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Alpha-1 Antitrypsin Deficiency (Alpha-1)What is Alpha-1 Antitrypsin Deficiency? Alpha-1 Antitrypsin (AAT) Deficiency is a genetic disorder characterized by the production of an abnormal AAT protein. The liver cells cannot secrete the abnormal AAT protein, which accumulates within the cells and results in marked reductions of circulating AAT levels. Although the mechanisms are not completely known, it is believed that the retained abnormal AAT protein over time leads to liver injury in some affected persons. In the lungs, low-levels of AAT allow for the destructive effects of neutrophil elastase to go unchecked, which results in damage to the delicate gas exchange region of the lungs ( alveoli ), eventually leading to emphysema as young as 30 years of age. Thus, persons with AAT Deficiency are at high risk of developing life-threatening liver and lung disease. Contact Registry for Alpha-1 | Find a Trial | Alpha-1 Advocacy Groups | A Healthcare Provider's Guide for Alpha-1 | Back to RLDC Disease Main Menu |
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