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This deficiency is basically the lack of an enzyme called Alpha 1 Antitrypsin. This is a pulmonary disease that is characterized by symptoms like wheezing, shortness of breath, breathing problems and rales. Also, infections and asthmatic attacks can keep recurring as a symptom of this disease. This condition can also cause liver failure.
HOW IS ALPHA-1-ANTITRYPSIN DIAGNOSED?
""It is diagnosed by conducting the following tests: 1. XRAY/CT imaging by isoelectric focusing. 2. Use of radial immunodiffusion or enzyme linked immuno sorbent assays""
HOW IS ALPHA-1-ANTITRYPSIN TREATED?
Lung affected patients are treated by intravenous infusion of alpha - 1- antitrypsin derived from donated human plasma. This is called augmentation therapy Augmentation therapy is not appropriate for liver affected patients. For such patients liver transplantation may be necessary Treatments also include inhaled forms of Alpha - 1- antitrypsin.
DID YOU KNOW?
It is estimated that 1 person in3,000-5,000 has A1AT deficiency