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General Practice 2023

Thrombophilia: what é, symptoms, causes and treatment

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Thrombophilia: what é, symptoms, causes and treatment
Thrombophilia: what é, symptoms, causes and treatment

Thrombophilia is a condition in which a person is more likely to form blood clots, increasing the risk of serious problems such as venous thrombosis, stroke or pulmonary embolism, for example. Thus, people with this condition often 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 clotting, stop working properly. This can happen due to hereditary causes, genetics, or it can happen from causes acquired throughout life, such as pregnancy, obesity or cancer, and the chances can also increase by the use of medicines, such as oral contraceptives.

Main symptoms

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

  • Deep vein thrombosis: swelling of some part of the cup, 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: repeat miscarriages, premature birth, and pregnancy complications such as eclampsia.

In many cases, a person may not know they have thrombophilia until sudden swelling, frequent miscarriages, or complications during pregnancy occur.It is also common to appear in elderly people, as 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. So the main causes include:

1. Acquired causes

The main causes of acquired thrombophilia are:

  • Obesity;
  • Varicose veins;
  • Bone fractures;
  • Pregnancy or puerperium;
  • Heart disease, heart attack or heart failure;
  • Diabetes, high blood pressure or high cholesterol;
  • Use of medication, 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 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, should have a follow-up through blood tests, at each return visit with the doctor who does the follow-up. In addition, to avoid thrombosis, it is important to take preventive measures, such as controlling blood pressure, diabetes and cholesterol, in addition to not staying in bed or stationary for a long time in travel situations, during pregnancy, postpartum period or hospital stay.

Oral contraceptives should be avoided by women who already have an increased risk of thrombophilia, such as those with high blood pressure, diabetes, or a family history of blood disorders.

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 blood-forming cells, such as in factor V Leiden mutation;
  • Excess of blood enzymes that cause clotting, such as factor VII and fibrinogen, for example.

Although hereditary thrombophilia is transmitted by genetics, there are some precautions that can be taken to prevent clot formation, which are the same as for acquired thrombophilia. In very serious cases, the hematologist may indicate the use of anticoagulant drugs, after evaluating each case.

What tests to do

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

When there is suspicion of hereditary thrombophilia, especially when the symptoms can be repetitive, in addition to these tests, blood clotting enzyme dosages are requested to assess their levels.

How the treatment is done

Treatment for thrombophilia is carried out with care to avoid thrombosis, such as avoiding being stopped for a long time on trips, taking anticoagulant drugs during hospitalization 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 severe disease, the 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 Rivaroxaban, for example. For pregnant women, treatment is done with an injectable anticoagulant, requiring hospitalization for a few days.

Learn which anticoagulants are most commonly used and what they are for.

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