Alpha-1-antitrypsin deficiency

Alpha-1-antitrypsin deficiency (A-1-AD) is caused by an inadequate amount of the enzyme alpha- 1-antitrypsin in the blood. Affected individuals have 10-20% of normal levels of this serum protein. As a result, they experience early-onset emphysema (blebs and cysts replacing normal lung tis¬ sue), usually in the third or fourth decade. A-l-AD can also cause liver disease in infants and children.


A common hereditary disorder characterized by a deficiency in levels of the blood protein alpha i-anti- trypsin (AAT). AAT is produced in the liver and inhibits the inflammatory response of the body. When AAT is deficient or absent, infection or uncontrolled inflammation can destroy tissue cells, which is seen most often in the lungs, particularly when they are exposed to cigarette smoke. Approximately 75 percent of adults with AAT deficiency who smoke will develop emphysema, a serious respiratory disease, usually before age 40.


Alpha 1-antitrypsin (A1AT) deficiency is a hereditary condition marked by the inadequate synthesis of a crucial protein known as alpha 1-antitrypsin. This protein plays a vital role in safeguarding the flexibility and resilience of pulmonary tissue. Individuals who experience insufficiency in A1AT production face an elevated susceptibility to the development of emphysema, especially if they engage in smoking habits.


 


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