Patients with Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin (AAT) deficiency is a genetic disorder that leads to decreased circulating levels of AAT, which significantly increases the risk of serious lung and liver disease. Although previously considered to be limited to people of northern European ancestry, it is now known that people all over the world are affected. Over 100 abnormal alleles have been identified — the most common disease-producing of these being ‘S’ and ‘Z’. AAT deficiency is often beneath the diagnostic radar; consequently, it is typically unrecognized until the appearance of advanced lung or liver disease. It is important to detect AAT deficiency prior to the development of severe lung disease, since early augmentation therapy may limit the decline in function. Patients should be guided to immediately discontinue smoking and avoid smoke-filled environments, to keep away from other lung irritants, improve nutritional practices, participate in daily exercise, use preventive medical practices to limit disease, and become knowledgeable about the disease process and signs and symptoms of exacerbations. An aggressive disease management process should be initiated and continually refined for the individual patient. Disease management is a collaborative arrangement between patient and physician. The self-management component is a set of skills and routines to enable the patient to maximize disease control at home and recognize the earliest signs and symptoms of an exacerbation. A daily exercise program such as walking is essential on many levels. With continued research and ongoing clinical trials, patients with AAT deficiency will be provided with improved alternatives for managing their disease and perhaps an eventual cure. For the time being, aggressive preventive and disease management practices offer the best solution.