Thrombophilia occurs when the person is more likely 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 have swelling in the body, inflammation of the legs or feeling of shortness of breath.
The clots formed by thrombophilia arise because the blood enzymes, which make the clotting, cease to function properly. This can happen due to hereditary causes, genetics, or happenings acquired over a lifetime, such as pregnancy, obesity or cancer, and the chances can also be increased by the use of medications such as oral contraceptives.
Main symptoms
Thrombophilia increases the chances of thrombosis in the blood, so symptoms may arise if there are complications in any part of the body, such as:
- Deep venous thrombosis : swelling of some part of the cup, especially the legs, which become inflamed, red and hot. Understand thrombosis and how to identify;
- Pulmonary embolism : intense shortness of breath and difficulty breathing;
- Stroke : sudden loss of movement, speech, or vision, for example;
- Placental or umbilical cord thrombosis : recurrent miscarriages, preterm birth, and complications of pregnancy, such as eclampsia.
In many cases, the person may not know that they have thrombophilia until the onset of a sudden swelling, have frequent miscarriages or complications during pregnancy. It is also common to appear in elderly people, since the fragility caused by age may facilitate the appearance of symptoms.
What can cause thrombophilia
The blood clotting disorder that happens in thrombophilia can be acquired through life, or be inherited, passed from parent to child, by 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 contraception can increase the risk of thrombosis;
- Stay bedridden for many days due to surgery, or for some hospital stay;
- Spend a lot of time sitting on some 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, should be followed up by blood tests at each return with the doctor who follows up. In addition, to prevent thrombophilia, it is important to take preventive actions, such as controlling blood pressure, diabetes, and cholesterol, and not to lie down or stop for travel, during pregnancy, in the puerperium or in hospital.
The use of oral contraceptives should be avoided by women who are already at increased risk for thrombophilia, such as those with high blood pressure, diabetes, or a family history of blood changes.
2. Hereditary Causes
The main causes of hereditary thrombophilia are:
- Deficiency of the body's natural anticoagulants, called protein C, protein S and antithrombin, for example;
- High concentration of the amino acid homocysteine;
- Mutations in the blood-forming cells, as in the Leiden factor V mutation;
- Excess blood enzymes that cause clotting, such as factor VII and fibrinogen, for example.
Although hereditary thrombophilia is transmitted by genetics, there are some care that can be taken to prevent the formation of clots, which are the same as acquired thrombophilia. In very serious cases, the use of anticoagulant drugs may be indicated by the hematologist, after evaluation of each case.
What exams should be done
To diagnose this disease, the general practitioner or hematologist must suspect the clinical and family history of each person, however, some tests such as a blood count, glucose and cholesterol dosage may be requested to confirm and indicate the best treatment.
When hereditary thrombophilia is suspected, especially when the symptoms may be repetitive, in addition to these tests, the dosages of blood clotting enzymes are required to assess their levels.
How is the treatment done?
Treatment for thrombophilia is done with care to avoid thrombosis, such as avoiding time-consuming travel, taking anticoagulant medications during hospitalization or after surgery, and especially controlling diseases that increase the risk of blood clots such as high blood pressure, diabetes and obesity, for example. Only in cases of severe illness is the continued use of anticoagulant medications indicated.
However, when the person has symptoms of thrombophilia, deep vein thrombosis or pulmonary embolism, the use of oral anticoagulant medications for a few months, such as Heparin, Warfarin or Rivaroxaban, is recommended. For pregnant women, the treatment is done with injectable anticoagulant, being necessary to stay hospitalized for a few days.
Find out which are the most commonly used anticoagulants and what they are for.
