Thrombophilia: symptoms, causes and how to treat

Thrombophilia happens when the person is more easily able to form blood clots, increasing the risk of complications such as venous thrombosis, stroke or pulmonary embolism, for example. Thus, people with this condition usually experience swelling in the body, inflammation of the legs or feeling short of breath.

The clots formed by thrombophilia arise because the blood enzymes, which make the clotting, stop working properly. This can happen due to hereditary causes, by genetics, or it can happen due to causes acquired throughout life, such as pregnancy, obesity or cancer, and the chances can also increase through the use of medications, such as oral contraceptives.

Main symptoms

Thrombophilia increases the chances of blood thrombosis forming and, therefore, symptoms can arise in the case of complications in some part of the body, such as:

• Deep vein thrombosis: swelling of some part of the glass, especially the legs, which become inflamed, red and hot. Understand what thrombosis is and how to identify it; Pulmonary embolism: severe shortness of breath and difficulty breathing; Stroke: sudden loss of movement, speech or vision, for example; Thrombosis in the placenta or umbilical cord: recurrent miscarriages, premature birth and complications in pregnancy, such as eclampsia.

In many cases, the person may not be aware that he has thrombophilia until a sudden swelling appears, has frequent abortions or complications during pregnancy. It is also common to appear in elderly people, since the frailty caused by age can facilitate the onset of symptoms.

What can cause thrombophilia

The blood clotting disorder that occurs in thrombophilia can be acquired throughout life, or be hereditary, passed from parents to children, through genetics. Thus, the main causes include:

1. Causes acquired

The main causes of acquired thrombophilia are:

• Obesity; Varicose veins; Bone fractures; Pregnancy or puerperium; Heart disease, infarction or heart failure; Diabetes, high blood pressure or high cholesterol; Use of medications, such as oral contraceptives or hormone replacement. Understand how contraceptives can increase the risk of thrombosis; Being bedridden for many days, due to surgery, or for some hospitalization; Sitting for a long time on a plane or bus trip; Autoimmune diseases such as lupus, rheumatoid arthritis or antiphospholipid syndrome, for example; Diseases caused by infections such as HIV, hepatitis C, syphilis or malaria, for example; Cancer.

People who have diseases that increase the chances of thrombophilia, such as cancer, lupus or HIV, for example, must have a follow-up through blood tests, every time they return with the doctor who does the follow-up. In addition, to prevent thrombosis, it is important to take preventive actions, such as controlling blood pressure, diabetes and cholesterol, in addition to not lying down or standing in travel situations during pregnancy, the puerperium or hospital stay.

The use of oral contraceptives should be avoided by women who already have an increased risk of thrombophilia, such as those who have high blood pressure, diabetes or a family history of blood changes.

2. Hereditary causes

The main causes of hereditary thrombophilia are:

• Deficiency of natural anticoagulants in the body, called protein C, protein S and antithrombin, for example; High concentration of the homocysteine ​​amino acid; Mutations in the blood-forming cells, as in the factor V Leiden mutation; Excessive blood enzymes that cause coagulation, such as factor VII and fibrinogen, for example.

Although inherited thrombophilia is transmitted by genetics, there are some precautions that can be taken to prevent the formation of clots, which are the same as for acquired thrombophilia. In very severe cases, the use of anticoagulant remedies may be indicated by the hematologist after evaluating each case.

What exams should be done

To diagnose this disease, the general practitioner or hematologist should be suspicious of the clinical and family history of each person, however some tests such as blood count, blood glucose and cholesterol levels may be ordered to confirm and indicate the best treatment.

When hereditary thrombophilia is suspected, especially when symptoms may be repetitive, in addition to these tests, dosages of blood clotting enzymes are required to assess their levels.

How the treatment is done

The treatment for thrombophilia is done with care to avoid thrombosis, such as avoiding standing still for a long time on trips, taking anticoagulant medications during a hospital stay or after surgery, and mainly, controlling diseases that increase the risk of clots, such as high blood pressure, diabetes and obesity, for example. Only in cases of serious illness, continuous use of anticoagulant drugs is indicated.

However, when the person already has symptoms of thrombophilia, deep vein thrombosis or pulmonary embolism, it is recommended to use oral anticoagulant drugs for a few months, such as Heparin, Warfarin or Rivaroxabana, for example. For pregnant women, the treatment is done with an injectable anticoagulant, being necessary to stay in hospital for a few days.

Find out which anticoagulants are most used and what they are for.