Genetic risk of thrombophilia (advanced)

Thrombophilia describes inherited and acquired prothrombotic conditions that predispose to venous but not arterial thromboembolism. People with hereditary thrombophilia tend to form clots due to a genetic predisposition inherited from their parents. People with inherited thrombophilia may have a family history of abnormal or excessive blood clotting. It is this category of people that may be recommended to analyze genetic markers of thrombophilia and the folate cycle.

Etiology

All etiological factors that provoke the progression of thrombophilia are divided into primary and secondary.

Hereditary or genetic thrombophilia progresses in a person who has a hereditary tendency to it (transmitted at the genetic level).

The following conditions can “activate” the disease:

• hereditary protein C deficiency. This substance is a natural anticoagulant. If its synthesis is disrupted in the body, this will lead to increased thrombus formation;
• blood clotting factor V. This pathology to a certain extent slows down the physiological process of blood coagulation, and therefore often leads to the progression of thrombophilia;
• deterministic lack of antithrombin (genetic). This substance is also an anticoagulant (an analogue of protein C). It is worth noting that its deficiency can be either congenital or acquired;
• combined hereditary thrombophilias. In this case, a person inherits several genes at once, which are “provocateurs” of thrombophilia.

Pathogenesis of thrombophilia

Secondary thrombophilia in humans develops against the background of pathologies already existing in the body:

• thrombocytosis;
• erythremia;
• malignant tumors;
• antiphospholipid syndrome;
• autoimmune pathologies.

Diagnostics

Hematologists examine patients. The task is quite difficult, since there are many development factors.

An example tactic is:

• Oral interview with the patient. What health complaints are present? This is valuable information in terms of detecting the possible location of a blood clot, if one already exists. The specialist’s task is to systematize the symptoms.
• Anamnesis collection. Important point. Upon receiving information, the doctor has the opportunity to investigate the origin of the pathological process. What is most valuable in diagnostics.
• General blood test. As a rule, in some conditions the concentration of platelets and other formed cells increases.
• Analysis of thrombophilia markers in the blood, in particular the level of specific protein C, as well as coagulation factor V. If at least one of them is changed, most likely there is a hereditary pathological process.
• Vascular ultrasound. Dopplerography. To assess the extent of the lesion and the exact location of the thrombus.
• X-ray, angiography.
• Vascular MRI may be prescribed. This is a last resort.

Diagnosis is quite difficult, but if the doctor knows where to go, there will be no problems with early detection of the disorder.

Classification

• vascular thrombophilia. The pathology usually develops against the background of ailments affecting the veins and capillaries. These include atherosclerosis, vasculitis, etc.;
• hematogenous. Pathologies in the blood coagulation system lead to its progression. This form is the most dangerous, since as it develops, the viscosity and fluidity of the blood changes. Its increased thickening can provoke thrombosis, embolism of medium and large vessels, ischemia and heart attack;
• hypodynamic. It is diagnosed when there is a violation of the contractility of blood vessels of various sizes.

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 clotting factors or substances that have 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.

We recommend reading about thrombosis and thrombophlebitis. You will learn about the difference between the concepts of thrombosis and thrombophlebitis, the causes and risk factors of these pathologies, diagnosis and treatment. And here is more information about the prevention of thrombosis of the veins and vessels of the lower extremities.

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.

Symptoms

Symptoms of the disease appear gradually. It is worth noting that they often manifest themselves so weakly that a person does not pay any attention to them and does not go to the doctor. Symptoms of the pathology directly depend on where in the circulatory system the blood clot has formed and to what extent the blood flow in this place is impaired, as well as whether the patient has underlying somatic diseases.

The main symptom that indicates the progression of the disease is pain at the location of the blood clot (arms, legs, etc.), as well as increasing swelling. If thrombosis of the leg veins is diagnosed, a dangerous complication often develops that can lead to death - pulmonary embolism.

Symptoms of thrombophilia

If the disease affects the lungs, the following symptoms appear:

• feeling of fullness in the chest;
• pain in the sternum;
• the patient complains of difficulty breathing and shortness of breath during normal physical activity.

With a malignant course of the pathology, the following symptoms may be observed:

• tissue necrosis;
• gangrene of the limbs;
• hemorrhagic purpura.

Traditional methods

What did our ancestors use to thin the blood? They used the gifts of the earth and animal ingredients to formulate ointments and drinks. In the treatment of thrombophilia, folk remedies are classified as auxiliary methods of therapy that complement the main course. The use of prescriptions must be coordinated with the attending physician to avoid complications.

Drinks for dissolving blood clots from:

• cranberries;
• meadowsweet;
• grapes (juice);
• horse chestnut;
• raspberries;
• sweet clover

Half a glass of natural grape juice per day reduces platelet activity by more than 60%. It is better to squeeze the juice yourself rather than drink a store-bought product. Train yourself not to add sugar to freshly squeezed juice. If it seems very sour, add a spoonful of honey.

How to make cranberry tea? To do this, you just need to put a couple of teaspoons of fresh berries in a glass of boiling water. When the berries are hot, lightly crush them with a spoon. It is better to drink tea with honey. Meadowsweet tea is made like this: put a pinch of dry herb in a cup of boiling water, cover with a saucer and wait 5 minutes. Then you can drink tea with honey.

Garlic has the ability to thin the blood and dissolve the protein fibrin. If there is no heartburn, garlic is used instead of blood thinning medications.

How to prepare a drink from clover? Dry grass (1 tbsp) is poured with cold boiled water (1 glass). The mixture is covered and placed in a dark place for 5 hours. Then the drink is filtered and taken half a glass three times a day.

Horse chestnut peel tincture is an effective blood thinner. In the spring, a tincture is made from the flowers in alcohol, and in the fall, from the peel. You need to peel the fruits and fill them with vodka (30 g of raw material per 0.5 l). The tincture is placed in a dark place for 14 days. When ready, take 30 drops three times a day. The droplets are diluted in water. The course is three weeks, a break is a week. Then the course is repeated. Drink the tincture before meals.

When treating thrombophilia, you should not drink infusions of herbs that thicken the blood. For example, from nettle. Also, don't eat bananas: they also make your blood sticky.

Good reviews about the tincture of Sophora japonica seeds. To prepare it, take 0.5 liters of vodka and 100 g of seeds. The ingredients are mixed and left in the dark for two weeks. Treat with the tincture for three weeks, drink 20 drops three times a day, dilute the drops in warm water. Take the tincture strictly before meals, half an hour.

Raspberries are a natural source of aspirin, which thins the blood. Unlike tablets, raspberry tea does not irritate the stomach walls and does not contribute to the development of ulcers. You can prepare a drink not only from berries, but also from leaves and twigs. The twigs need to be boiled or infused in a steam bath, like preparing oak bark. This is the most delicious and safe medicine for thinning the blood, eliminating foci of inflammation, and strengthening the immune system. Instead of tea, you can drink compotes.

Thrombophilia and childbearing

Thrombophilia often manifests itself during pregnancy. There are two reasons for this:

• additional load on the body of the expectant mother is provided by another formed circle of blood circulation - the placental;
• During pregnancy, a woman’s body “starts” a mechanism to increase blood clotting ability. The main goal of this process is to reduce the risk of possible blood loss.

Women with thrombophilia should be under constant medical supervision and, if necessary, undergo a course of treatment, since this condition can cause miscarriage and disturbances in intrauterine development of the fetus.

Genes as a fundamental factor in hereditary form

The genetically determined form of the disease is most often associated with a violation of the formation of coagulation factor 5. It is called the Leiden mutation. With this anomaly, factor 5 becomes insensitive to destruction by the enzyme and remains active, which increases the rate of blood clot formation. The second coagulation factor (prothrombin) is produced in excess quantities during a chromosomal defect, this shifts the balance towards thrombus formation.

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:

• atherosclerosis;
• myocardial and cerebral ischemia;
• obliterating endarteritis;
• 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; mutations can also affect the chromosomal apparatus 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.

Treatment

The pathology is treated by several doctors at once - a phlebologist, a hematologist and a vascular surgeon. It is important to first identify the true cause of the progression of the disease. Treatment will be most effective only if the root cause is eliminated.

Usually, doctors first resort to therapeutic treatment methods.

Drug therapy includes the following drugs:

• anticoagulants;
• disaggregants.

They also often resort to therapeutic bloodletting, hemodelution, and transfusion of fresh frozen plasma.

It is important to adhere to a special diet during treatment. In this case, the effectiveness of therapy increases several times. Foods that contain a lot of cholesterol are completely excluded from the diet. It is also prohibited to eat fatty and fried foods. The menu of a patient with thrombophilia must include vegetables, fruits, fresh herbs and dried fruits.

For mild forms of the disease, treatment is carried out using intravenous administration of lyophilized plasma, as well as dried donor blood. In severe cases, fibrinolytic drugs are included in the course of treatment. They are injected directly into the place where the embolus has blocked the blood vessel.

The treatment plan is developed strictly individually for each patient. To normalize blood circulation, doctors recommend:

• take walks in the fresh air more often;
• perform self-massage;
• phytotherapy;
• do therapeutic exercises;
• go swimming.

Why is an examination necessary?

will help determine the presence of a hereditary disease and the risk of complications - a study that will identify markers of blood clotting . Thanks to this survey, it is possible to promptly identify existing risks and promptly take the necessary measures to minimize them.

In the hereditary form of thrombophilia, gene polymorphism that regulates coagulation processes plays an important role. Different variations of the same gene can be responsible for the appearance of the same trait. Among the “culprits” of thrombophilia:

• Coagulation system genes encoding fibrinogen or prothrombin;
• Genes responsible for vascular tone;
• Gene for platelet glycoprotein, glycoprotein, etc.;

Due to their large number, diagnosis is often difficult.

In addition, polymorphism can be of two types: heterozygous and homozygous . In one case, there is a carriage of an “unfavorable” gene. In the second option, the situation is quite serious; a person is the owner of two recessive or dominant genes responsible for the appearance of certain characteristics. Moreover, there will not necessarily be mutations; the variant may well represent a natural variation. Therefore, by performing a genetic analysis for thrombophilia, it is possible to identify changes that are associated with gene polymorphism, prescribe the necessary medications that can reduce the risk of complications and determine measures to prevent them.