Alpha-1-Antitrypsin Deficiency Initially Presenting in an Adult Surgical Patient: A Case Report and Review of Current Understanding of Disease Process

Abstract

Alpha-1-antitrypsin (AAT) is one of several serpin molecules which functions to balance the action of various endogenous proteolytic enzymes. A deficiency of functional levels of this enzyme is most commonly inherited in an autosomal recessive fashion. Greater than 95% of AAT-deficient persons are homozygous for the non-functional Z-variant of the enzyme. ZZhomozygosity is relatively common, affecting 1 in 2500 persons of northern European decent. Known complications of AATdeficiency include early-onset emphysema, childhood liver disease, cirrhosis, and increased incidence of hepatocellular carcinoma. Although AAT-deficiency is frequently diagnosed in early childhood, it is not uncommon for persons to go undiagnosed for many years until otherwise unexplained lung or liver disease become evident. We report a case of AATdeficiency in a 44-year-old female which became evident post-operatively after unexplained, uncontrollable ascites and respiratory failure.