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Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder that may result in lung disease or liver disease. As highlighted in this case study, AATD may be underdiagnosed due to lack of continuity of care. Affected patients should be educated on the importance of prevention and follow-up care.
Alpha-1 antitrypsin (AAT) is a glycoprotein produced by hepatocytes in the liver and phagocytes (Kessenich & Bacher, 2014). In lung epithelial cells, these glycoproteins are produced in smaller amounts. AAT protects body tissues from the damaging effects of powerful proteolytic enzymes such as neutrophil elastase. Neutrophil elastase is secreted by white blood cells and protects the delicate alveolar tissue by neutralizing tiny inhaled particles and killing bacteria that may occur with inflammation (Alpha-1 Foundation, 2019a).
If unregulated, neutrophil elastase is considered one of the most destructive enzymes of the body. AAT helps to regulate neutrophil elastase by inactivating it. If a person has limited amounts of circulating AAT, unchecked elastase destroys the delicate walls of alveoli where gas exchange occurs within the lungs. This damage usually progresses to emphysema (Lascano & Campos, 2017) in AAT-deficient patients as young as age 30 (Alpha1 1 2019a).
The genetic disorder alpha-1 antitrypsin deficiency (AATD) primarily affects Caucasians, especially patients with Scandinavian, British, Spanish, and Portuguese genetic backgrounds; it affects women and men equally (Perlmutter, 2016). AATD is caused when at least one parent passes a genetic abnormality to a child (American Lung Association, 2018). Individuals with this condition have abnormal production of AAT, which causes the protein to be misfolded. Because it cannot be secreted from the liver, AAT accumulates there (Perlmutter, 2016). The result is a decrease in circulating AAT in the blood. Unfortunately, accumulation of the abnormal AAT protein often leads to liver damage in individuals with this condition (Alpha-1 Foundation, 2019a).
AATD commonly presents with nonspecific symptoms resulting in dyspnea, cough, wheezing, bronchitis, and liver disease of unknown origin. Often patients present with chronic obstructive pulmonary disease (COPD), bronchiectasis, neonatal jaundice, hepatocellular carcinoma, unexplained liver disease, vasculitis, and necrotizing panniculitis. However, other individuals may be asymptomatic and continue to live ordinary lives (Kessenich & Bacher, 2014).
AATD is viewed commonly as a condition in which emphysema is diagnosed in nonsmoking individuals. However, this notion is false because...