnosis of deep vein thrombosis necessary to conduct further investigations – especially lower extremity ultrasound.
Treatment for thrombophilia
In thrombophilia are particularly important measures of prevention of thrombosis.
Individual risk factors for thrombosis can be combined (eg. Pregnant woman with an inherited thrombophilia mutations). In this case, the majority of approaches to pharmacological called.Prophylactic (preventive) treatment – that is, prior to the formation of thrombosis at the moment when it is but the creation of highly probable. Part of prevention is early mobilization of patients after surgery what is, then rehabilitation dlouhodoběležících.
There are two basic groups of drugs – tzv.antikoagulancia. Both effects reduce your blood clotting – “thins the blood”, although every other mechanism.
Firstly, it is a substance called heparin. Currently available also are artificially produced heparins which have far better effects than the original heparin and low molecular weight heparins are called e.g. dalteparin, enoxaparin .. served by inserting under the skin (ie. Subcutaneously).
Secondly, it is the drug warfarin. Use of warfarin is highly effective, even so, that it may cause to a “dilution” treated that it causes bleeding. Therefore, it is necessary to closely monitor laboratory testing that will inform us whether a sufficient dose of the drug or is too high.
When you have already developed a thrombus is the goal of treatment of its dissolution. For this purpose, use of substances, called thrombolytics, – dissolving thrombus – now used tissue plasminogen activator, were previously it urikináza and streptokinase.
Therapy anticoagulants may be only temporarily in the course of time when the patient is most vulnerable to the development of thrombosis (e.g. operations).
In the event that a thromboembolic disease and thrombosis Moreover repeat therapy is life-long anticoagulation.
How can I help treat
Prevention is one of the most useful measure how the development of thrombosis even avoided.Anything you can do for this, already mentioned in the area of prevention, however: Live healthily, practice, do not smoke.
If in your family there are people who developed venous thrombosis, let us investigate whether you have any trombifilní mutation.
If you begin a treatment in hospital, whether for surgery or hospitalization in the ward and you have a risk factor also inform your doctor whether your condition can comprehensively consider and you deploy the appropriate treatment.
Complications thrombophilia
Thrombi that form in the deep veins may break off and float freely as veins up to the point where its size “stuck” and “clog” the vessel. These trombům then called emboli (clots Czech).
Among the most serious conditions that cause clots include pulmonary embolism. A thrombus that breaks off from its place of origin, travels through the venous system to the right heart, through which it is driven further into the pulmonary veins and into the lungs where they “stuck.”Oxygenation is significantly compromised and due to increased pressure in the right heart, which causes embolus may cause its failure.
Up to 25% of untreated deep vein thrombosis leads to the development of pulmonary embolism. If a patient develops a pulmonary embolism in 85% of patients had then this embolus origin in the deep venous system of the lower limbs.
Whether it is even pulmonary embolism occur, depending on the size of the embolus, which determines the extent of lung tissue. When small emboli, this condition does not occur when large emboli may lead to death.
Other names: hypercoagulable states, states with high blood clotting, increased tendency for blood clotting, thromboembolic disease