Latent thrombophilia. Who needs to pass genetic studies for a hereditary form of thrombophilia. Does a newborn need an examination?

Thrombophilia is a very dangerous and difficult to treat disease. This term refers to the predisposition of the body to the formation of blood clots in the vessels, which are distinguished by their ability to recur and have extensive localization. This disease may be hereditary or acquired. The pathology is most often based on extremely high blood clotting.

Thrombophilia is especially dangerous for pregnant women. Full development the child largely depends on the good blood circulation of his mother, because through the blood the baby receives oxygen and nutrients. The formation of blood clots disrupts this process and provokes various pathologies during pregnancy. Moreover, thrombophilia can play a fatal role for both the baby and his mother.

Most often, thrombophilia is hidden, so most women hear an unpleasant diagnosis for the first time only after a detailed examination of the failure. desired pregnancy. Meanwhile, pathology has a number pronounced signs, which patients either ignore or confuse with symptoms of vegetative-vascular dystonia. Thrombophilia has a very strong influence Therefore, the issue of diagnosis, treatment and prevention of this disease is of particular importance when planning pregnancy.

Thrombophilia during pregnancy: how the disease occurs

Acquired thrombophilia develops in humans as a response to various injuries and operations. A congenital (genetic) type of pathology is transmitted from parents to children, and in some cases arises on the basis of some kind of mutation. For a long time, genetic thrombophilia is present in the body in a latent form, outwardly not manifesting itself in any way.

The appearance of visible symptoms of the disease is facilitated by factors such as surgery, immobilization of limbs in case of injury or fracture, pregnancy.

How can such a natural state of the female body as pregnancy affect the development of pathology? In fact, bearing a baby and circulatory disorders have many points of contact.

Increased blood clotting is a normal physiological reaction of the body to successful conception. So the body "insures" a woman from death as a result of a large blood loss when a baby is born, on the basis of spontaneous abortion or placental abruption. However, in the form of thrombophilia, this idea of ​​​​nature turns against the health of a pregnant woman: due to high blood clotting, blood vessels are blocked by blood clots, which can provoke an early miscarriage or premature birth at the end of pregnancy.

Latent hereditary thrombophilia most often manifests itself during pregnancy. With the advent of a new life inside a woman, another circle of blood circulation is formed in her body - the placental one. This phenomenon, of course, is an additional burden for the body and can be considered as the main prerequisite for the development of genetic thrombophilia during pregnancy.

The danger of congenital thrombophilia for humans

Thrombophilia is not great danger for its carrier, but during pregnancy the situation changes radically. On the basis of hereditary pathology, the probability of developing thrombosis in a future mother increases by more than 5 times. It also increases the risk of miscarriage. If thrombophilia first manifested itself during pregnancy, childbirth almost always occurs before the due date - from about 35 to 37 weeks. With this development of events, it is safe to say that the pregnant woman was lucky. At the same time, cases of missed pregnancy with thrombophilia are quite common.

In another case, the appearance of vascular thrombi causes the development of placental insufficiency, which causes oxygen starvation of the fetus and growth retardation. If the baby does not receive the nutrients he needs in full, this will lead to irreversible processes of intrauterine development, including:

• detachment of the placental membrane;
• various malformations and fetal growth retardation;
• intrauterine death of the baby;
• spontaneous miscarriage;
• preeclampsia;
• preeclampsia;
• eclampsia;
• premature birth.

As you can see, the consequences of thrombophilia during pregnancy are more than deplorable.

The first most dangerous period of time falls on the period after the tenth week intrauterine life fetus. Until this period, there is no information on the specifics of the impact of pathology on the course of pregnancy. With the beginning of the second trimester, the risk of developing complications due to thrombophilia is somewhat reduced and, in general, this period proceeds calmly. The second dangerous period of time comes after 30 weeks of pregnancy, when the expectant mother may face complicated preeclampsia or placental insufficiency.

Diagnosis of thrombophilia during pregnancy

Despite some specific signs(“lead” legs, constant physical emptiness, painful sensations in the legs), it is not easy to diagnose thrombophlebitis based on the results of examination and conversation with the patient. For this there are special methods diagnostics are expensive. And since cases of thrombophilia occur in only 0.1 - 0.5% of expectant mothers, it is simply not advisable to send everyone for a complex examination. In this state of affairs, women only find out about their diagnosis after one or more unsuccessful pregnancies.

The absolute indicator for examination for the detection of pathology are the following alarming "bells":

• genetic thrombophilia in any of the close relatives;
• inconsistency of the parameters of the child with the gestational age;
• repeated miscarriages and other indicators of habitual miscarriage;
• severe complications in previous pregnancies;
• the formation of blood clots due to treatment with hormonal contraceptives;
• the presence of small hemorrhages in the skin or mucous membranes in a newborn baby.

The main biological material that is examined to confirm this diagnosis is blood. An analysis for thrombophilia during pregnancy is carried out in stages:

• at the first stage, blood is screened, which makes it possible to detect the link of the coagulation system in which the violation occurred;
• at the second stage, a specific analysis is carried out to detect pathology during pregnancy.

Thanks to screening tests, the doctor receives comprehensive information about the condition of the patient suffering from thrombophilia.

Planning pregnancy with thrombophilia

The necessary measures to prevent the development of thrombophilia are ideally carried out even before the intended conception. Treatment, started on time, will contribute to successful placentation and secure attachment of the embryo to the uterine wall. If therapy is started late in pregnancy, there is not much chance for a woman to bear a fetus without significant complications. When planning motherhood, a woman must observe the following precautionary measures:

• control of foci of infection, which are most often localized in the genital area and in the mouth. Presence inflammatory process in these places can provoke the appearance of blood clots;
• taking anticoagulants (drugs that inhibit increased blood clotting) after serious surgical operations, as well as after minimally invasive intervention;
• compliance with anticoagulant treatment throughout pregnancy and for 6 weeks postpartum.

In the preventive therapy of thrombophilia, folic acid, low molecular weight heparin, preparations of B vitamins and natural progesterone, antiplatelet agents and omega-3 fatty acids are used.

Thrombophilia during pregnancy: how to carry a baby

Pregnant women with thrombophilia are on a special list. In the process of managing such patients, the doctor pays great attention so diagnostic methods, How ultrasonography and study of placental circulation. Up to 8 weeks of gestation, expectant mothers can have a three-dimensional echography of blood flow in the placenta. This is the most efficient way predict the development of complications at the beginning of pregnancy.

In the second and third trimester, specialists constantly monitor the condition of the fetus, using methods such as dopplerometry, fetometry and cardiotocography. To prevent the development of complications of thrombophilia during pregnancy, the expectant mother must undergo antithrombotic therapy, which is harmless to her and the fetus. The effectiveness of treatment is judged by the condition of the woman. Preventive measures can be considered successful if the patient does not have the risk of the following conditions:

• severe form of preeclampsia;
• thrombosis;
• spontaneous abortion;
• fetoplacental insufficiency;
• placental abruption.

On the ground complex therapy all indicators of pathology markers return to normal and in the future remain at the level characteristic of normal physiological pregnancy.

Treatment of thrombophilia during pregnancy

In the event of the development of complications of thrombophilia in a woman in position, the following methods of non-drug treatment are practiced:

1. Regular wearing of compression underwear or elastic bandages.
2. Refusal to stay in one position for a long time (standing or sitting).
3. Avoid lifting heavy objects.
4. Performing a special gymnastic set of exercises prescribed by a doctor.
5. Massage.
6. Swimming lessons.
7. Use of phytotherapy recipes.
8. Mastering the rules of rational nutrition.
9. Attending sessions of electromagnetic therapy.

In the program of drug treatment, the following methods of combating thrombophilia in a pregnant woman should be noted:

1. Taking drugs, with the assistance of which the walls of blood vessels strengthen and become more elastic, blood parameters and its microcirculation improve (for example, medicines based on calcium nadroparin).
2. Taking anticoagulants.
3. Receiving Magnitol and Dexamethasone to prevent cerebral edema.

Complications of genetic thrombophilia during pregnancy

When treating pregnant women with thrombophilia, doctors must take into account the presence of side effects in drugs on the basis of which the therapeutic program is built. More often unwanted action of such drugs is manifested in the increased formation of blood clots. For example, estrogen-based contraceptives and some cytostatics differ in such properties. You can also add heparin and thrombolytics to this list.

On average, after 2 to 3 days from the start of heparin treatment, thrombocytopenia, which is called early, develops as a side effect. The late form of thrombocytopenia occurs after 7-10 days and is accompanied by the formation of blood clots, as well as high bleeding at the same time. To avoid such an opposite effect, treatment with thrombolytics and heparin is combined with drugs that smooth out their side effects (for example, acetylsalicylic acid). Therapy is carried out on the basis of regular monitoring of the coagulogram and aggregation of the patient. Compliance with these precautions eliminates the development of complications during pregnancy.

Hereditary thrombophilia and pregnancy are not mutually exclusive concepts, so it is not at all worth associating circulatory pathology with infertility. If you do not deviate a single step from the treatment program drawn up by a specialist, the chances of enduring and giving birth to a wonderful baby are very high. Most likely, a woman suffering from thrombophilia will not be able to pass the prescribed 40 weeks of pregnancy. However, a decent level of today's medicine does not allow to call premature babies sick: modern technologies and equipment help such crumbs quickly catch up in all respects with children born on time. As you can see, the prognosis is very favorable, so all that is required of a future mother in this position is to clearly follow the recommendations of the attending physician and believe in the best.

Miscarriage in thrombophilia. Video

Diseases, since her immunity is significantly reduced. Therefore, doctors always strongly recommend expectant mothers if they have chronic diseases in the body to plan pregnancy. This means careful medical examination and identifying possible problems in order to cure them, prepare the body for bearing a child. Indeed, during pregnancy it will be difficult to treat diseases due to negative impact drugs to the fetus. So, what threatens the expectant mother with thrombophilia? What is this disease and how to treat it for pregnant women?

Briefly about thrombophilia

Thrombophilia refers to disorders in the body that cause it to form blood clots (blockages). The disease can be triggered by genetic failures or failures of a physiological nature. The disease manifests itself in different ways. Very often, it does not make itself known at all, and in the event of injuries, surgery, pregnancy, dangerous health problems can arise due to this violation.

There are several types of thrombophilia. It can be acquired and hereditary (congenital). Acquired arises as a result of injuries and operations, and hereditary is transmitted to a person by inheritance or appears as a result of various mutations. In the latter case, doctors talk about disorders at the genetic level.

In addition to the above division of thrombophilia, depending on the causes of occurrence, there is another classification of the disease:

1. Hematogenous thrombophilia. This type of her is the most dangerous, and especially for pregnant women. It can lead to disability or death.
2. Vascular thrombophilia. This type includes atherosclerosis and vasculitis.
3. Hemodynamic thrombophilia is associated with disorders in the circulatory system.

What is the risk of thrombophilia during pregnancy?

It often happens that genetic thrombophilia manifests itself for the first time during pregnancy. This is due to the appearance of the third circle of blood circulation - placental. It gives an additional load on the circulatory system. And the placental circle has features that contribute to the formation of blood clots. The placenta is generally devoid of capillaries, and the mother's blood immediately enters the placenta, where it flows between the chorionic villi and then enters the umbilical cord.

A feature of the body of a pregnant woman is an increase in blood clotting. This is due to the need to reduce blood loss during childbirth or other complications (placental abruption, miscarriage). But increased clotting increases the risk of blood clots. And in case congenital thrombophilia in a future mother, this risk is already quite high.

In most cases, thrombophilia is not dangerous for women, but when pregnancy occurs, everything changes. The risk of thrombosis in such women increases by 5-6 times! AND main danger is possible, which, with thrombophilia, can also occur on short term pregnancy, and in the third trimester. If, with thrombophilia, a woman managed to bear a baby, then childbirth usually occurs ahead of schedule. This may be between 35 and 37 weeks. Such an outcome is considered to be favorable.

In addition, blood clots in the vessels of the placenta can provoke placental insufficiency. And this, in turn, can lead to a delay in the development of the fetus and its oxygen starvation ().

In this case, nutrients cease to enter the body of the unborn baby, resulting in placental abruption and fetal malformations, pregnancy fading and miscarriages, premature birth.

Doctors state that complications appear after 10 weeks of pregnancy. Until this period, there is no data on the effect of thrombophilia on childbearing. It is believed that this disease does not affect pregnancy up to 10 weeks.

The second trimester of a woman's pregnancy with thrombophilia is usually uneventful. And the increase in risk occurs after 30 weeks. During this period, phyto-placental insufficiency and severe forms of preeclampsia often develop.

Diagnostics of thrombophlebitis

Unfortunately, this diagnosis is very difficult. After all, the symptoms of the disease are similar to the symptoms of varicose veins. This is heaviness in the legs and fatigue, pain in the lower extremities. In addition, diagnostic methods are expensive. It makes no sense to conduct such a diagnosis for all pregnant women, since thrombophilia occurs only in 0.1-0.5% of people.

For this reason, women often find out about their diagnosis after an unsuccessful pregnancy or several such pregnancies, under the supervision of a qualified and experienced specialist. That is why the choice of the attending gynecologist should be given special attention.

What can make a doctor alert and offer his patient to be tested for thrombophilia? It could be several factors:

1. Miscarriage of pregnancy. The term means the experience in the past of two or more pregnancies that did not end in childbirth. This includes the fading of the development of the child, miscarriages, premature birth, death of the baby.
2. The presence of complications in previous pregnancies: fetoplacental insufficiency and placental abruption, severe forms.
3. Thrombus formation with hormonal contraception.
4. The presence of thrombotic complications in the woman's relatives.
5. The presence of such complications in her own.
6. Several IVF attempts that ended in failure.

If the doctor has identified one of these factors, then this is the basis for sending the woman for a consultation with a specialist (gemologist or geneticist), for an additional examination for the diagnosis of thrombophilia. Such a survey is multi-stage, includes a number of tests and screenings.

Treatment of thrombophlebitis in a future mother

If, after examinations, such a diagnosis is made to a woman, then the doctor’s treatment is prescribed immediately, without delay. The course of therapy is prescribed jointly by a gemologist, geneticist and gynecologist. It usually consists of drug therapy, diet and regimen. Doctors' prescriptions must be followed strictly.

Medical therapy includes anticoagulants. These are drugs that reduce blood clotting. All of them are assigned strictly in individually, and there is no universal cure that would be equally suitable for all women.

The diet of a pregnant woman with thrombophlebitis includes products that reduce blood clotting. Such products include dried fruits and seafood, berries and ginger.

As for the regimen and other appointments, doctors recommend practicing slow systematic walking and swimming, as well as physiotherapy exercises. You need to wear compression underwear and engage in self-massage. It is highly discouraged for pregnant women with thrombophilia to stand for a long time. And if the work of such a woman is associated with a long standing posture, then it is better to think about how to avoid this. Perhaps you need to talk with management about changing working conditions, transferring to another position. And another taboo for such a woman is lifting and carrying weights.

All therapeutic and preventive measures help improve blood flow and prevent the formation of blood clots.

We must not forget that pregnancy in women with thrombophilia must necessarily proceed under the careful and systematic supervision of doctors. Such a future mother will need to regularly visit not only her gynecologist, but also a gemologist.

So, thrombophilia is not a sentence and a synonym for infertility. With strict adherence to all the recommendations of doctors, the chances of enduring and giving birth to a healthy child are very high. Of course, you need to take into account the fact that it is unlikely that you will be able to bring the baby to 40 weeks. But childbirth at term 35-37 are considered good result. A premature baby at the level of today's medicine does not mean a sick baby at all. Modern medical technologies and equipment make it possible to nurse children who were born at earlier terms.

Therefore, the expectant mother needs to be aware of the risks every day, follow the appointments of her doctor and be an optimist.

In the presence of thrombophilia, it is very important for a woman to plan a pregnancy. Treatment of thrombophilia with such planning differs little from treatment after conception. However, the advantage of this approach is prevention. After all, it is always much easier to prevent the development of problems than to solve them after the appearance.

Especially for Elena TOLOCHIK

DESCRIPTION

With hereditary thrombophilia a person has a defective gene that causes a violation in the blood coagulation system with a tendency to form blood clots in the vessels. This defect in men appears more often after forty, in women - during pregnancy.

Thrombophilia- These are disorders in the hemostasis system, which are characterized by an increased tendency to develop thrombosis blood vessels different caliber and localization.

Congenital hemostasis defects in the population are observed in 0.1-0.5% according to the literature, and among patients with thromboembolism they are 1-8%.

CAUSES

Pregnancy is a condition that increases the risk of venous thrombosis by 5-6 times, which is due to the state of physiological hypercoagulability. With a complicated course of pregnancy, childbirth and the postpartum period, the risk of thromboembolic complications increases.

The criteria for selecting pregnant women for examination for genetically determined thrombophilia are:

• family history - thromboembolism under the age of 40 in relatives;
• unclear episodes of venous and / or arterial thrombosis under the age of 40 years;
• recurrent thrombosis in the patient and close relatives;
• thromboembolic complications during pregnancy, after childbirth, when using hormonal contraception;
• miscarriage, stillbirth, intrauterine growth retardation, placental abruption;
• early onset of preeclampsia, HTLLP syndrome.

Genetically determined forms of thrombophilia:

• antithrombin deficiency 111;
• protein C deficiency;
• protein S deficiency;
• factor V mutation (Leiden mutation);
• mutation of the prothrombin gene;
• hyperhomocysteinemia.

Antithrombin deficiency 111. Antithrombin 111 is a natural anticoagulant synthesized in the liver and endothelial cells. Antithrombin 111 deficiency is inherited in an autosomal dominant manner. Most carriers of this pathology are heterozygotes, homozygotes die very early from thromboembolic complications. The frequency of occurrence in the population is 0.3%, among patients with thromboembolism 3-8%.

Protein C deficiency. Protein C is a natural anticoagulant, vitamin K is a dependent glycoprotein, synthesized in the liver in an inactive form. During pregnancy, its level rises several times, even more in postpartum period. Protein C deficiency is inherited in an autosomal dominant fashion. Homozygous carriers die in utero or after birth. In newborns, protein C deficiency is associated with neonatal purpura fulminantis. Foci of necrosis and ulcers are formed on the skin, often thrombosis in the vessels of the brain.

Protein S deficiency. Protein S is synthesized in the liver, is vitamin K-dependent, its deficiency is inherited in an autosomal dominant manner. Carriers of a gene mutation are most often heterozygotes.

Factor V Leiden mutation is the most common cause of thrombophilia. The risk of thrombosis is extremely high, 8 times higher than without the mutation. According to studies, the risk of abortion in this pathology is 2 times higher.

Mutation of the prothrombin gene occurs in 10-15% of hereditary thrombophilias, when combined with a mutation. The factor is characterized by very early thrombosis at the age of 20-25 years, the risk of thrombosis during pregnancy increases hundreds of times.

Hyperhomocysteinemia. Causes of hyperhomocysteinemia can be hereditary or acquired. Acquired hyperhomocysteinemia: develops with a deficiency of vitamins B6, B12, folic acid, with hypothyroidism, diabetes, kidney disease. Hyperhomocysteinemia is one of the causes of defects in the development of the central nervous system embryo.

SYMPTOMS

Physiological pregnancy in all women is accompanied by an increase in blood clotting - this is an element of the "pregnancy rate" - a set of physiological changes in a woman's body aimed at meeting the ever-increasing needs of a developing fetus.

Increased blood clotting during pregnancy is aimed at preventing pathological blood loss during childbirth. But if a pregnant woman has a defective hemostasis gene - hereditary thrombophilia, then clotting increases significantly and can lead to the formation of blood clots in the vessels of the placenta, which entails the development of such complications as the threat of abortion, placental insufficiency with delayed fetal development and its oxygen starvation ( hypoxia); in severe cases, with severe thrombosis, pregnancy can even end in an unfavorable outcome - fetal death on different terms pregnancy.

Common complaints such as pain in the legs, heaviness and distension in the calves, night cramps in the legs and more.

In a pregnant woman, hereditary thrombophilia can lead to the development of preeclampsia with an increase blood pressure, cause prenatal bleeding associated with premature detachment of a normally located placenta.

TREATMENT

Treatment includes the use of anticoagulants that reduce blood clotting, the leading of which are low molecular weight heparins. Along with anticoagulants, patients receive drugs that affect platelet function, as well as improve liver function, where all coagulation and anticoagulation factors are produced. In some forms of hereditary thrombophilia, folic acid preparations are prescribed, which also helps prevent increased thrombosis.

All patients with an increased risk of thrombosis are prescribed an antithrombotic diet according to (J. Casper, 1973), which excludes fatty meat, lard, legumes, hard cheeses, full fat milk, leafy vegetables (spinach, celery, parsley). Desirable products that help reduce blood clotting: seafood, root vegetables, berries (cranberries, lingonberries, grapes, viburnum, chokeberry); dried fruits (figs, dates, prunes, dried apricots, raisins), sea ​​kale, ginger.

And also with hereditary thrombophilia during pregnancy, it is necessary:

• Normalization of labor (elimination of prolonged standing, heavy lifting),
• Wearing elastic bandages or medical compression stockings,
• Raise legs lying on the bed by 10 - 15 cm,
• Physiotherapy,
• self-massage,
• Swimming,
• Rational nutrition, excluding the intake of spicy and fatty foods,
• Phytotherapy,
• electromagnetic therapy.

All this helps to improve blood flow, which, in turn, prevents the formation of blood clots. But it is not recommended to stand for a long time in such cases. So, if a woman’s job involves standing in one place for a long time, it’s better to find another job or talk to her superiors about changes in working conditions. In addition, it is highly recommended not to lift and carry heavy objects.

And, of course, we must not forget that pregnancy in women with thrombophilia should proceed under the constant and most careful supervision of doctors. A woman will have to regularly visit a gynecologist, as well as a hematologist.

Thus, it turns out that thrombophilia is not a sentence, not a synonym for infertility. If you follow all the recommendations of doctors, then the chances of enduring and giving birth to a healthy child are quite large. There is really one more nuance: it is almost never possible to bring a child to the prescribed 40 weeks with thrombophilia. Usually, childbirth takes place at a period of 35-37 weeks. This is considered a good result.

Please note that premature baby- does not mean a sick child. Modern medicine allows you to nurse children born at much earlier dates. Therefore, it is simply important for a woman to remember the risk and believe in the best.

Planning pregnancy with thrombophilia

Very an important factor successful birth the child is planning pregnancy with thrombophilia. Actually, the treatment of thrombophilia when planning pregnancy is not much different from the treatment after conception. However, the advantage of this approach is in prevention, and preventing the development of problems is always easier than solving them after they appear.

(DOSAGE TABLE DOWNLOADED FROM THE INTERNET)

The course of medical treatment of thrombophilia includes taking medicines, strengthening the walls of blood vessels, improving blood microcirculation, its rheological properties (Nadroparin, Aescin, Mannol, Troxerutin, Dexamethasone).

Hospitalization of a pregnant woman is necessary for varicose veins, cerebral vein thrombosis, venous complication. IN similar cases it is better for a woman with any gestational age to be under the supervision of doctors in an obstetric and gynecological hospital.

The main preventive measures are an active lifestyle that improves venous outflow, taking phlebotonics, antiplatelet agents - inhibitors of cyclooxygenase in platelets that prevent vascular thrombosis.

Compression and local therapy is also carried out after childbirth, for 4 months. Regular consultations with a phlebologist are also necessary. One month after labor activity an ultrasound duplex examination of the veins is carried out, physiotherapy exercises are recommended.

An indicator of the effectiveness of the treatment of thrombophilia is considered to be an improvement in blood circulation, normalization of the rheological properties of blood.

but I didn’t find physical therapy exercises for thrombosis - I dug the whole Internet))))))))) if anyone has info, please send it off)

Thrombophilia is the tendency to form blood clots. This is due to genetics or taking serious hormonal drugs. It is pregnancy that is an indicator of whether a woman suffers from thrombophilia or not. During the period of bearing a child, the body, by its very nature, begins to increase blood clotting so that during childbirth the mother does not lose it in large quantities. This is provided by nature so that the fetus does not develop any pathologies and other complications, for example, the risk of miscarriage or placental abruption.

With thrombophilia, the blood begins to form clots in the vessels, i.e. blood clots, and this leads to miscarriages in the early stages and to premature birth. There are also such dangerous moments as embryonic developmental delay, intrauterine fetal death, as well as other unpleasant moments. Thrombophilia can lead to infertility, since when it is present in a woman's body, there is a high probability that the embryo simply cannot implant and attach to the mother's place. With thrombophilia, even IVF is often an ineffective method of conception.

To diagnose thrombophilia, a woman needs to donate blood for analysis. Diagnostics is carried out in 2 stages:

• clotting analysis;
• special analysis for the presence of thrombophilia during pregnancy.

Laboratories conduct certain screening tests that can detect a number of various forms thrombophilia.

What is the danger of the disease for mother and child

Thrombophilia does not pose any danger to a woman until pregnancy occurs, when there is a risk that she will not be able to give birth to a healthy child. During pregnancy, such a disease begins to act with increased activity, which means that the likelihood of miscarriages is high. There is a risk that the baby will be born prematurely. Well, if this happens in the interval of 35-37 weeks.

As medical practice shows, thrombophilia begins to manifest itself already at the 10th week of pregnancy, until the same period the disease does not make itself felt. The 2nd trimester of pregnancy also proceeds without any complications, when a woman can safely carry a baby under her heart and not experience health problems.

Who is at risk

This disease can affect the body not only during pregnancy, but also during surgical interventions, when taking hormonal drugs. Therefore, it is necessary to conduct an appropriate examination of the following categories of women:

• the patient has had a previous unsuccessful pregnancy;
• the patient several times could not bear the child, and the fetus died at different stages of pregnancy;
• during previous pregnancy complications were observed, for example, the death of the fetus inside the uterus or a delay in its development;
• with infertility, it is not possible to carry out fertilization even by IVF;
• the woman has elevated level antiphospholipid antibodies or homocysteine;
• relatives of the patient who are over 50 years old have suffered or are suffering from thrombosis, stroke, heart attack or pulmonary embolism;
• the patient will have to go through gynecological operations;
• a woman is preparing for hormone therapy.

If at least one of the above factors was observed in a woman earlier, then when planning a pregnancy, she in a strict order needs to be examined to determine the mutation of such genes as prothrombin, antithrombin, protein S and C, fibrinogen. These genes cause all sorts of complications during pregnancy planning and childbearing. The doctor is obliged to examine the woman and for the presence of a pathology such as antiphospholipid syndrome, which can lead to thrombosis and inability to bear a fetus.

Most bad period begins after 30 weeks of pregnancy, when the risk of placental insufficiency increases sharply, and severe preeclampsia may develop.

Prevention

It must be remembered that in the presence of certain signs of thrombophilia, prevention must begin even with the planning of the conception itself. It is early intervention in such processes that can help the fetus implant and gain a foothold in the uterus. If you start treating thrombophilia already during pregnancy, then the effectiveness of this will be much lower.

Before conceiving a child, the patient must go through a series of preventive measures:

1. Carry out healing of foci of possible infections, for example, in the oral cavity and genitals, since all this can lead to thrombosis.
2. If there was surgical intervention The patient is prescribed anticoagulants.
3. Anticoagulants are prescribed during the period of pregnancy itself, as well as for 6 weeks after childbirth.

During such therapy, a doctor may prescribe various drugs:

• Folic acid;
• B vitamins;
• Heparin low molecular weight;
• omega-3 acids;
• natural hormone progesterone;
• antiplatelet agents.

How to help a woman bear and give birth to a child

A future mother who has been diagnosed with thrombophilia needs special medical supervision. To do this, ultrasound is performed, the blood flow in the placenta is carefully studied. More detailed diagnostic methods must be broken down into trimesters:

1. First trimester – examination for the formation of new blood vessels in the placenta, as this process can lead to chronic insufficiency. At week 8, the expectant mother should undergo an examination of the placental blood flow.
2. The second and third trimesters - during this period, special monitoring of the development of the fetus is necessary, for this, fetometry, dipplerometry and cardiotocography of the baby are carried out.

To facilitate the course of pregnancy, antithrombotic therapy may be prescribed by a doctor. It is absolutely harmless for both the expectant mother and the baby. Its successful outcome can be called the absence of severe forms of thrombosis and gestosis, the threat of miscarriage or fetal death, placental abruption is excluded. Antithrombotic therapy maintains acceptable levels of thrombophilia markers. In the future, these markers retain their positions, which indicates a successful pregnancy.

The detection of thrombophilia is not at all a sign that a woman will not be able to give birth. If you go through all the examinations in time and plan your pregnancy, there is every chance that the expectant mother will have healthy children.

Hereditary hemorrhagic diathesis is a group of congenital diseases manifested by a quantitative or qualitative pathology of the vascular-platelet or coagulation links of hemostasis, which results in increased bleeding.

The term "congenital thrombophilia" refers to a predisposition to thrombosis due to genetic defects in both the anticoagulant (anticoagulant and fibrinolytic) and blood coagulation systems.

SYNONYMS

Hereditary (congenital) coagulopathy (hemorrhagic diathesis), hereditary (congenital) thrombophilia.

ICD-10 CODE
O99.1 Other diseases of the blood and hematopoietic organs and certain disorders involving the immune mechanism complicating pregnancy, childbirth and the puerperium.

EPIDEMIOLOGY

Hemorrhagic diathesis is quite common in the population. The frequency of von Willebrand's disease in the population is 1%, hemophilia A - 0.01%, hemophilia B - 0.001%. Quite often, congenital thrombocytopathy and thrombocytopenia are detected, the proportion of which among all hereditary hemorrhagic diatheses reaches 65%. The frequency of coagulopathy due to hereditary deficiency of fibrinogen, prothrombin, factors V, VII, X, XI and XIII in the population is 1-2 cases per 1 million population.

The most common cause of a high risk of thrombosis due to genetic disorders is factor V resistance to activated protein C. Factor V Leiden mutation is noted in 15% of the population of southern Sweden, in 1–10% of residents in various regions of France. At the same time, this disease does not exist in Japan, among the local population of Asia, Africa and America.

A mutation in the prothrombin gene is found in approximately 2–5% of healthy population. The prevalence of this pathology in Southern Europe is 3%, in Northern Europe - 1.7%.

Dysfibrinogenemia - genetic disorders of the structure of the fibrinogen molecule, inherited mainly in an autosomal dominant manner. Pathological variants fibrinogen were named after the cities in which they were found (Europe, USA).

An important place among the causes of genetic thrombophilia is occupied by genetic defects in the factors of the anticoagulant and fibrinolytic systems. The frequency of heterozygous carriage of a defect in proteins C and S in the population varies from 28 to 63 cases per 1 million. Hereditary antithrombin deficiency, which is inherited in an autosomal dominant manner, is noted with a frequency of 200–500 cases per 1 million population. Hereditary defects in fibrinolysis are found in 2–3% of young patients with unexplained deep vein thrombosis.

CLASSIFICATION OF DEFECTS OF THE HEMOSTASIS SYSTEM

Hemorrhagic diathesis
Von Willebrand disease.
Hereditary thrombocytopathies (Glyantsmann-Negeli thrombasthenia, Bernard-Soulier syndrome, accumulation pool diseases, gray platelet syndrome, and others).
hereditary thrombocytopenia.
Hemophilia A (factor VIII deficiency).
Hemophilia B (factor IX deficiency) is Christmas disease.
Hemophilia C (factor XI deficiency) - Rosenthal syndrome.
Parahemophilia (factor V deficiency).
Factor X deficiency (Stuart-Prower syndrome).
Factor VII deficiency (Alexander disease).
Factor XIII deficiency (Lucky-Laurent disease).
Afibrinogenemia.
Dysfibrinogenemia.
Hypoprothrombinemia.
Deficiency of high molecular weight kininogen.
Prekallikrein deficiency (Fletcher factor).
Deficiency of α2-antiplasmin.

congenital thrombophilia
Factor V mutation (Leiden mutation).
Mutation - 20210A in the prothrombin gene.
Polymorphism 455-/A in the fibrinogen gene.
Hereditary protein C deficiency.
Hereditary protein S deficiency.
hereditary deficiency antithrombin III.
C677T polymorphism in the N(5,10)-methylenetetrahydrofolate reductase gene.
Mutation of the cystathion(on) β-synthetase gene.
PlA1/A2 polymorphism in the pIIIa gene.
Hereditary deficiency of tPA.
Polymorphism 4-/5- in the PAI-1 gene.

ETIOLOGY AND PATHOGENESIS (CAUSES AND COURSE)

Hereditary hemorrhagic diathesis

The etiological factor is a hereditary quantitative deficiency or qualitative deficiency of the adhesive glycoprotein von Willebrand factor.

Hemophilia A and B are hereditary diseases linked to sex and manifested by a violation of the synthesis of factors VIII and IX, respectively. Only men get sick. Women who carry the hemophilia A and B genes usually have increased risk bleeding during childbirth and the postpartum period. Hemophilia C (hereditary factor XI deficiency) is a rare disease that is not sex-linked, the proportion of which among all hereditary coagulopathies does not exceed 1%. The debut of hemophilia C, as a rule, occurs with massive post-traumatic or postoperative blood loss. Such severe hemorrhagic syndromes as afibrinogenemia and hereditary prothrombin deficiency are usually incompatible with life.

Hereditary thrombocytopathies are caused by congenital insufficiency of the receptor apparatus, defects in the accumulation of components of various granules, intralysosomal transport and the formation of enzymes that regulate platelet function. As a result, platelet adhesion to both the vascular wall and the forming fibrin clot is disrupted. This disease is called Glyantsmann-Negeli thrombasthenia.

The inability of giant degenerative platelets due to the lack of a membrane receptor for glycoprotein Ib to bind von Willebrand factor and adhere to the damaged vascular wall is noted in Bernard-Soulier syndrome.

congenital thrombophilia

Mutation of the factor V gene (Leiden mutation), leading to resistance to activated protein C, is considered the most common cause of a high risk of thrombosis due to genetic abnormalities. This mutation consists of an amino acid substitution in the factor V molecule at the site where the molecule is cleaved by activated protein C. With episodes of venous thromboembolism in pregnant women, this pathology is detected in 43.7% of cases (in the control group - 7.7%). With a combination of factor V gene mutation and hyperhomocysteinemia, the risk of thrombosis increases by 10–20 times. Delayed degradation of factor Va leads to stabilization of the prothrombinase complex (factor Xa - factor Va - phospholipids - calcium ions) and increases the rate of thrombin formation. Resistance to activated protein C is found in 78% of women with venous thrombosis during pregnancy, while the Leiden mutation is noted in only 46%.

The reason for the development of resistance in other cases, apparently, are other mutations (Cambridge and Hong Kong).

The prothrombin 20210A mutation is the second most common cause of an increased risk of thrombus formation due to genetic disorders. With it, in almost 90% of cases, an increased level of prothrombin is detected (usually above 115%). The risk of developing thromboembolism in the presence of this mutation increases 3 times, and in women with thromboembolic complications it is detected in 16.9% of cases (in the control group - in 1.3%). The frequency of the combination of the Leiden mutation of the factor V gene and the mutation of the prothrombin gene in women with thromboembolic complications is 9.3% (not noted in the control group). The presence of two or more mutations at the same time leads to an almost 100-fold increase in the risk of thrombosis.

Sticky platelet syndrome is the third most common cause of increased risk of thrombosis due to genetic disorders. The disease is associated with hypersensitivity platelet receptors to inducers of aggregation. In the development of complications, stress is important, accompanied by the release of adrenaline and activation of platelets. Polymorphism of the A1/A2 gene of the platelet receptor for glycoprotein IIb/IIIa, according to a meta-analysis, leads to a slight (by 5–10%) increase in the risk of coronary artery thrombosis.

Most cases of significant hyperhomocysteinemia (90-95%) are due to a homozygous deficiency of cystathion(one) β-synthetase, leading to impaired transformation of homocysteine ​​to cystathionine. In 5-10% of cases, significant hyperhomocysteinemia is due to a congenital disorder in the conversion of homocysteine ​​to methionine as a result of a homozygous deficiency of N (5,10)-methylenetetrahydrofolate reductase, found with a frequency of 0-1.4%. A significant relationship was found between hyperhomocysteinemia and vascular thrombosis of varying severity (the relative risk of venous thrombosis is 2.5).

Hereditary deficiency of protein C is diagnosed in 10% of patients with PE and deep vein thrombosis. Over 160 different mutations of protein C have been described so far. The incidence of thrombosis during pregnancy with protein C deficiency is 7%, and in the postpartum period - 19%. Homozygous carriers of hereditary protein C deficiency have neonatal fulminant purpura. This state refractory to therapy with heparin or antiplatelet agents and more often ends fatally. The content of protein C in heterozygous carriers is 30-60% of normal. As a result of a genetic defect in protein C, the main function of activated protein C (cleavage (cleavage) of factor Va and factor VIIIa, which results in prothrombinase inactivation), is disrupted, which leads to increased thrombosis.

Hereditary protein S deficiency was described in 1984. In heterozygous carriers, protein S deficiency manifests itself with deep vein thrombosis, arterial thrombosis, PE, but the risk of developing these complications is much lower than with antithrombin or protein C deficiency. Neonatal fulminant purpura develops in homozygous carriers. The risk of thrombosis during pregnancy in the presence of protein S deficiency reaches 6%, with concomitant protein C deficiency - 3-10%, and in the postpartum period - 7-22% and 7-29%, respectively.

Hereditary antithrombin deficiency was described in 1965. In 3-8% of patients with PE, deep vein thrombosis, antithrombin deficiency is found. The incidence of thrombosis during pregnancy and in the postpartum period with antithrombin deficiency is 18 and 33%, respectively. The risk of thrombosis increases with a decrease in the biological activity of anti-thrombin to 50-70% as a result of a violation of the main function of antithrombin - inactivation of thrombin and most other blood coagulation factors.

Hereditary defects of fibrinolysis. Plasminogen deficiency is found in 2-3% of young patients with deep vein thrombosis. Venous thrombosis and PE develop when plasminogen activity is below 40% of normal.

The most common genetically determined cause of dysfunction of the fibrinolytic system is an increase in the content of PAI-1 as a result of homozygous carriage of the 4- allele, which is accompanied by a 1.3-fold increase in the risk of coronary disorders and contributes to a complicated course of pregnancy and the postpartum period.

The pathogenesis of complications of gestation

Adaptation of the hemostasis system, which develops in pregnant women and reaches its maximum severity before childbirth, helps to reduce the frequency of manifestations of hereditary defects in the hemostasis system associated with a decrease in blood clotting. At the same time, such complications of pregnancy and childbirth as gestosis, HELLP-syndrome, PONRP, OB embolism occur with the development of DIC, and therefore fatal hypocoagulation is possible in women with congenital coagulopathy. The risk of a fatal bleeding disorder is extremely high in women with massive obstetric blood loss that has developed against the background of placenta previa, cervical and isthmus pregnancy, and uterine rupture.

Since the process of implantation, invasion of the trophoblast and further formation of the placenta is the result of the interaction of various blood coagulation factors, blood cells, endotheliocytes and trophoblast, the presence of genetic defects in the hemostasis system, leading to hyperaggregation and hypercoagulation, causes a violation of implantation and placentation and contributes to the deposition of fibrin and immune complexes on the membrane of syncytiotrophoblast. The result of a violation of trophoblast invasion into the spiral arteries of the placental bed is miscarriage, chronic placental insufficiency, IGR, preeclampsia, PONRP.

CLINICAL PICTURE (SYMPTOMS) OF DEFECTS OF THE HEMOSTASIS SYSTEM DURING PREGNANCY

Von Willebrand's disease is characterized by petechial rash, bruising, nasal, gingival, uterine, gastrointestinal bleeding, hematuria, hemorrhages into the cavity of large joints. The most difficult is the first trimester of pregnancy, when the content of the von Willebrand factor is not yet increased, and the late postpartum period, during which the formation of hematomas and poor healing of wound surfaces are characteristic. In women with thrombocytopathies, decompensation of the hemostasis system usually occurs during childbirth. There are coagulopathic uterine bleeding, hemorrhages in the brain, retina. Carriers of the hemophilia gene usually have clinical manifestations are absent, but postpartum coagulopathic bleeding can develop with obstetric complications and extragenital pathology.

The clinical manifestations of hereditary thrombophilia are thromboembolic complications in young age, venous thrombosis in persons without visible risk factors (trauma, surgery, prolonged immobilization), arterial thrombosis, atypical localization of thrombosis (mesenteric, carotid, in the brain), thrombosis of small skin veins, migrating and recurrent thrombosis, strokes and heart attacks at a young age , thrombosis on the background of taking hormonal contraceptives and during pregnancy. Physiological changes in the hemostasis system, predisposing to hypercoagulability, contribute to the manifestation of congenital thrombophilia during pregnancy.

COMPLICATIONS OF GESTATION

Hemorrhagic diathesis during pregnancy is manifested uterine bleeding, coagulopathic bleeding in the afterbirth and early postpartum period, hematomas of the vagina and postoperative suture after operative delivery, late postpartum hemorrhage. As a rule, 35% of women with hemorrhagic diathesis during pregnancy experience spontaneous miscarriages, premature births. With the same frequency, gestosis develops. PONRP with massive bleeding is more often observed.

Pregnant women with congenital thrombophilia are more likely to habitual miscarriage pregnancy, premature birth, chronic placental insufficiency and fetal malnutrition, preeclampsia, HELLP syndrome, PONRP, postpartum and postoperative thromboembolic and septic complications.

DIAGNOSTICS

ANAMNESIS

When collecting an anamnesis, attention is paid to the family nature of the disease, the early age of onset of symptoms, the relationship between the severity of the clinical picture and injuries, operations, menarche, admission oral contraceptives and pregnancy.

PHYSICAL EXAMINATION

There are no features.

LABORATORY RESEARCH

In pregnant women with hemorrhagic diathesis, the following changes are noted:
Reducing the number of platelets below 150×109/l, detection of their abnormal forms.
Ivy bleeding time increase.
Violation of induced platelet aggregation using various inducers: ADP, adrenaline and ristomycin.
Decreased content and activity of the von Willebrand factor.
Increased APTT (with a deficiency of fibrinogen, prothrombin, VIII, IX, X, XI, XII coagulation factors).
Prolongation of prothrombin time, which is typical for deficiency of fibrinogen, prothrombin, V, VII, X coagulation factors.
Decrease in the concentration of fibrinogen in the blood.
Decrease in the content of various blood coagulation factors.

Thrombophilia can be suspected based on the results of conventional coagulation tests. Characteristic features:
Hyperfibrinogenemia.
Shortening of coagulation tests, activated recalcification time, APTT.
Thrombocytopenia, increased induced platelet aggregation (with ADP, adrenaline).
An increase in the content of β-thromboglobulin, factor IV of platelets in the blood.
Decreased levels of antithrombin and protein C in the blood.
A decrease in the concentration of plasminogen, tissue plasminogen activator, an increase in the content of an inhibitor of tissue plasminogen activator type I in the blood.
An increase in the content of markers of endothelial dysfunction (von Willebrand factor, fibronectin, etc.) in the blood.
Microangiopathic hemolytic anemia.

For the diagnosis of thrombophilia, it is also recommended to study its direct markers in the blood: the thrombin-antithrombin complex, F 1+2 prothrombin fragments, fibrin and fibrinogen degradation products, D-dimer, plasmin-α2-antiplasmin complex, intravascular and spontaneous platelet aggregation.

INSTRUMENTAL STUDIES

Instrumental studies are prescribed for the development of complications.
If a hemorrhage in the brain is suspected, an MRI is performed, for intra-articular bleeding - arthroscopy.
In case of deep vein thrombosis of the lower extremities, pelvic vein thrombosis, PE, it is necessary: ​​Doppler ultrasound, X-ray examination of the lungs, angiopulmonography, ECG.

DIFFERENTIAL DIAGNOSIS

Congenital disorders of the hemostasis system must be differentiated from acquired ones. The most common cause of acquired thrombocytopenia is idiopathic thrombocytopenic purpura (Werlhof's disease), caused by autoimmune disorders, which accounts for 90% of all thrombocytopenia (see the chapter "Pregnancy and blood diseases"). The disease is associated with the formation of antiplatelet antibodies, important role in the development of which the spleen plays, and is manifested by the appearance of a petechial rash, easy bruising, nose and gum bleeding, as well as meno- and metrorrhagia. In 2/3 of women with autoimmune thrombocytopenia during pregnancy, the course of the disease worsens, and therefore it is often necessary to resort to artificial termination of pregnancy due to medical indications or to early delivery with simultaneous splenectomy. A differential diagnostic sign of autoimmune thrombocytopenia is also a positive effect of glucocorticoid therapy and aggravation of thrombocytopenia during transfusion of donor platelets, and therefore transfusions of fresh frozen plasma and cryoprecipitate are contraindicated in immune thrombocytopenia.

Differential diagnosis of hemorrhagic diathesis caused by a decrease in the activity of coagulation factors should be carried out with a violation of the synthesis of coagulation factors, for the formation of which vitamin K is needed (prothrombin, VII, IX, X factors), as a result of alimentary beriberi, malabsorption of fat-soluble vitamin K, administration of vitamin antagonists K (anticoagulants), liver pathology, as well as the formation of autoantibodies to coagulation factors after massive and frequent blood transfusions.

The most common cause of acquired thrombophilia is APS - a symptom complex, including the presence of antiphospholipid antibodies, arterial and venous thrombosis, miscarriage, immune thrombocytopenia and / or neurological disorders. The thrombophilic effect of antiphospholipid antibodies is due to impaired functioning of the anticoagulant system: damage in the protein C system, displacement of annexin V from the surface of the cell membrane of the endothelium and syncytiotrophoblast, impaired formation of tissue plasminogen activator, damage to endothelial membranes and induction of tissue factor synthesis, decreased activity of antithrombin, suppression of prostacyclin formation by the endothelium and changes in the functional state of platelets.

Acquired deficiency of protein C and antithrombin can occur with DIC, liver disease due to vitamin K deficiency, with infections, malignant neoplasms, hemolytic-uremic syndrome.

Indications for consulting other specialists

If congenital disorders of the hemostasis system are suspected, a consultation with a hematologist is indicated, and if the diagnosis is confirmed, dispensary observation in a specialized institution is indicated.

Diagnosis example
Childbirth II, urgent. Mild gestosis. Diffuse non-toxic goiter, euthyroidism. Congenital dysfibrinogenemia.
Coagulopathic bleeding in the early postpartum period.
Childbirth I, urgent. Mild gestosis. PONRP. Acute hypoxia fetus. Congenital thrombophilia (according to three factors).

TREATMENT OF DEFECTS OF THE HEMOSTASIS SYSTEM DURING PREGNANCY

GOALS OF TREATMENT

Prevention of pregnancy complications (miscarriage, preeclampsia, PONRP).
Treatment of obstetric and concomitant extragenital pathology.
Elimination of risk factors for the development of thrombosis: prevention of slowing and circulatory disorders, its restoration, the appointment of pathogenetic prevention of thrombosis (prevention of intravascular platelet aggregation and activation of blood coagulation, restoration of antithrombotic activity of the vascular wall).
Achievement of optimal hemostasiological parameters for effective stop of postpartum hemorrhage.
Prevention of postpartum and postoperative complications.

NON-DRUG TREATMENT

Violation of venous blood flow in pregnant women with hereditary thrombophilia corrected with therapeutic compression knitwear. No less important for pregnant women who are to undergo surgery, they consider taking measures to combat physical inactivity (physiotherapy exercises, a set of sports exercises).

MEDICAL TREATMENT

For the treatment of increased bleeding in women with mild forms of von Willebrand disease, desmopressin (a synthetic analogue of vasopressin) is indicated, which increases the concentration of von Willebrand factor and factor VIII in the blood due to their release from endothelial cells.

In pregnant women with congenital thrombophilia, in order to eliminate venous stasis, diosmin and the herbal preparation Antistax, which have a venotonic, angioprotective effect, are prescribed.

In pregnant women with hypercoagulable syndrome against the background of congenital thrombophilia, low molecular weight heparins are considered the drugs of choice. Low molecular weight heparins during pregnancy do not have any negative effect on the fetus or mother. According to multicenter randomized trials, when using low molecular weight heparins in small and intermediate doses (less than 75 and 75–150 anti-Xa units/kg body weight per day, respectively), no clinically significant hemorrhagic manifestations were observed during pregnancy and childbirth. The use of warfarin is possible only in the second trimester of pregnancy in women with artificial heart valves.

IN clinical practice antiplatelet agents are widely used for the treatment of thrombophilia and the prevention of thromboembolic complications. In order to prevent thromboembolic complications, dipyridamole is prescribed. It potentiates the antiaggregant action of prostacyclin, induces the biosynthesis of interferon, does not have an embryotoxic effect, improves placental blood flow. The use of dipyridamole in the I and II trimesters of pregnancy leads to the activation of angiogenesis. The drug is prescribed at a dose of 25 mg 3 times a day for 21 days with congenital thrombophilia, accompanied by increased platelet aggregation, and with APS.

Antiaggregants widely used in obstetric practice include acetylsalicylic acid. The results of a meta-analysis and randomized trials have shown that the use of this drug in the II-III trimesters of pregnancy at low doses (60-150 mg / day) is safe for the mother and fetus.

SURGERY

As a rule, surgical hemostasis is ineffective without adequate replacement therapy with components of the blood coagulation system.

Surgical treatment is indicated for abscess formation of thrombophlebitis of the superficial veins of the extremities, recurrent thrombosis of the hemorrhoidal veins. With ascending deep vein thrombosis of the lower extremities, a titanium cava filter is indicated. With arterial thrombosis of the vessels of the extremities or parenchymal organs, drug thrombolysis or surgical thrombectomy is necessary.

Prevention and prediction of complications of gestation

Pregnant women with hereditary disorders of the hemostasis system in order to prevent miscarriage, the development of placental insufficiency, gestosis and PONRP are prescribed folic acid, antioxidants, and in case of thrombophilia - heparinoids (sulodexide).

Features of the treatment of complications of gestation

Treatment of complications of gestation by trimester

In critical periods for miscarriage, after 16 weeks, drugs are prescribed that reduce the tone of the uterus (β-agonists). The introduction of anticoagulants, antiplatelet agents, non-steroidal anti-inflammatory drugs, analgesics to pregnant women with hemorrhagic diathesis is contraindicated.

In the I and II trimesters of pregnancy, women with thrombophilia, along with the usual therapy for the threat of termination of pregnancy and the prevention of miscarriage, are shown folic acid preparations, anticoagulants and antiplatelet agents.

Pregnant women with preeclampsia and chronic placental insufficiency against the background of congenital thrombophilia are considered a high-risk group for the occurrence of PONRP and HELLP syndrome. Treatment of preeclampsia and chronic placental insufficiency in pregnant women with thrombophilia is carried out according to generally accepted schemes with the obligatory prescription of endotheliomodulatory drugs (magnesium sulfate, nitrates for vasodilation), drugs that affect the blood coagulation system (anticoagulants and antiplatelet agents), as well as antioxidants and hepatoprotectors (essential phospholipids ).

Treatment of complications in childbirth and the postpartum period

Von Willebrand disease. Replacement therapy with drugs containing von Willebrand factor / factor VIII is indicated: antihemophilic plasma, blood coagulation factor VIII (one dose contains 200 IU of factor VIII) and factor VIII concentrate. As a rule, in the first stage of labor (before opening by 6–7 cm), 3–6 doses of cryoprecipitate should be administered. With planned delivery by CS operation, replacement therapy is started 1-2 days before. The initial dose is at least 3-6 doses of cryoprecipitate, then 2-3 doses of cryoprecipitate are administered every 2 days for 5-7 days. Antihemophilic plasma is used in a single dose of 10–15 ml/kg of body weight and in a daily dose of 30–50 ml/kg of body weight, divided so that the first dose is 1.5 times more than the next two. Before operative delivery, prednisolone is also prescribed at a dose of 1 mg/kg of body weight. Anticoagulants, antiaggregants, dextrans, non-steroidal anti-inflammatory drugs and analgesics are contraindicated for pregnant women, women in childbirth and puerperas with von Willebrand's disease. Early discharge is also contraindicated due to the possible delay of complications (after childbirth - at least 12-15 days, after CS - at least 15-20 days).

In case of congenital thrombocytopathies in the II and III stages of labor and in CS, drugs containing normal platelets (thrombus suspension) are transfused. Anticoagulants and antiplatelet agents are contraindicated.

Congenital coagulopathy. Pathogenetic consider replacement therapy with blood coagulation factors, the deficiency of which is noted in the patient.
- Carriers of the defective factor VIII gene (hemophilia A) for prophylactic purposes are administered in the first stage of labor with one dose of cryoprecipitate or 200 IU of factor VIII.
- Carriers of the hemophilia B gene are also indicated for the introduction of a single dose of cryoprecipitate at birth.
- In congenital deficiency of factor XI (hemophilia C), fresh frozen plasma or factor XI concentrate is prescribed during childbirth and in the first days after delivery.
- The risk of obstetric bleeding in parahemophilia (congenital factor V deficiency) is very high in homozygotes. To prevent bleeding during childbirth and during operative delivery, as well as within a week after delivery, cryoprecipitate is administered in 2–3 doses or fresh frozen plasma at a dose of 20–25 ml/kg of body weight.
- In Alexander's disease (congenital deficiency of factor VII), transfusions of 800 ml of fresh frozen plasma in childbirth and the postpartum period or recombinant factor VII are indicated.
- With Stuart-Prower syndrome ( congenital insufficiency factor X), the risk of obstetric bleeding is also extremely high. Assign fresh frozen plasma at a dose of 10-15 ml / kg of body weight per day during childbirth and daily for a week after childbirth.

In childbirth and in the postpartum period, women with thrombophilia are prevented from venous congestion in the veins of the lower extremities by using compression stockings. After operative delivery, a complex of physiotherapy exercises is shown. In puerperas with thrombophilia, prevention of purulent-septic and thromboembolic complications with anticoagulants and antiaggregants is mandatory. The appointment of low molecular weight heparins (nadroparin calcium at a dose of 0.3–0.6 ml/day subcutaneously) for 5–10 days, dipyridamole 25 mg 3 times a day for 14–21 days, acetylsalicylic acid at a dose of 1 mg/day is shown. kg of body weight for a long time, folic acid and B vitamins.

INDICATIONS FOR CONSULTATION OF OTHER SPECIALISTS

With the development of massive obstetric bleeding in a woman with hemorrhagic diathesis, infusion-transfusion therapy should be carried out in conjunction with a specialized hematological team.

The presence of arterial and venous thrombosis is an indication for the joint management of a pregnant woman with a surgeon and an angiologist, and neurological symptoms- with a neurologist and an oculist.

INDICATIONS FOR HOSPITALIZATION

Hospitalization is indicated for up to 12 weeks of pregnancy in the hematology department of a multidisciplinary hospital to resolve the issue of the possibility of prolonging the pregnancy, and later, in the event of pregnancy complications and at critical times due to miscarriage, to the gynecological department of a multidisciplinary hospital and a specialized maternity hospital. Delivery is carried out only in a specialized obstetric institution, which has a hematologist and its own blood transfusion unit, where the pregnant woman should be sent no later than 38 weeks of gestation.

TREATMENT EFFECTIVENESS ASSESSMENT

Evaluation of the effectiveness of treatment is carried out according to the indicators of the hemostasis system.

The content of factor VIII, which provides hemostasis in women with von Willebrand's disease, corresponds to 50% of the norm. The hemostatic effect is achieved at the following levels of blood coagulation factors (from the norm): prothrombin - 40-50%, factor V - 30%, factor VII - 10-20%, factor X - 50%, factor XI - 20% and higher. When the platelet concentration is less than 50×109/l, petechiae occur, and below 10×109/l, spontaneous bleeding of various localization occurs.

The criteria for the effectiveness of the treatment of hypercoagulable syndrome in congenital thrombophilia are the disappearance of direct markers of intravascular blood coagulation (D-dimer), the normalization of the content of the main natural anticoagulants (antithrombin, protein C), indicators of endothelial dysfunction (von Willebrand factor), parameters of platelet aggregation activity.

In addition, an indicator of the effectiveness of treatment is the absence of complications during pregnancy, childbirth and the postpartum period, as well as the satisfactory condition of the fetus and newborn.

CHOICE OF DATE AND METHOD OF DELIVERY

With hereditary defects in the hemostasis system, delivery through the natural birth canal at the time of delivery is preferable. With hemorrhagic diathesis, early delivery, as well as delivery by CS operation, is carried out only according to obstetric indications.

In congenital thrombophilia, indications for operative delivery serve as floating thrombi of the deep veins of the pelvis and lower extremities, pronounced varicose veins of the vagina and perineum, acute thrombosis of hemorrhoidal veins, arterial thrombosis, disorders cerebral circulation and PE during pregnancy.

INFORMATION FOR THE PATIENT

With increased bleeding or thrombosis that occurs for no reason or after any surgical intervention, as well as associated with the use of hormonal contraceptives or pregnancy, a detailed study of the blood coagulation system and examination for genetic disorders of the hemostasis system is necessary.

Repeated IVF failures, recurrent miscarriage, chronic placental insufficiency, IGR, preeclampsia, PONRP are indications for testing for genetic thrombophilia.

When diagnosing hereditary defects in the hemostasis system, a consultation with a hematologist, regular examination of the parameters of the blood coagulation system during pregnancy, observation and delivery in a specialized obstetric institution are indicated.