Hereditary antithrombin III deficiency

What Is Hereditary Antithrombin III Deficiency?

Hereditary Antithrombin III Deficiency (HAII) is a genetic disorder that results in low levels of antithrombin III in the blood. Antithrombin III, or AT III, is a protein the body needs to help stop clotting. Without enough AT III, clots can form more easily, leading to serious problems such as deep vein thrombosis (DVT) and pulmonary embolism (PE).

What Causes Hereditary Antithrombin III Deficiency?

HAII is caused by a mutation or change in the ANT3 gene. People with this gene change cannot produce enough AT III, leading to clotting problems. The most common form of HAII is acquired through inheritance and is passed down from parents to children through their genes.

Symptoms of Hereditary Antithrombin III Deficiency

The most common symptom of HAII is the formation of clots in the veins or arteries. This can lead to complications such as DVT, PE, stroke, or heart attack. The symptoms of DVT include pain or swelling in the leg, tenderness or redness of the skin, and shortness of breath. Symptoms of PE may include chest pain, shortness of breath, sweating, rapid heartbeat, and coughing up blood.

Diagnosis and Treatment

HAII is diagnosed through a blood test. If the test results are positive for AT III deficiency, additional testing may be necessary to confirm the diagnosis. Treatment for HAII consists of medications such as anticoagulants or antifibrinolytics to reduce the risk of clotting. People with HAII may also need to adapt their lifestyle to reduce the risk of clotting, such as limiting alcohol intake, avoiding long periods of inactivity, and quitting smoking.

Complications of Hereditary Antithrombin III Deficiency

The complications associated with HAII can be serious and even life-threatening. Some of the common complications include:

  • DVT
  • PE
  • Heart attack
  • Stroke
  • Organ damage
  • Death

Because these complications can be potentially life-threatening, it is important to seek treatment as soon as possible.