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Congenital Antithrombin Iii Deficiency

Overview

Congenital antithrombin III deficiency is the condition indicating the genetically defective system of clot formation of blood due to deficiency of antithrombin III in the blood of the patient. Due to abnormal clotting of blood the organs start getting damaged, as the clots create blockage in the organs and prevent the smooth flow of blood to the organs.


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Causes

Congenital antithrombin III deficiency is mainly due to the inheritance of the defective genes in the blood of the patient. This defective gene is passed on from the genes of the affect parent. The presence of this defective gene may lead to production of low levels of antithrombin III in the blood of the patient. The deficiency of the antithrombin III factor is also due to less production of certain enzymes that may directly affect the production of antithrombin III in the blood of the patient. Liver disease, intake of certain medicines, such as L-asparaginase, etc, may also lead to this disease. 


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Signs & Symptoms

The patient suffering from congenital antithrombin III deficiency has the following symptoms:-

  • The patient suffers from disseminated intravascular coagulation (DIC).
  • The patient may also suffer from microangiopathic hemolytic anemias.
  • This type of anemias may occur due to endothelial damage.
  • Venoocclusive disease is seen in patients undergoing bone marrow transplantation therapy.
  • The patient is often seen to cough up blood.
  • Some of the patients may have the tendency to faint.
  • There is shortness of breath, teamed up with pain in the chest while the patient breathes.
  • One of the legs may get swelled up.
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Prevention

There is no preventive method for this disease. Genetical screening may be done prior to the birth of the baby to check out the presence of this disease at an early stage.


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Treatments
Anticoagulants Modern Medicine

The anticoagulants are administered to remove the blood clot in the patient. The time duration of taking these medications may totally depend upon the severity of the cases.

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