Thrombophilia

Description:

The thrombophilia is a state at which blood has the increased tendency to formation of blood clots. Clots can cause problems, such as the deep vein thrombosis (DVT) and the pulmonary embolism (PE). There are various types of a thrombophilia which are subdivided on hereditary and acquired. Often the thrombophilia proceeds softly, and many people with a thrombophilia have no problems with health. Blood tests can diagnose a problem. The thrombophilia not always demands treatment, but some people have to take aspirin or warfarin.
In an organism there is a natural process of coagulation in blood which is broken at a thrombophilia.
Process of normal coagulability  of blood is called a hemostasis. The hemostasis helps to stop bleeding in case of an injury or other morbid condition. When the blood vessel is traumatized, blood coagulation process works. It is chain reaction of various chemicals in blood which are called coagulation factors. A blood coagulation promotes formation of a clot (blood clot) which sticks to the damaged part circulatory to a vessel. Formation of a clot is also promoted by properties of thrombocytes.
In blood there are also natural chemicals which work against coagulation of system to stop an excessive blood coagulation.
The thrombophilia occurs if the normal balance of coagulant system is broken. In blood there can be too many factors of coagulability of blood, or it is not enough substances which oppose a blood coagulation.
The thrombophilia can cause undesirable clots. It does not mean that at each person with a thrombophilia blood clots form.  But it means that the patient has higher risk of a thrombogenesis, than at other population.

Thrombophilias can be divided on hereditary or acquired.
The inherited types of a thrombophilia  are genetically caused, and can be transferred from parents to children.
The acquired thrombophilias are not inherited, that is they have nothing in common with genes. As a rule, the acquired thrombophilias are shown at mature age. They can result from other morbid conditions and diseases which are suffered by the patient, or they can arise because of problems with immune system.
Allocate also mixed thrombophilia which develops as because of genetic, not genetic factors.

Thrombophilia symptoms:

Even if the patient suffers from a thrombophilia, at him any symptoms can not be observed. At many people with a thrombophilia blood clots do not form.
However, if there is blood clot, characteristic symptoms appear. Blood clots can be formed in arteries and veins. Arteries blood vessels accept blood from heart to bodies and tissues of a body. Veins are the blood vessels bringing blood back to heart from other parts of a body.
Blood clot in a vein is the most widespread problem at a thrombophilia. This state is called venous thrombosis.
Possible symptoms:
1. Pain and hypostasis of legs. These symptoms arise at a deep vein thrombosis.
2. Blood clot can reach heart and lungs that leads to a pulmonary embolism. Possible symptoms include stethalgias, pains at a deep breath, an asthma or, more rare, a collapse.
3. Some types of a thrombophilia can cause a blood clot in the unusual place, for example, in a brain, intestines or a liver. It can cause pain symptoms a stomach, cephalalgias. Thrombosis in veins of a liver is called Badda-Kiari's syndrome.
Blood clot in an artery can be observed at some types of a thrombophilia. This state is called arterial thrombosis. Depending on the affected artery blood clot can cause a stroke, heart attack or problems with a placenta during pregnancy. Thus, possible symptoms of arterial thromboses because of a thrombophilia are:
1. A stroke at relatively young age.
2. Repeated abortions.
3. Pregnancy complications: preeclampsia, decrease in growth of a fruit or, more rare, pre-natal death of a fruit.

Thrombophilia types:

Hereditary thrombophilias.
1. V Leiden factor. Quite often this pathology occurs at people of the European origin, and about 1 of 20 Europeans are carriers of a factor of the V Leiden. This gene influences part V of a factor of coagulation that does process of coagulation by longer. At the same time the risk of development of blood clots in veins approximately by eight times increases that still is rather low risk therefore at most of people with the V Leiden factor complications do not develop. Some people inherit two factors of the V Leiden - one gene from each parent (known as "homozygous the V Leiden factor). This state less widespread, but at it risk of complications is much higher (the risk of a thrombogenesis increases by 80 times).
2. Deficit of a protein of Page. Protein C is natural chemical anticoagulant in blood. Deficit can be genetic, or owing to other conditions, such as diseases of kidneys. For determination of risk at this pathology it is necessary to establish whether close relatives had thrombogenesis cases. If the child inherits two genes with deficit of a protein With (on one from each parent that happens very seldom), it will have more serious problems. The thrombogenesis already soon after the birth  (the state called Fulminans purpura) is possible. This state is treated by a protein concentrate With and anticoagulants.
3. Deficit of a protein of S. Protein S is also natural chemical anticoagulant in blood. Deficit of a protein of S develops seldom. The risk of formation of a blood clot fluctuates in various families.
4. Deficit of antithrombin. Antithrombin - one more  natural anticoagulant of blood. There are various types of deficit of antithrombin: hereditary and acquired. The hereditary form meets seldom, and comes to light approximately at 1 of 2000 people.
The risk of developing of blood clots fluctuates, but can be increased at 25-50 times in comparison with other population. At this pathology the clot can form not only in legs and lungs, and also in veins of hands, intestines, a brain or a liver. About 1 of 2 people with deficit of antithrombin blood clot forms aged up to 30 years, but others can live up to an old age without problems.

At deficit of antithrombin long-term reception of warfarin is recommended. Besides, treatment can be appointed an antithrombin concentrate when there is higher risk of developing of blood clots - for example if at the patient operation is planned.
At pregnancy, treatment by anticoagulants, as a rule, is necessary. The antithrombin concentrate can be also used.

5. Dysfibrinogenemia. It is rare genetic defect at which normal function of fibrin is broken. At the same time a blood coagulation and/or the raised bleeding can be increased.

6. The combined hereditary thrombophilias. Some people inherit more than one gene of a thrombophilia. At the combined thrombophilia the risk of development of blood clots is multiplied.
The acquired thrombophilias.
The acquired thrombophilias are not inherited, and usually begins at mature age.
1. Anti-phospholipidic syndrome.
This syndrome is also known as Hughes's syndrome. It is caused by anti-phospholipidic antibodies. APS as sometimes call an anti-phospholipidic syndrome for brevity, can become the reason of blood clots in arteries and small blood vessels, and also in veins.
APS can influence pregnancy in certain cases. Many women with APS have no problems during pregnancy. Nevertheless, APS can lead to an abortion or other problems - restriction of growth of a fruit, preeclampsia or, more rare, death of a fruit. These problems can be reduced by prevention.
APS can treat by means of low doses of aspirin. If the patient already had a blood clot, then warfarin is, as a rule, recommended.

The mixed thrombophilias.
They are caused by both the genetic, and not genetic reasons.
1. Gipergomotsisteinemiya. At this pathology the increased level of the chemical called гомоцистеин in blood which as it is considered, increases risk of arterial and venous blood clots because гомоцистеин damages blood vessels is observed. For treatment appoint B12 vitamin and folic acid.
2. Paroxysmal night haemoglobinuria. This rare state influencing marrow. It can lead to clots of a venous blood, is frequent in unusual places, such as veins of intestines, a liver or a brain.
3. The raised factor of VIII. This pathology is connected with abnormally high levels of a factor of VIII which is one of natural blood-coagulation factors. At increase in a factor the 8th risk of a thrombogenesis increases approximately by 6 times.

Diagnosis:

The thrombophilia can be suspected if the blood relative had thrombosis at young age (up to 40 years), or if thrombosis which did not become surprise develops, considering age and the general state of health of the patient.
The thrombophilia is diagnosed on blood tests.
Examination is conducted in several weeks or months after an episode of a deep vein thrombosis or a pulmonary embolism as existence of this pathology can affect results. The break from reception of anticoagulants within 4-6 weeks is usually necessary. The test for a thrombophilia has to be postponed for term of 8 weeks after the delivery as results during pregnancy can be doubtful.
For the test the blood sample undertakes, parts of process of coagulation are analyzed. As a rule, tests are carried out in two steps. The first stage assumes assessment of the main indicators. If on the first a stage pathology is found, the second stage which assumes more careful research is carried out.
Thus, negative tests do not exclude an opportunity that at you is inherited to increase risk of developing of blood clots.
Testing for a thrombophilia is shown in the following situations:
-  in case of venous thrombosis or a pulmonary embolism aged up to 40 years;
- at  repeated episodes of venous thrombosis or pulmonary embolism, or thrombophlebitis (inflammation of veins);
- at fibrinferments in atypical places (for example, abdominal organs or a brain);
- inexplicable fibrinferments at newborns;
- at babies and children with a rare state which is called Fulminans purpura;
- at a skin necrosis at the expense of drugs, such as warfarin;
- if the patient has relatives with certain types of high risk of a thrombophilia, for example, deficit of proteins C and S.
- at fibrinferments at the pregnant woman;
- in the presence of the family anamnesis of venous thrombosis, at least, at two relatives;
- at other diseases: at a repeated abortion or death of a fruit, the idiopathic Werlhof's disease (IWD), the system lupus erythematosus (SLE).

Treatment of a thrombophilia:

At the first stage for the patient and the doctor, it is important to define risk of formation of blood clots. This risk depends on a combination of factors, such as:
1. What type of a thrombophilia is available for the patient (some of them have higher risk of a thrombogenesis, than others).
2. Age, weight, a way of life and other diseases at the patient.
3. Real pregnancy or recent childbirth.
4. Formation of blood clots in the anamnesis.
5. The hereditary anamnesis on a thrombogenesis.
Possible methods of treatment of a thrombophilia are:
1. Low doses of aspirin.
Low doses of aspirin suppress action of thrombocytes, thus, can help to prevent formation of blood clots. It can also help to prevent an abortion or complications of pregnancy at some types of a thrombophilia.
2. Treatment by anticoagulants.
Anticoagulating therapy is often called blood fluidifying. However, this method of treatment actually does not liquefy blood. It changes certain chemicals in blood to slow down coagulation process. Anticoagulants are not dissolved by blood clot. Anticoagulants can reduce probability of a thrombogenesis considerably. These drugs are usually used for treatment of venous thromboses and a pulmonary embolism.
At a thrombophilia anticoagulant can be recommended if:
- in the presence of blood clot to prevent one more;
- at high risk of formation of blood clot;
- in case of pregnancy, within 6 weeks after the delivery, or in case of a forced motionless way of life  during the long period.
There are two main types of anticoagulant: heparin and warfarin. Heparin is applied in the form of injections one or twice a day. Warfarin is accepted in the form of tablets once a day.
Warfarin is usual anticoagulant. Nevertheless, the period when warfarin begins to show anticoagulating a svoysvtv, can take up to several days. Thus, heparin injections (often are given only subcutaneously) are used along with warfarin in the first few days (usually 5 days) for immediate effect if at the patient it was already formed. In the absence of blood clot reception of warfarin is not accompanied with heparin injections.
The purpose of therapy consists in picking up  a warfarin dose so, blood was not turned easily, or, on the contrary, too long that can cause problems with bleeding. The patient needs to carry out regular blood tests, first of all, of MNO while it accepts warfarin. The dose is established individually depending on results of blood test. MNO of blood  measures ability of a blood coagulation.
Heparin is injection anticoagulant.
Heparin with a low molecular weight is entered into skin on the lower part of a stomach. Various doses are used for prevention and treatment of the existing clots.
Treatment of a thrombophilia during pregnancy.
Treatment of a thrombophilia can be various during pregnancy because:
1. Some women with a certain type of a thrombophilia are recommended to accept low doses of aspirin during pregnancy to prevent an abortion or complications of pregnancy.
2. Pregnancy increases risk of venous thrombosis - it belongs to all pregnancy and especially by the period up to 6 weeks after the delivery. Thus, treatment by anticoagulants can be recommended to the patient during pregnancy or after the delivery. It will depend on thrombophilia type.
3. At reception of warfarin transfer into heparin is usually recommended. It is connected with the fact that heparin is safer for a fruit (there is a considerable probability that warfarin can cause anomalies of fetation). As heparin, and warfarin are safe for breastfeeding.