Alpha-1 antitrypsin deficiency, associated diseases and their treatments: a review

rauf- ur- rehman


Alpha 1 antitrypsin is produced in the liver and one of its most important function is to protect the lungs from the neutrophils elastase level enzymes, normal level of AAT in the blood is 1.5-3.5gm/ml,when the AAT is up to 60% the lungs function normally but when it drops below 15% patients are likely to develop Emphysema and liver cirrhosis. Alpha 1-antitrypsin deficiency is heterogeneous genetic disorder due to mutation of chromosome no 14q32.1 (SERPINA1) that leads to the protease           anti-protease    imbalance.

Alveolar And hepatocyte damage were observed causes which is due to the deficiency of Alpha 1-antitrypsin. Disease effects every system of body like respiratory, hepatic and biliary. The aim of study is to evaluate various diseases associated with AATD .Data collected from internet using,, most common associated diseases with alpha 1 antitrypsin deficiency are emphyesema,asthma ,liver cirrhosis and hepatitis depending the deficiency level of AAT.The best treatment is considered to the adminstration of anticholinergics and ipratropium bromide improves the lung function ,However use of bronchodilators improves asthmatic attack also vaccination is carried to prevent the Hepatitis and liver cirrhosis


Antitrypsin, Alleles, SERPINA, Hepatic, Respiratory

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