Thrombophilia is a condition characterized by a deficiency in blood clotting. Normally, blood clots or thrombi play a role in stopping bleeding. In the case of thrombophilia, the clots do not dissolve and enter the bloodstream, which can lead to serious complications. What are the symptoms of thrombophilia and how can it be treated? Find out all the details from the specialists of the Vascularte clinic.
Thrombophilia is a condition characterized by poor blood clotting. Blood clots, instead of stopping bleeding, enter the bloodstream and block circulation. They can also occur regardless of the existence of lesions, which considerably increases the risks of developing complications such as deep vein thrombosis, pulmonary embolism, heart attack or stroke. That is why early diagnosis and treatment are recommended.
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There are two types of thrombophilia: hereditary thrombophilia and acquired thrombophilia.
Acquired thrombophilia
It occurs throughout life, as a result of secondary diseases such as autoimmune (antiphospholipid syndrome), traumatic or malignant ones.
The most common cause of acquired thrombophilia is an antiphospholipid syndrome, a condition that is manifested by the production of antiphospholipid antibodies. Phospholipids are the ones that ensure the normal consistency of the blood.
The antiphospholipid syndrome may increase the risk of pregnancy complications, such as miscarriage, preeclampsia, or stillbirth. Acquired thrombophilia can also be caused by a long period of bed rest.
Hereditary thrombophilia
The most common types of hereditary thrombophilia are those caused by mutations in the F5 and F2 genes. Other types of hereditary thrombophilia are congenital dysfibrinogenemia, hereditary antithrombin deficiency, heterozygous protein C deficiency or heterozygous S protein.
Even if the mutations exist, this does not mean that the person will develop the disease automatically.
One important thing to note is that hereditary thrombophilia increases the risk of miscarriage.
The symptoms of this condition appear when blood clots develop. Therefore, in the vast majority of cases, patients do not even know that they suffer from thrombophilia only in advanced stages, when conditions such as deep vein thrombosis or pulmonary embolism occur.
Symptoms of deep vein thrombosis include:
Symptoms of pulmonary embolism:
Thrombophilia can be diagnosed by performing blood tests. They can only identify the condition, not the trigger.
In the case of hereditary thrombophilia, it is indicated to carry out a genetic profile that includes the mutations of the factors involved in the appearance of the disease. Antiphospholipid syndrome can also be diagnosed with the help of specific IgG and IgM antibodies anticardiolipin, anti-beta 2 glycoprotein and antiphospholipid along with lupus anticoagulant.
It is not uncommon for women with thrombophilia to develop problems during pregnancy. However, there is a higher risk for them to develop deep vein thrombosis in pregnancy than for women who do not suffer from thrombophilia.
When establishing the diagnosis of thrombophilia in pregnant women, regular ultrasound monitoring of uterine circulation, fetal growth rate and placental evolution are indicated, with quantitative determination of DDimeri titer (coagulation marker). This monitoring helps to reduce the risk of developing complications such as:
Moreover, blood tests to diagnose thrombophilia in pregnancy are essential in the case of a history of spontaneous pregnancy loss.
Careful monitoring of patients is required after birth, as there is a risk of severe thrombosis in the first 6 weeks.
Thrombophilia treatment is given only when the blood clots develop. In the case of hereditary thrombophilia, specialists recommend injectable treatment with anticoagulants, to reduce the risk of thrombosis in pregnancy.
To prevent blood clots, it is recommended that patients have a healthy lifestyle, a balanced diet and exercise regularly.