Genetic thrombophilia What we need to know

02.02.2024

Thrombophilia is a condition in which the probability of blood clots is increased. This condition is called hypercoagulation. Thrombophilia may be congenital or acquired.

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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.

Symptoms

Before the development of thrombosis, there may be no symptoms.

the brain

Hearts

Sudden fever pain

Sudden deterioration of speech or vision

Heart

increased breathing

Pain in the chest

Left arm pain syndrome

Profuse sweating

Feeling dizzy

Nausea

lungs

Increased frequency of asthma

increased pulse rate

painful inhalation

Pain in the chest

stomach

Nausea

Vomiting

Pain in the stomach

limbs

swelling

pain

A feeling of warmth

In addition to the listed causes, the cause of acquired thrombophilia may be:

Disseminated intravascular coagulation
Hepatitis
HIV
Liver diseases

Risk factors:

Excess weight

Pregnancy

Tobacco consumption

Atherosclerosis

Tumor

diabetes

Immovable lifestyle

Postoperative condition

Oral contraception

Hormone replacement therapy

Family history of hypercoagulation

old age

Terminated pregnancies

At least one episode of thrombosis before the age of 40

Diagnosis

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.

Antiphospholipid syndrome