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Alpha-1 antitrypsin deficiency is a rare inherited disorder characterized by the deficiency, reduced levels, or deficient transport of the Alpha-1 antitrypsin enzyme(AAT). It is a protein made by the liver and protects the lungs from the detrimental effects of irritants and infectious agents. The absence of this protective protein predisposes a person to develop lung disease manifested by the symptoms of shortness of breath, wheezing, cough, etc. The liver also gets affected by the build-up of proteins which may cause jaundice and scarring of the liver.
It is diagnosed by measuring the levels of AAT protein in the blood. Treatment for lung disease involves cessation of smoking, vaccinations against common lung infections, bronchodilators, intravenous alpha1-antitrypsin, supplemental oxygen if needed, and physical rehabilitation programs.