Features of the analysis for thrombophilia with decoding of indicators and prices. Analysis for genetic thrombophilia: how important are the facts about the disease Risk of developing thrombophilia

The tendency to develop thrombosis (usually venous), which is associated with gene defects, is called hereditary thrombophilia. It is manifested by the pathological formation of blood cells and coagulation factors. Patients experience blockage of blood vessels by blood clots various localizations. During pregnancy, the first signs of the disease are possible with complications in the form of premature birth.

📌 Read in this article

Risk factors for thrombophilia

At hereditary predisposition to increased blood clotting, a lack of and is most often noted. They reduce the formation of blood clots, so when they are deficient, accelerated thrombus formation is observed. In addition, patients may have abnormalities in the structure of fibrinogen and other coagulation factors.

Many of these disorders remain undiagnosed and go undetected. clinical signs until provoking factors arise:

prolonged stay in a static position ( bed rest, immobilization after injury, surgery);
professional activities associated with prolonged sitting or standing, carrying heavy objects;
sedentary lifestyle;
obesity;
pregnancy;
surgical interventions, extensive tissue damage due to trauma, connection venous catheter into the central vein;
loss of fluid due to treatment with diuretics, diarrhea or vomiting;
malignant tumors;
heart and vascular diseases;
hormonal contraception.

An increase in the synthesis of the amino acid homocysteine is also one of the variants of the familial form of thrombophilia. A high concentration of this compound in the blood has a traumatic effect on the vessel wall, which results in the appearance of a blood clot. An increase in homocysteine concentration is considered one of the markers of diseases:

and brain;
venous thrombosis.

During pregnancy increased level this amino acid is a sign oxygen starvation fetus due to insufficient blood supply through the placenta, it is often combined with metabolic disorders folic acid, vitamins B6 and B12, leads to developmental defects in the child.

Gene disorders can occur not only with hereditary thrombophilia, The chromosomal apparatus can also be affected by mutations due to external factors:

ionizing radiation;
chemical poisoning;
contamination of food and water with pesticides;
contact with petroleum products;
medication use;
consumption of food with preservatives and dyes, genetically modified products.

Screening for hereditary thrombophilia

Indications for determining blood coagulation factors and accompanying thrombophilia biochemical parameters may be needed in the following cases:

Blood analysis

In order to determine the increased risk of thrombosis, patients are prescribed a comprehensive blood test, which includes determining:

Markers

To study the genetic predisposition to thrombophilia, an analysis of venous blood and scraping of the epithelium of the oral mucosa is performed. The obtained data reflects the identified mutation and gene diversity (polymorphism). These abnormalities may increase the risk of blood clots under unfavorable conditions. Several genes are examined:

coagulation factors - prothrombin (F2), fifth, seventh, thirteenth (F13A1), fibrinogen (FGB);
plasminogen activator antagonist PAI-1 (serpin);
platelet receptors for collagen ITGA2 or ITGB3 (alpha and beta integrin).

Hereditary thrombophilia and pregnancy

When gene mutations are detected during pregnancy, the risk of blood clots increases. This is dangerous for bearing a child, since women during this period experience a physiological increase in the coagulation system to protect the body from blood loss during childbirth. Therefore, with genetic abnormalities, blockage of the placental vessels often occurs, which leads to adverse consequences:

early miscarriage;
premature birth;
insufficient blood supply to the fetus;
delayed development of organs in a child;
placental abruption;
venous thrombosis and disorders cerebral circulation in the expectant mother;
recurrent miscarriage.

Treatment for hereditary thrombophilia

If a disease is detected, it is first recommended to follow the following rules:

exclude long stay in a stationary position (pause for light warm-up), lifting weights;
, swimming;
, stockings (especially during pregnancy and childbirth);
carry out self-massage with the application of venotonic gels (, Hepatrombin);
build a healthy diet.

For drug therapy thrombophilia uses:

anticoagulants - Heparin, Fraxiparin, ;
antiplatelet agents (Tiklid, acetylsalicylic acid, Dipyridamole, Wessel Due F);
venotonics - Aescin, Phlebodia, Troxevasin, Aescusan, Vasoket.

Diet if you are prone to thrombosis

You should completely exclude foods that increase blood viscosity from your diet. These include:

fatty meats, offal, lard, meat broths, jellied meat;
coffee, black tea, chocolate;
hard cheese, whole milk;
spinach and leaf celery;
all spicy and fatty foods;
semi-finished products, canned food.

To thin the blood, the menu should include:

lingonberry, cranberry or viburnum juice;
compotes with chokeberry, prunes, dried apricots;
seaweed, mussels, shrimp;
ginger;
pomegranate juice;
porridge from buckwheat, barley and oatmeal;
dates.

Blood thinners

Hereditary thrombophilia occurs when the body has defects in genes involved in the formation of coagulation factors or substances with anticoagulant activity. Signs of the disease are recurrent blockages of venous vessels. This pathology poses a particular danger to pregnant women due to the increased risk of premature birth and impaired fetal formation.

Individuals at risk are recommended to undergo an examination, including a lipidogram and coagulogram, as well as tests for markers of genetic thrombophilia. For the treatment and prevention of complications, dosed doses are recommended physical activity, medication and antithrombotic diet.

Useful video

Watch the video about thrombophilia and pregnancy:

Causes and symptoms

The main cause of the disease is the insufficiency of regulatory mechanisms that limit the formation of blood clots.

Blood clots are formed during blood clotting to restore damaged blood vessels as a result of biochemical reactions between special cells (platelets) and proteins (clotting factors), which are responsible for regulating the processes of hemorheology and hemostasis. When these processes are disrupted, blood clots begin to form for no apparent reason and block blood flow to surrounding tissues. This tendency to increased blood clot formation is called hematogenous thrombophilia.

If a patient has thrombophilia, then clinical manifestations will depend on the location of the clots, the degree of circulatory impairment, concomitant pathology, age and gender of the patient. The main symptom is the frequent formation of blood clots, pain at the site of their localization, and increasing swelling. The development of the disease can be triggered by genetic and environmental factors, therefore thrombophilic abnormalities are divided into hereditary and acquired.

Types of disease

Hereditary thrombophilia

A genetic defect causes the formation large quantity blood clots in young people.

The main signs are the occurrence of multiple thromboses in relatively young people without visible reasons. Hereditary thrombophilia is caused by genetic defects that are present from birth. Greatest predisposition to congenital form appears when both parents are carriers of defective genes. The most common anomalies are:

deficiency of antithrombin III and protein C and S, which are responsible for increased clot formation;
factor V Leiden, which prevents free blood flow.

Acquired thrombophilia

Occurs in older age and occurs as a result of autoimmune disorders, hormonal imbalances and diseases that lead to decreased blood flow through veins and arteries. Abnormal clotting may occur after major operations, vascular catheterization, prolonged immobilization, during pregnancy and the use of hormonal oral contraceptives.

When are tests needed?

Screening and testing for genetic thrombophilia should be done under the following circumstances:

If pregnancy proceeds with complications, then the woman needs additional examination.

repeated thrombosis;
single or multiple thrombosis at a relatively young age;
pregnancy planning;
complications encountered while carrying a child;
oncological and systemic diseases;
consequences complex operations, severe injuries, infections.

What tests are performed?

For research it is taken deoxygenated blood, which contains genetic markers of thrombophilia, information on composition, viscosity, coagulability. To do this, the patient undergoes a coagulogram - a basic blood test for thrombophilia, which allows diagnosing problems with hemostasis and hemorheology. It includes defining parameters such as:

blood clotting time;
APTT;
prothrombin index;
thrombosed time;
fibrinogen concentration;
fibrinolytic activity;
activated recalcification time;
period of lysis (dissolution) of the euglobulin clot;
antithrombin activity;
clotting factors;
D-dimer, etc.

To identify a gene mutation, additional testing is necessary.

A separate examination is prescribed if a genetic mutation is suspected in order to identify gene polymorphism and confirm congenital predisposition to the disease. To do this, it is necessary to perform specific tests. Determining the form of genetic characteristics makes it possible to choose treatment tactics for patients who have a gene mutation. Analysis for hereditary thrombophilia includes detection of the most commonly inherited polymorphisms:

blood clotting genes - F2, factor V-Leiden, F7, F13, etc.;
antithrombin 3 mutation;
deficiency of proteins C and S;
MTHFR gene;
plasminogen activator inhibitor gene PAI-1 4G/5G, etc.

Tests can be taken in laboratories where there are all conditions for studying the material. In large medical centers the pathology is diagnosed using a special test system “Cardiogenetics of thrombophilia”. When planning pregnancy, screening tests are performed. The main preparation requirement is to abstain from food for 8 hours before the test. Sometimes necessary differential diagnosis to distinguish the disease from hemophilia.

Explanation of analysis, norms and deviations

Gene polymorphism is not an indispensable criterion for the development of the disease, but it does cause a greater risk of its development, especially when exposed to various external factors.

The study may provide positive result.

The genotype of the polymorphism in a patient can be represented by the following options:

GG - normal;
A/A - homozygote;
G/A - heterozygote.

Thrombophilia test results indicate the presence or absence of a mutation. A blood test may show the following results:

No mutations were identified.
Homozygous - indicates the presence of two genes with an altered structure, so the likelihood of the disease occurring is high.
Heterozygous. It means that the patient is a carrier of one altered gene, and the likelihood of the disease is low.

The breakdown of the gene polymorphism analysis is shown in the table:

The data obtained during the blood test must be assessed by a specialized physician.

Based on these data, a prognostic conclusion is formed about a person’s genetic predisposition to the development of thrombophilia and the degree of risk of thrombosis. When testing blood in the laboratory, they use various techniques, so the figures may vary slightly. Evaluation of the results should be carried out in accordance with the standards of the individual laboratory by a hematologist. The norms of individual blood coagulation parameters are shown in the table.

Thrombophilia is a genetically determined, increased ability of blood to form pathological clots in blood vessels or in the cavity of the heart. It is classified as a disease with “late manifestation”: it can appear in adulthood, during pregnancy and cause emergency conditions- such as thromboembolism, intrauterine fetal death, heart attack or stroke.

Testing for carriage of thrombophilic gene polymorphism can be done at the Women's Medical Center on Zemlyanoy Val. To do this you need to submit general analysis blood, D-dimer, APTT, Antithrombin III, Fibrinogen - these are mandatory tests, they accurately detect pathology.

At the second stage of diagnosis, the disease is differentiated and specified using specific tests:

Lupus anticoagulant (LA).
Antiphospholipid antibodies (APL).
Testing 8 genes for mutations and polymorphisms, including factor II or F2 (prothrombin), factor V (Leiden), factor I or F1 (fibrinogen).

All these studies together make it possible to obtain a genetic passport for thrombophilia.

Download the form for hemostasis mutations

Cost of testing for thrombophilia*

3 500 R Initial consultation with a hemostasiologist
2 500 R Repeated consultation hemostasiologist
1 000 R 1 300 R Hemostasiogram (coagulogram)
700 R Clinical analysis blood
1 300 R D-dimer (quantitative)
1 300 R D-dimer (Ceveron)
400 R APTT test
1 200 R Antithrombin III
300 R Fibrinogen
500 R Lupus anticoagulant (LA)
1 300 R Antiphospholipid antibodies (APA) IgG
1 000 R Analysis for mutation in the factor V gene (FV Leiden)
1 000 R Analysis for mutation in the factor II (prothrombin) gene
1 000 R Analysis for mutation in the JAK2 gene
1 000 R Analysis for polymorphism in the factor II (prothrombin) gene
1 000 R Analysis for polymorphism in the factor I (fibrinogen) gene
1 000 R Analysis for polymorphism in the factor XII gene (Hageman factor)
1 000 R Analysis for polymorphism in the MTHFR gene
1 000 R Analysis for polymorphism in the GpIba glycoprotein gene
300 R Blood collection

Why get tested for hereditary thrombophilia?

Risk factors that activate thrombophilia genes in completely healthy person, are:

operations in the field of large great vessels- on hip joint, pelvic organs;
metabolic disorders in the body - diabetes, obesity;
hormone therapy- replacement, when planning IVF, taking contraceptives;
physical inactivity - restriction of physical activity;
pregnancy and postpartum period.

Analysis for genetic thrombophilia is especially relevant when planning pregnancy or IVF. In pregnant women, the level of blood clotting factors 1, 5 and 8 increases, and the activity of the anticoagulation mechanism, on the contrary, decreases. With a hereditary tendency to thrombosis, these physiological changes in the body can provoke recurrent miscarriage, placental insufficiency, placental abruption, intrauterine growth restriction and other obstetric complications.

Knowing the patient’s tendency to venous thrombosis, the doctor will be able to prescribe anticoagulant therapy, recommend a diet, and to the expectant mother With genetic thrombophilia- provide competent pregnancy support.

Specialists

How to take a blood test for thrombophilia

Genetic analysis is carried out once, its results are valid throughout a person’s life. Blood for testing for hereditary thrombophilia is taken from a vein in the morning, regardless of food intake.

The turnaround time for test results is 7-10 days.

Video about the prevention of complications in pregnant women with thrombophilia

Thrombophilia is the most important link in the development of pregnancy complications. Issues of fetal loss, preeclampsia, thromboembolic complications associated with disorders of the blood coagulation system are covered by Victoria Omarovna Bitsadze, professor, hemostasiologist, obstetrician-gynecologist of the Medical Women's Center in the program “Issues of the pathogenesis and prevention of repeated reproductive losses.”

obstetrician-gynecologist, hemostasiologist

Decoding the thrombophilia test

With thrombophilia, a person receives from his parents 1 normal and 1 altered copy of the gene (heterozygous mutation), or 2 mutated genes at once. The second variant of the polymorphism, homozygous, indicates a high risk of developing thrombosis.

The analysis for thrombophilia includes the study of 8 genes responsible for the mechanisms of hemostasis - the blood coagulation system:

Gene F13A1 - polymorphism of the 13th coagulation factor causes a tendency to hemorrhagic syndrome, hemarthrosis, thrombosis.
ITGA2 - changes in the integrin gene indicate the risk of ischemic stroke and thrombosis in the postoperative period.
Serpin1 gene - a mutation of this DNA section is unfavorable for pregnancy: it provokes recurrent miscarriage, fading and intrauterine growth retardation, preeclampsia.
F5, Leiden factor - affects pregnancy in the 2nd and 3rd trimesters, creates a tendency to thrombosis of arteries and veins lower limbs.
FGB - fibrinogen polymorphism indicates the risk of strokes, miscarriage and fetal hypoxia.
ITGB3 - gene mutation makes possible occurrence thromboembolism, myocardial infarction and spontaneous abortion.
F7 - the seventh plasma factor is responsible for hemorrhagic syndromes in newborns.
F2 - changes in 2 prothrombin genes are an indirect cause of thromboembolism, strokes, postoperative and obstetric complications.

Where to get tested for genetic thrombophilia

Detailed diagnosis of thrombophilia and other genetic mutations hemostasis is carried out in the experimental laboratory of the MLC. With us you can get a consultation with a geneticist, hemostasiologist and go through all necessary research when planning pregnancy.

Blood tests are performed using electronic analyzers and specific reagents, which guarantees their 100% accuracy. You can find out the cost and sign up for an examination from the administrator of the Women's Medical Center.

Thrombophilia is a collective term; it refers to disorders of hemostasis in the human body, leading to thrombosis, that is, the formation of blood clots and blockage of blood vessels by them, accompanied by characteristic clinical symptoms. It is currently believed that the hereditary component is important in the development of thrombophilia. It was found that the disease occurs more often in people predisposed to it - carriers of certain genes. Now it is possible to conduct an analysis for thrombophilia, that is, to determine the predisposition, determined by a set of genes, to the formation of blood clots. The specifics of the analysis will be discussed below.

To whom is it assigned?

Any person can take a test for genetic thrombophilia, since the test is simple to perform and has no contraindications. However, according to doctors, it makes no sense to diagnose everyone. Therefore, thrombophilia markers are recommended to be determined for the following categories of patients:

Almost all men.
People over 60 years old.
Blood relatives of people who have had thrombosis of an unknown nature.
Women during pregnancy at risk of developing thrombosis, as well as patients planning pregnancy and taking oral contraceptives.
People with cancer, autoimmune processes and metabolic diseases.
For patients after surgical treatment, serious injuries, infections.

Special indications for testing for thrombophilia, the cause of which is a polymorphism of genes that programs blood clotting processes, are pre-existing pregnancy pathologies in women: spontaneous abortion, stillbirth, premature birth. This category also includes women who had thrombosis during pregnancy. It is these groups of patients that should be examined first. The test will identify changes associated with polymorphism of coding genes and prescribe necessary treatment. Therapy will help prevent intrauterine fetal death, thrombosis in the early and late postpartum periods, and fetal pathology during the next pregnancy.

A number of genes are responsible for the formation of blood clots.

The essence of the study

In genetics there is such a thing as gene polymorphism. Polymorphism presupposes a situation where different variants the same gene. The genes responsible for polymorphism and being the “initiators” of thrombophilia are:

Genes of the blood coagulation system.
The gene encoding prothrombin.
The gene encoding fibrinogen.
Glycoprotein Ia gene.
Genes responsible for vascular tone, etc.

That is, there are many genes responsible for polymorphism. This explains the frequency of occurrence of the condition, the difficulties of diagnosis, as well as the possible difficulties of searching for the causes of some pathologies. As a rule, people think about polymorphism and hereditary or congenital thrombophilia when all other causes leading to thrombosis are excluded. Although in fact, gene polymorphism occurs in 1-4% of people in the population.

How is it carried out?

The test is carried out in a regular laboratory, which has created the necessary conditions for sterile collection of material. Depending on the resources of the medical institution, the following may be taken for analysis:

Buccal epithelium (buccal epithelium).
Venous blood.

No special preparation is required for the analysis. The only one possible condition, perhaps, is donating blood on an empty stomach. You need to talk about all the details in advance with the specialist who referred you for the test. The doctor will tell you how to take the test and what it is called correctly.

results

Decoding the analysis has its own characteristics. The fact is that for different patients, taking into account information about previous diseases, general condition, as well as why the test is prescribed, a study of various indicators may be prescribed. A list of the most frequently recommended ones will be presented below.

Plasminogen activator inhibitor. This analysis determines the “work” of the gene responsible for activating the process of fibrinolysis, that is, the breakdown of a blood clot. The analysis reveals the predisposition of patients with hereditary thrombophilia to the development of myocardial infarction, atherosclerosis, obesity, coronary disease hearts. Analysis transcript:

5G\5G – level is within normal limits.
5G\4G – intermediate value.
4G\4G – increased value.

There are no normal values for this indicator. In this way, exclusively gene polymorphism is determined.

The plasminogen activator inhibitor assay determines the functionality of the gene responsible for the breakdown of blood clots.

The level of fibrinogen, the most important substance involved in the process of thrombus formation, is determined by the marker fibrinogen, beta polypeptide. Diagnostics makes it possible to identify polymorphism of the gene responsible for the level of fibrinogen in the blood, which is important in case of previous pathologies of pregnancy (miscarriage, pathologies of the placenta). Also, the results of the thrombophilia test suggest the risk of stroke and thrombosis. Explanation:

G\G – the concentration of the substance corresponds to the norm.
G\A – slight increase.
A\A – significant excess of the value.

The functioning of the coagulation system and the presence of genetic thrombophilia are also assessed by the level of clotting factor 13. Deciphering the analysis allows us to identify a predisposition to thrombosis and the development of myocardial infarction. Diagnostics reveals the following possible options gene polymorphism:

G\G – factor activity is normal.
G\T – moderate decrease in activity.
T\T – significant decrease. According to studies, in a cohort of people with the T\T genotype, thrombosis and concomitant pathologies are significantly less common.

Diagnose the Leiden mutation responsible for early development thromboembolism, thrombosis, preeclampsia, thromboembolic complications that occur during pregnancy, ischemic strokes can be determined by determining the level of coagulation factor 5, encoded by the F5 gene. Clotting factor is a special protein contained in human blood and is responsible for blood coagulation. The frequency of occurrence of the pathological allele of the gene is up to 5% in the population. Diagnostic results:

G\G – the concentration of the substance corresponds to the norm. There is no genetic thrombophilia.
G\A – slight increase. There is a predisposition to thrombosis.
A\A – significant excess of the value. Diagnostics showed a predisposition to increased blood clotting.

Diagnosis of the Leiden mutation determines the blood clotting factor.

In women with proposed future therapy with female sex hormones or patients with the need to use oral contraceptives, it is recommended to diagnose the level of factor 2 of the blood coagulation system. Its determination makes it possible to identify the risk of developing thromboembolism, thrombosis, myocardial infarction during pregnancy and during treatment. Factor 2 of the blood coagulation system is encoded by the F2 gene, which has a certain polymorphism. The factor is always present in the blood in an inactive state and is a precursor of thrombin, a substance involved in the coagulation process. At the end of the diagnosis, the following result may be indicated:

G\G – there is no genetic thrombophilia or increased blood clotting.
G\A – there is a predisposition to thrombosis. Heterozygous form of thrombophilia.
A\A – high risk of thrombosis.

In addition to genetic markers of thrombophilia, the doctor may prescribe related studies, for example, determination of D-dimer, which is a marker of thrombosis. D-dimer is a fragment of split fibrin and appears during the process of dissolution of the blood clot. With the exception of pregnant women, test results will be considered normal if they are within the reference values of 0-0.55 mcg/ml. As the gestational age increases, the indicator values increase. An increase in value can be observed not only with thrombophilia, but also with a number of oncological diseases, pathologies of the cardiovascular system and liver, after injuries and recent operations. In these cases, diagnosis of thrombophilia will be uninformative.

APTT analysis is done to show general work cascade of the blood coagulation system.

An almost routine analysis is an analysis called APTT, that is, the determination of activated partial thromboplastin time, that is, the time period during which a blood clot forms. The significance of the analysis shows not so much the presence of hereditary thrombophilia, but rather the overall functioning of the cascade of the blood coagulation system.

Other markers of congenital thrombophilia are also prescribed: determination of beta-3 integrin, alpha-2 integrin, blood clotting factors 7 and 2, methylene folate reductase. Also, to diagnose the functioning of the coagulation system, the levels of fibrinogen, triglycerides, homocysteine, cholesterol, antithrombin 3 and thrombin time are determined. The exact volume of tests that needs to be performed is determined by the doctor, taking into account the immediate indications for diagnostics.

Average prices

Analysis of the work of genes responsible for polymorphism and the presence of congenital thrombophilia is not a routine study, so diagnosis is hardly possible in an average medical institution. In larger medical centers and commercial clinics, the examination is performed using a special Cardiogenetics Thrombophilia test system. The cost of such a study may vary significantly. You can find out how much the test costs directly from the medical institution where it will be carried out.

Average prices

It is better to find out more about how much a test to detect thrombophilia costs directly on site, since the cost indicated online may not correspond real values due to the irrelevance of the information provided.

Thrombophilia is dangerous because it does not manifest itself in any way, and the patient may not even know about the presence of pathology until thrombosis occurs. It is often discovered by chance when preventive examination or diagnosis of another disease. However, in some cases, the attending physician may give a referral for testing to detect thrombophilia if the patient has signs of this disease.

Indications for the examination are the following factors:

Thrombophilia was identified in one or more direct blood relatives - father, mother, son, daughter, brother or sister. Since the predisposition to the formation of blood clots in many cases is influenced by a hereditary factor, the presence of this disease in one of the relatives is a direct indication for undergoing an examination.
At least one direct blood relative experienced thrombosis before the age of 50 years. In this case, the nature of the occurrence can be any; the formation of the pathology could be influenced by both vascular damage during surgery and genetic features circulatory system.
Thrombosis is a rare type of localization. In the vast majority of cases, a blood clot forms in the vessels of the lower extremities or pelvic organs; less often, pathology occurs in the arms. Unusual place localizations are, for example, the sinuses of the brain or liver.
Repeated thrombosis of any location. If, after curing one thrombosis, a relapse occurs after some time, thrombophilia can be suspected. Wherein an important condition is to follow the doctor’s recommendations, but if preventive treatment is ignored, repeated thrombosis may not indicate a genetic predisposition.
Planning a major protracted operation with a high risk of thrombosis. If the patient requires serious surgical intervention, it is advisable to get tested for a genetic predisposition to the formation of blood clots. They often occur after operations.
Development of thrombosis under the influence hormonal drugs, for example, oral contraceptives (birth control pills).
The occurrence of thrombosis during pregnancy. Under the influence of pregnancy, a woman’s body becomes vulnerable, and many pathologies that were previously secretive manifest themselves.
Pregnancy problems - female infertility, ineffectiveness of IVF, fading of pregnancy, miscarriage, premature birth. All this can occur under the influence of thrombophilia.

Thrombophilia is especially dangerous during pregnancy, since there is a high probability of complications for both mother and child.

Some doctors recommend that every woman carrying a child or planning a pregnancy be tested for thrombophilia. Other experts believe that testing is necessary only if there are predisposing factors.

Give birth healthy child Almost every woman with thrombophilia can do it if she adheres to the doctor’s instructions. Childbirth takes place naturally.

How is the diagnosis carried out?

There are no external signs and symptoms of pathology, so diagnosis is a combination of laboratory tests. First of all, the patient needs to take a finger prick blood test (general analysis) to determine the level of red blood cells and platelets. An increase in the concentration of these cells becomes an indication for the second part of the examination - conducting specific tests for deviations of various hemostasis factors to specify the pathology.

Diagnosis of thrombophilia includes the following tests:

Coagulogram. This is the main test for studying the blood coagulation system; the sample is taken from a vein. The coagulogram is carried out on an empty stomach, the evening before dinner should be light, and the intake of any alcoholic beverages is prohibited.
APTT. Created in the laboratory artificial conditions for blood clotting, and the time of clot formation is recorded. Blood is drawn from a vein.
Thrombosed time. This is an indicator of the rate of blood clotting under the influence of external factors.
Prothrombin index. This is an indicator calculated as the ratio of the patient's thrombosed time to the control plasma's thrombosed time.
D-dimer. This is a protein fragment formed during the breakdown of fibrin, which is involved in the formation of blood clots. The test is taken from a vein in the morning on an empty stomach.

These are the main tests that allow you to understand in which direction to move next, and what other examinations will be required. After the initial diagnosis, tests are carried out for specific markers of thrombophilia, which make it possible to make a final diagnosis and give the patient appropriate prescriptions for treatment. Follow-up includes the following items:

Fibrinogen test (factor I). Fibrinogen is a protein produced in the liver and directly affects blood clotting. The analysis reveals the amount of this component dissolved in the blood.
Analysis for proteins S and C. Proteins S and C are protein compounds of the anticoagulant system, thanks to them the blood in the vessels is in a liquid state. Blood is drawn from a vein, and at least a month must pass after taking anticoagulants. It is not recommended to undergo examination in case of acute thrombophlebitis or during menstruation.
Homocysteine test. This is an amino acid, changes in the level of which can lead to problems with cardiovascular system. The analysis is carried out on an empty stomach, using venous blood.
Lupus anticoagulant. This is a group of proteins that appear in the blood as a result of a malfunction immune system, normally a healthy person does not have them. Before taking the test, you need to stop taking coumarin drugs 2 weeks before, and Heparin 2 days before.
Antihemophilic globulin (factor VIII). This component is produced in the liver, spleen, pancreas, kidneys and muscle tissue, affects hemophilia and the risk of thrombosis.
Bleeding time. During the analysis, a puncture is made with a special needle in the finger or earlobe, after which the bleeding time is measured and compared with normal values.
Von Willebrand factor. It is a glycoprotein that promotes the activation of platelets and factor VIII. No special preparation is required for the analysis; venous blood is donated.
Fibrinolytic activity. This is an indicator of how long it takes for blood clots to dissolve. No special preparation is required; venous blood is donated in the morning on an empty stomach.

All of the above tests are standard studies of the coagulation and anticoagulation components of hemostasis. They can identify acquired hemophilia. There are also separate specific tests, which are prescribed to identify genetic mutations in hereditary pathologies. Diagnosis in this case is carried out using polymerase chain reaction(PCR), but each factor is studied separately and has its own name.

Analysis for genetic thrombophilia includes the following tests:

Leiden mutation (V factor);
thrombosed mutation (factor II);
MTHFR gene mutation;
plasminogen SERPINE1 mutation.

These tests are aimed at identifying gene polymorphisms. This is a condition in which certain genes are present in different variations (alleles), causing variation in certain traits. Hereditary thrombophilia most often occurs due to mutation of the listed genes, but polymorphism of factors VII and XII, as well as some other components, is also possible.

The test results indicate the presence or absence of mutations. Normally, a healthy person should not have them. There may also be a conclusion about the heterozygous form of the mutation, when one allele of the gene is within normal limits, and in the other a mutation is diagnosed, and about the homozygous form, that is, the identity of the mutation of the alleles.

It should be borne in mind that not every patient with thrombophilia has own experience learn what thrombosis is. A person can live his whole life with gene polymorphism and not know about it, since the disease will not manifest itself even under the influence of provoking factors. Each situation is individual. However, you should not hope for chance; if thrombophilia is confirmed in laboratory, you must follow all the doctor’s recommendations in order to reduce the risk of blood clots.

Where to get tested

Not every patient knows where to get tested for thrombophilia, since only a few have experienced this personally. Every city has its own medical institutions, so it’s impossible to say exactly where to go. However, almost everywhere there are clinical diagnostic centers intended directly for examination in case of all kinds of pathologies. You can also contact private clinic if it provides such services. You cannot undergo such an examination in public clinics.

The cost of services from different medical institutions varies depending on the region. Average cost of some tests:

On average, specific tests for thrombophilia cost between 1,500 and 4,000 rubles. Some clinics include other indicators in the coagulogram, for example, protein time and protein index, so total cost it turns out less. It should also be taken into account that in some medical institutions A separate fee is required directly for blood sampling, on average 200 rubles.

A referral for tests can be given by any doctor - therapist, surgeon, phlebologist, etc., but only a hematologist should decipher the results. He also gives the patient further instructions - prescribes a course medicines, suggests diet, lifestyle adjustments, etc. Compliance with these instructions can significantly reduce the risk of thrombosis.