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
