Antithrombin Deficiency Definition, Reason, Symptoms, Treatment & Prevention

Understanding

Antithrombin deficiency is a condition when the level of antithrombin in the blood is low. Antithrombin is a factor that keeps blood clots in the body from occurring excessively.

If there is a wound, for example, one of the substances that plays a role in closing the wound and forming a blood clot is thrombin. To control the work of thrombin so that it is not excessive, antithrombin is needed. If blood clots are not controlled, thrombosis or blockage of blood vessels can occur, both in small and large blood vessels.

Reason

Antithrombin deficiency occurs as a result of a genetic disorder that is passed down in a family line. Mutations in the SERPINC1 gene are strongly suspected as the specific cause of this disorder.

If there is a history of antithrombin deficiency in the family, the child born has a 50 percent risk of having the same disorder. This risk is the same for both boys and girls.

Apart from genetic disorders, protein S deficiency can occur due to other conditions such as liver and kidney disorders, or the use of the drug L-asparaginase in leukemia. Low antithrombin levels may also occur with heparin therapy, severe burns, and trauma. However, this condition is usually only temporary and will improve if conditions generally improve.

Symptoms

The main symptom of antithrombin deficiency is the presence of thrombosis or excessive blood clotting. These clots generally occur in deep veins, called Deep Vein Thrombosis (DVT) and occur before the age of 40 years.

Signs someone has DVT include:

1. pain in the hands or feet
2. swollen
3. redness or bluishness
4. warm

These blood clots can break off, block the lungs, and be life-threatening. This condition is called a pulmonary embolism. A pulmonary embolism is an emergency that must be treated immediately.

Symptoms felt in pulmonary embolism include:

1. hard to breathe
2. chest pain
3. palpitations
4. faint
5. cough up blood

Blood clots can also occur in the veins in the stomach, in the brain, or in the heart. If not handled properly, stroke and heart attack will become a threat to patients.

Diagnosis

The diagnosis of antithrombin deficiency is based on laboratory tests to evaluate the level and action of this protein. Deficiency occurs when the antithrombin level is below the normal range. In addition to checking antithrombin levels, a diagnosis can also be made using the Genetic Testing Registry (GTR) examination.

Treatment

In antithrombin deficiency accompanied by DVT, the main therapy given is anticoagulants (blood thinners) such as heparin or warfarin. The duration of treatment depends on the severity of the clinical symptoms and the age when first diagnosed. If you want to carry out a therapeutic procedure, it is recommended that the patient get the blood thinner before the operation is carried out.

Complications:

Thrombosis or blood clots in antithrombin deficiency can occur anywhere. If it attacks the brain, then a stroke can be a threat. If it attacks the heart, then the risk of heart attack is even higher. Moreover, both can lead to death.

Prevention

In patients with antithrombin deficiency, prevention of thrombosis can be done by giving blood thinners such as warfarin or heparin before the patient undergoes a surgical procedure or other major surgical procedure.