What is Alpha-1 Antitrypsin (AAT) Protein?

Alpha-1 -a blood protein -protects the body tissues from enzymes that our body releases in response to certain infections or inflamation. Alpha-1 is produced in the liver, and is then released into the blood steam.

What Causes Alpha-1 Antitrypsin (AAT Protein) Deficiency?

Alpha-1 antitrypsin deficiency is caused by a genetic defect. Because of a gene mutation, instead of the normal AAT protein cells, sometimes abnormal forms of AAT protein called the Z variant (Protease inhibitor Z -PiZ), or PiS is produced. When these mutated protein cells get stuck in the liver, the concentration of AAT protein in the blood stream drops, leading to AAT Deficiency.

PiZ is one of the most common cause of Alpha-1 Antitrypsin Deficiency. Another variant called PiS also causes AAT deficiency, but it is relatively less severe.

When Alpha-1 protein cells are not available in sufficient quantities, the enzymes released as a result of an infection or inflammation can destroy (digest) tissue cells. Alpha-1 Antitrypsin (AAT) protein deficiency often causes tissue damage in lungs, leading to serious lung damage. AAT deficiency (a genetic form of emphysema) is frequently misdiagnosed as Chronic Asthma or COPD. Damage to the liver occurs from the excessive build-up of mutated (PiZ & PiS) AAT cells.

Alpha-1 Antitrypsin Deficiency Symptoms:

In addition to the symptoms that are commonly present in emphysema and/or cirrhosis, Alpha-1 antitrypsin deficiency (AAT Protein Deficiency) symptoms may include also the following:

• Shortness of breath,
• A feeling of breathlessness following/during mild exertion,
• Fatigue,
• Headache,
• Tachycardia,
• Unexplained weightloss,
• Nonresponsive asthma,
• Chronic allergies,
• Elevated liver enzymes,
• Recurring respiratory infections,
• Wheezing, and
• Upper respiratory tract infections.

Alpha-1 Antitrypsin Deficiency Diagnosis:

A simple blood test is often enough to conclusively diagnose AAT Deficiency. Additionally, the following tests may be indicated:

• Pulmonary function test,
• Chest Radiographs, and
• Chest CT scans.

Treatment for Alpha-1 Antitrypsin Deficiency:

Treatment for AAT Deficiency usually includes the following:

• Alpha-1 Antitrypsin Protein Replacement/Augmentation Therapy involving intravenous replacement of human Alpha-1 protein derived from human blood, i.e. Prolastin.
• Smoking Cessation,
• Bronchodilators,
• Antibiotics for combating any upper respiratory tract infections,
• Liver transplant, and
• Gene therapy

  Involves delivery of the normal Alpha-1 gene to body tissue using a non-infectious carrier virus.

Alpha-1 Antitrypsin Deficiency (AAT Deficiency) Prognosis:

Alpha-1 Antitrypsin Deficiency is a progressive disease. In some cases, it could be fatal. Some people (not all) with AAT protein deficiency may develop Emphysema and/or Cirrhosis.

Don't forget to check out Lung Disease News section of this website for the latest Alpha-1 Antitrypsin Deficiency Treatment News, and our Lung Disease Articles for the latest Alpha-1 Antitrypsin Deficiency (A1AD) Articles.

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