Thrombophilia is a condition in which the probability of blood clots is increased. This condition is called hypercoagulation. Thrombophilia may be congenital or acquired.
Table of Contents
- Acquired thrombophilia is more common than congenital, and its cause may be: diseases, some medications, and others. The most common cause of acquired thrombophilia is antiphospholipid syndrome
- Genetic (hereditary) thrombophilia is the result of a mutation that an individual receives from one of their parents. The issue of genetic thrombophilia becomes relevant in case of history of terminated pregnancies, presence of thrombosis before the age of 40.
Genetic thrombophilia includes:
- Factor V Leiden gene mutation (1-5% of the general population) – risk of deep vein thrombosis.
- Prothrombin (factor II) mutation (1-5% of the general population) – pulmonary artery, deep vein thrombosis, terminated pregnancies.
- Protein C deficiency (less than 1% of the general population)
- Protein S deficiency (less than 1% of the general population)
- Protein Z deficiency – increases the risk of preeclampsia and pregnancy loss
- Antithrombin deficiency 500 case per 5000-1 people.
Before the development of thrombosis, there may be no symptoms.
Sudden fever pain
Sudden deterioration of speech or vision
Pain in the chest
Left arm pain syndrome
Increased frequency of asthma
increased pulse rate
Pain in the chest
Pain in the stomach
A feeling of warmth
In addition to the listed causes, the cause of acquired thrombophilia may be:
- Disseminated intravascular coagulation
- Liver diseases
Hormone replacement therapy
Family history of hypercoagulation
At least one episode of thrombosis before the age of 40
Diagnosis is based on anamnesis and objective clinical data, as well as laboratory tests.
Genetic thrombophilia research includes:
Factor V Leiden mutation
Mutation of prothrombin factor II
methylenetetrahydrofolate reductase (MTHFR) gene mutation
PAI-1 gene mutation
PAI-1 protein Plasminogen activator inhibitor that inhibits fibrinolysis (clot breakdown) and protects the body from bleeding.
It is assumed that, in addition to antifibrinolytic activity, PAI-1 protein is involved in the processes of cell migration and tissue renewal.
The gene SERPINE1 ensures the synthesis of the protein - plasminogen activator inhibitor-1 (PAI-1). At least three mutations of the SERPINE1 gene have been found in people with PAI-1 protein deficiency. PAI-1 protein deficiency leads to the development of pathological bleeding. In such people, bleeding from any wound is extremely profuse and prolonged, which can be life-threatening.
A mutation in the SERPINE1 gene causes a deficiency of the plasminogen activator inhibitor-1 protein or the synthesis of an inactive form of the protein.
Mutation of prothrombin (factor II) gene After Leiden factor V, it is second in the development of hereditary thrombophilia, which occurs in 20% of cases. This mutation was confirmed in patients with idiopathic thrombosis of portal vein and cranial sinus veins, taking oral contraceptives and in cases of pregnancy complications.
methylenetetrahydrofolate reductase (MTHFR) gene Mutation ~. MTHFR extension The gene synthesizes the enzyme methylene-tetrahydro-folate-reductase, which participates in the process of protein formation from amino acids. Its participation in the metabolism of folic acid is important, because the mirate form of folate is involved in the conversion of homocysteine to methionine. Methionine is an essential component for the formation of proteins and other compounds.
MTHFR extension Up to 40 gene mutations have been found in people with homocystinuria. Homocystinuria is a condition when the conversion process of homocysteine to methionine is disturbed. Such people often have: coagulation disorders, skeletal and nervous system development anomalies, damage to the organ of vision, retardation of mental development and others.
MTHFR extension The 2 most frequent gene mutations C677T and A1298C lead to a decrease in enzyme activity and are associated with the development of such pathologies as: homocystinuria, coagulation disorders, anencephaly, spina bifida and others.
The risk of acquired thrombophilia can be reduced by:
- By stopping the use of tobacco
- By maintaining a healthy weight
- with physical activity
- By reducing the use of estrogen-containing drugs (oral contraceptives)
- Timely treatment of diseases causing thrombophilia
- with tumor screening
When to see a doctor?
In the case of short-term limb swelling and hyperemia, shortness of breath, chest pain, bloody urine or feces, nosebleeds, acute abdominal pain, be sure to consult a doctor.
Laboratory "Synevo" offers diagnostic tests for genetic thrombophilia
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