ABSTRACT

Alfa-1 antitrypsin (AAT) deficiency is a genetic disorder characterized by a decreased serum concentration of AAT. AAT inhibits elastase which is the proteolytic enzyme produced by neutrophiles. When a disequilibrium between endogenous protease and antiprotease such as AAT occurs, it can generate pathologies that affect the pulmonary and extra-pulmonary structure and function. It´s importance lies in that it causes 50% of the cases of chronic obstructive pulmonary disease (COPD) in patients younger than 45 years old. These cases are caused by the inability of the antiprotease to destroy the neutrophilic elastase. One of the fundamental aspects in these patient’s treatment is the opportune diagnosis of this disease and the prevention of risk factors that promote the progress of pulmonary function deterioration. This is a review article that analyses not only the most important clinical points of this deficiency, but also offers a synthesis of the most important points in its epidemiology, physiopathology and treatment advances.

KEYWORDS

Alfa-1 antitrypsin, protease, antiprotease, chronic obstructive pulmonary disease (COPD), emphysema, elastase.

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