Useful information about the blood test for thrombophilia. Thrombophilia (Genetic predisposition) Thrombophilia basic profile 5 genes

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 of various locations by blood clots. During pregnancy, the first signs of the disease are possible with complications in the form of premature birth.

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Risk factors for thrombophilia

With a hereditary predisposition to increased blood clotting, a deficiency 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 do not manifest clinical signs until triggering 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 of a venous catheter to 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, an increased level of this amino acid is a sign of oxygen starvation of the fetus due to insufficient blood flow through the placenta; it is often combined with impaired metabolism of folic acid, vitamins B6 and B12, leading 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 test

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 cerebrovascular accidents 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 prolonged stays in a stationary position (pause for light warm-up), heavy lifting;
, swimming;
, stockings (especially during pregnancy and childbirth);
carry out self-massage with the application of venotonic gels (Gepatrombin);
build a healthy diet.

For drug therapy of thrombophilia, the following is used:

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 chokeberries, 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 physical activity, medication and an antithrombotic diet are recommended.

Useful video

Watch the video about thrombophilia and pregnancy:

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.
Patients after surgical treatment, serious injuries, infections.

Special indications for testing for thrombophilia, which is caused by gene polymorphism that programs blood clotting processes, are preexisting 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 the 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 involves a situation where different variants of the same gene may be responsible for the development of the same trait. 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 possible condition may be to donate 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 different patients, taking into account information about previous diseases, general condition, as well as why the test is prescribed, may be prescribed a study of various indicators. 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, and coronary heart disease. 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 variants of 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.

Diagnosis of the Leiden mutation, which is responsible for the early development of thromboembolism, thrombosis, preeclampsia, thromboembolic complications that occur during pregnancy, and ischemic strokes, can be done 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, and 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 in thrombophilia, but also in 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 the overall functioning of the blood coagulation cascade.

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 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 to real values due to the outdatedness of the information provided.

Readers often ask the question: what “thrombophilia test” should be taken if there is a tendency to thrombosis, or if thrombosis runs in the family. He talks in detail about tests for “genetic thrombophilia” and “gene polymorphism” doctor Vlasenko Natalia Alexandrovna

Congenital or genetic thrombophilia

In short, the list of recommended tests for genetic thrombophilia includes the standard tests listed, and some other genetic factors may be tested for special indications. More details on the website www.pynny. ru

Click on the table to enlarge

How to recognize genetic thrombophilia?

Such diagnoses and subsequent treatment are determined by a doctor - a person who has studied this for 6-7 years, and not by “experts” on forums.
Collect anamnesis, find out complaints, conduct an examination - this is what the doctor can do at the appointment. But this is not enough to make a diagnosis of “genetic thrombophilia”. It is imperative to undergo laboratory tests for thrombophilia.

Even the name of the disease “tells” us that genetic consultation is necessary. It is implied that there is an anomaly in some gene that determines the tendency to form a clot. The task of a geneticist is to find out in which gene this happened using a laboratory examination.

So that there is no doubt about the need to confirm the diagnosis and treatment of genetic tombophilia, you need to understand: why?
It is not thrombophilia itself that is dangerous to health, but its complications (heart attack, stroke, pulmonary embolism, thrombosis of mesenteric vessels, etc.).

Firstly, we cannot change the genotype, so we must come to terms with the presence of genetic thrombophilia.

Secondly, endogenous and exogenous factors can contribute to the “start” of thrombophilia. That is, if there is a genetic predisposition, then certain factors can trigger the development of this condition. Therefore, you need to know about the presence of your own characteristics in genes in order to understand how dangerous/useful the actions taken can be.

Thirdly, during surgery or invasive examination, the lack of information about the presence of genetic thrombophilia can significantly affect the outcome of the procedure.

Fourthly, preventing a disease is much easier than treating it. Therefore, by wisely adjusting physical activity and choosing the right diet, complications of thrombophilia are prevented.

Fifth, for each cause of thrombophilia, individual treatment is selected. Therefore, it is necessary to consult a doctor and get tested.

Tests for genetic thrombophilia

First, nonspecific blood tests are taken (the first stage), studies that are used to diagnose not only thrombophilia. They determine that there are disturbances in the blood coagulation system.

This general blood test, APTT, determination of D-dimer, quantitative study of antithrombin III, fibrinogen.

If thrombophilia is suspected, the general analysis should alert to an increased level of red blood cells and platelets.

Activated partial thromboplastin time APTT is the time interval during which a clot forms. This indicator determines the degree of activity of coagulation factors. A decrease in this blood indicator may indicate thrombophilia.

D-dimer is a substance that is formed when a blood clot is destroyed, the result of the breakdown of fibrin.
Its presence in the blood is possible during fibrinolysis and thrombus formation. Essentially, it is a marker of these processes. With thrombophilia, accordingly, its amount will increase.

The level of antithrombin III will also be underestimated, since it is it that activates the anticoagulation system of the blood. As the name suggests, this protein
prevents the formation of blood clots in the bloodstream.

Fibrinogen is a protein produced by the liver. It is the basis for the formation of a blood clot. The process looks like this: fibrinogen-fibrin-thromb.
In thrombophilia, the indicator is increased.

The second stage is specific studies: the level of lupus coagulant, antiphospholipid antibodies, homocysteine level, as well as genetic studies.
They make it possible to differentiate thrombophilia from other diseases.

Lupus anticoagulant is a specific protein that destroys the cell membranes of blood vessels, attaching to them, it begins to participate in the process of blood clotting, provoking thrombosis. BA is an immunoglobalin, an antibody against phospholipids. Its appearance is possible during autoimmune processes.

Antiphospholipid antibodies. There are several types and names (including lupus anticoagulant). They are also capable of destroying cell membranes. With an increase in their number, one can think of antiphospholipid syndrome.

High homocysteine also occurs with vitamin deficiency. group B, adynamia, nicotine abuse.

Thrombophilia gene polymorphism

Genetic studies for thrombophilia are a separate matter.

There is a concept of “gene polymorphism”. To understand why an analysis for genetic thrombophilia is needed, you need to know what exactly we are studying.

Gene polymorphism is the diversity of genes. More precisely, one gene can be represented by several variants (alleles).

At the molecular level, it looks like a “train with carriages,” where the train is a gene, and the carriages are DNA nucleotides. When “cars” fall out of composition or change their sequence, this is gene polymorphism. And there can be a million variations.

Predisposition to genetic thrombophilia is determined by certain genes, or rather their mutations and abnormal changes. To confirm or exclude the diagnosis, a comprehensive examination is performed. All genes that are “interested” (can influence) in the development of the disease are studied at the molecular level.

To determine gene polymorphism, either blood or epithelium from the cheek is taken for analysis. Typically, 8 (minimum) – 14 polymorphisms are studied.

Most common mutations

polymorphism of the fifth coagulation factor (Leiden factor);
In the mutant gene, guanine is replaced by adenine, and as a result, the properties of the amino acid change. Inherited in an autosomal dominant manner;
mutation of the second blood clotting factor (prothrombin).
Guanine is also replaced by adenine, but in a different position.
This polymorphism may be important for the prognosis of the disease in patients taking hormonal drugs;
polymorphism of blood clotting factor I - fibrinogen. Normally, fibrinogen is converted into fibrin, then a blood clot forms.
With this mutation, the percentage of fibrinogen is higher, which increases the risk of blood clot formation;
polymorphism of the seventh coagulation factor. It is an enzyme, an activator of factors IX and X. By using
The seventh factor causes the formation of a blood clot. When factor X is activated, prothrombin is simultaneously activated, which then turns into thrombin;
polymorphism XII of blood coagulation factor is characterized by a decrease in enzyme activity. Because of this, the “quality” of fibrin fibers and clot suffers, and fibrinolysis occurs faster;
abnormalities of platelet receptors for collagen and fibrinogen. When the properties of receptors change, the rate of platelet adhesion increases and platelet hyperaggregation occurs. Such polymorphism is dangerous with the risk of pulmonary embolism, heart attack, miscarriage, and postoperative thrombosis.
plasminogen activator antagonist changes the efficiency of plasminogen activation and suppresses the process of fibrinolysis.
The number of guanine repeats changes. There are 5 guanine base repeat sequences (5G) and 4 guanine base repeat sequences (4G). The second option has an unfavorable prognostic value;
polymorphisms of protein C and S deficiency. These two “brother proteins” are inhibitors of thrombus formation, that is, they prevent it. With their deficiency, blood clots form more actively.
Proteins C and S “work as a team.” Their main goal is to destroy V and VIII
clotting factors to prevent fibrin loss. Protein S is a cofactor of protein C.

Now such informative genetic examinations are available to every patient. Caring and attentive attitude towards your health is the key to an excellent quality of life, regardless of age!

Nowadays, phlebologists and vascular surgeons very often prescribe laboratory tests for genetic thrombophilia; a full set of tests is expensive and not everyone can afford it. In this regard, the question arises whether it is necessary to succumb to the doctor’s persuasion and get tested for genetic diseases.

Geneticists are those who know what our ancestors suffered from

General provisions

Thrombophilia is a disease associated with the ability of blood to form blood clots inside a vessel. Mutations in genes can provoke a violation of the blood coagulation system and thereby provoke thrombosis.

By their nature, disturbances in the blood flow system can be caused by an increased effect of fibrin, impaired anticoagulant function, and impaired functioning of procoagulants. In all three groups of diseases there may be pathologies that differ in severe course and vice versa.

There are no standard instructions for managing the disease, since there are thousands of genetic mutations, and each person’s lifestyle is significantly different from others, so the manifestations of the disease will be different. The occurrence of thrombosis of deep vessels, including venous strokes, at a young age requires careful monitoring of patients, as well as careful diagnosis of diseases.

Who should you contact for help?

Most often, tests for thrombophilia are prescribed by a phlebologist or hematologist, when suspicion of genetic diseases can play a decisive role in later life.

When is it most likely:

The course of pregnancy, which is accompanied by venous thrombosis in the mother. This measure is often mandatory, since the disease is inherited. Giving birth to a child with thrombophilia often requires emergency medical attention.
Young people with deep vein thrombosis, as well as with abnormal location of blood clots. It is known that the first outbreaks of thrombosis often appear in childhood or adolescence. Normally, signs of “thick blood” are found in people over 40-50 years old.
Children of patients with diagnosed thrombophilia. The disease is inherited from generation to generation over many years, so identifying gene mutations in the next generation is an important aspect of life. Patients with hereditary pathology must take preventive measures to avoid causing blood clots.
Patients in whom thrombosis began to occur as a result of injury, or after extensive surgery. The decision on the need to do an analysis for congenital thrombophilia is made by the surgeon, but it is important to take into account the coagulogram data; if it does not cause concern to the doctor, then there is no need for examination.
Patients with frequent recurrent thrombosis and their children. Perhaps the cause of recurrent thrombosis is thrombophilia, so their prevention becomes an important part of the quality of life of patients.
Patients with resistance to anticoagulants. A reduced response to a number of anticoagulant drugs is a direct indication for diagnosing the patient, otherwise the treatment of thrombosis due to heredity may take a long time.

How it happens

Testing is a fairly standard procedure. Everyone probably passed a standard set of tests to get a job, school, or kindergarten. In general, laboratory testing for genetic mutations differs only within the walls of the laboratory, but for ordinary patients the procedure is quite familiar.

Venous blood

Venous blood contains not only genetic information, but also detailed information about its composition, viscosity, and the presence of disease markers. In some cases, the doctor prescribes not only an analysis for mutations in genes. The information contained in the blood helps to correctly adjust the patient’s treatment in the future.

So what needs to be done:

Select a clinic or laboratory. If you trust a clinic because you have used the services many times and know that they provide reliable information, then it is better to contact them. If there is no such clinic, then ask your doctor to recommend such a laboratory.
Switch to proper nutrition. Fatty foods significantly affect many indicators; analysis for hereditary thrombophilia does not require any special restrictions, however, at least 24 hours before the procedure, it is better to refrain from eating fatty foods.
Give up bad habits. It is better to avoid alcohol and cigarettes a week before the tests, but in the case of heavy smokers, this condition becomes almost impossible, so the break between donating blood and the last smoke break should be at least 2 hours.
Come hungry. All laboratory blood tests must be taken on an empty stomach. In general, it’s enough to have dinner and skip breakfast; if you don’t sleep at night and it’s difficult to figure out what “on an empty stomach” is, then skip food 6-8 hours before going to the clinic.
Trust the nurse. There are no manipulations that go beyond the usual. If you have ever donated blood from a vein, the procedure will be similar. For clarity, the process of blood sampling is shown in the photo.

Buccal epithelium for diagnosis

Sometimes the study is carried out by taking the epithelium. This method is painless and is quite suitable for children of any age.

What you need to know about this method:

Just as in the case of venous blood, it is necessary to decide on the clinic.
Be sure to maintain oral hygiene.
Before doing a test for hereditary thrombophilia, you must rinse your mouth with boiled water.
The scraping is taken with a cotton swab, which means it will not cause any unpleasant sensations.

Note! Usually there is a glass of water in any clinic, but just in case it is better to take a bottle of water boiled in advance with you.

Is it worth doing?

In most cases, patients are stopped either by fear of the procedure or by the price.

Of course, not everyone can afford a comprehensive examination costing about 15 thousand, but why is it important to know the data about the disease:

The presence of congenital thrombophilia requires the patient to pay careful attention to lifestyle. To avoid thromboembolism, it is necessary to follow certain rules, and in some cases even take medications.
Combined thrombophilias. The presence of one pathology does not exclude the presence of another; genetic mutations can be inherited from two parents with different types of thrombophilia.
Stillbirths and miscarriages. Children who inherit the same gene from two parents are stillborn. Thus, a genetic blood test for thrombophilia during pregnancy planning is quite reasonable. It is diagnostically significant to obtain data on the mutation of two parents, rather than one.
Calm. You can agree to the study for your own peace of mind, because if the parents had thrombophilia, then the child will not necessarily be born with such a mutation.

It is certainly possible to conduct separate studies for a specific type of mutation. That is, parents with a certain type of thrombophilia, if it is confirmed, can diagnose their child for this particular type of disorder.

Also, if we take into account that there are not many common thrombophilias, then it is possible to analyze only the most common pathologies.

This:

Factor V-Leiden disease;
Prothrombin mutation;
Mutation in antithrombin 3 genes;
Defect of proteins C or S;
Hyperhomocysteinemia.

If you want to learn a little more about these types of thrombophilias, you can refer to the video in this article. All these mutations may not manifest themselves at all, or, on the contrary, have obvious clinical manifestations. Some of them can be acquired over the course of life, which means that an analysis for congenital pathology will not show the presence of a mutation.

A comprehensive examination, unfortunately, also does not include all types of thrombophilias, but only the most common and clinically significant ones. Data from the comprehensive survey are presented in the table below.

Gene name	Frequency of occurrence	What are the consequences?
F2 - prothrombin	2 - 5%	miscarriage; miscarriages in the first trimester; complications of pregnancy in the form of gestosis, placental abruption, fetoplacental insufficiency; venous thromboembolism, including venous strokes; postoperative complications with possible death.
F5	2 - 3%	miscarriages in the II, III trimester; thrombosis in the cerebral vessels and venous vessels of the lower extremities; strokes; TELA.
F7	10 - 20%	Manifestations observed in newborns: hemorrhagic diathesis; bleeding from the umbilical wound; gastrointestinal bleeding; nosebleeds.
F13A1	12 - 20%	hemorrhagic syndrome; oligospermia; hemarthrosis.
FGB - fibrinogen	5 - 10%	strokes; miscarriage and pregnancy complications.
Serpin (PAL-1)	5 - 8%	miscarriage and complications of pregnancy; anomalies of intrauterine development of the fetus; coronary disorders.
ITGA2-a2 integrin	8 - 15%	postoperative complications in the form of thrombosis; heart attacks and strokes; thromboembolism, including thrombosis after; vascular stenting.
ITGB3-b integrin	20 - 30%	immunity to aspirin (partial). thromboembolism, including myocardial infarction; thrombocytopenia; miscarriages in early pregnancy.

Decryption rules

A few facts about decryption:

A geneticist deciphers such tests.
In the usual sense, genotype tests are not deciphered; there are no acceptable or unacceptable norms. A person’s genotype can be favorable, that is, without signs of mutation, or unfavorable.
Regardless of what the biological material was (blood, epithelium), the values will be the same throughout life.
The presence of the disease indicates a genetic predisposition, but outbreaks of thrombosis in a person may not appear throughout life.
Testing for mutations in genes is a long-term procedure. You will have to be patient; in some laboratories, the study is carried out within 14 days.
There is no need to retake the analysis. Human genes do not change with age, so a comprehensive test is done once in a lifetime.
Deciphering is required for vascular surgeons, obstetricians-gynecologists, hematologists, phlebologists, cardiologists. The fact of thrombophilia greatly facilitates the diagnosis of many diseases in these areas.
Genetic analysis is an expensive procedure, and if the patient does not have the opportunity to undergo it, then no one can force him.

Pay attention! Elderly people are most prone to the occurrence of vascular diseases and venous thrombosis, therefore, for them, a blood test for gene polymorphism in thrombophilia is practically not used.

What happens if the analysis shows the presence of a mutation or vice versa?

Depending on the test results, the doctor must adjust the treatment. For example, protein C deficiency may be caused by liver pathology, and not by hereditary mutations in genes.

In this case, the patient will be transferred to the hands of another specialist in the field. Since the level of proteins can change under the influence not only of hepatological diseases, but also due to pregnancy, oncology, age and other factors.

If a genetic test for thrombophilia confirms its presence, then the doctor will give appropriate recommendations that prevent the occurrence of thromboembolism in a specific type of disease. Or it will adjust the treatment of a disease or condition (deep vein thrombosis, miscarriages) with which the patient went to the hospital.