Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic condition, passed on from parents to their children. This condition can result in serious lung and liver disease throughout life.
Alpha-1 antitrypsin is a protein that is produced in the liver. Its primary function is to protect the lungs from neutrophil elastase, an enzyme that digests damaged or aging cells and bacteria to promote healing in the lungs. However, if left unchecked, it will also attack healthy lung tissue. Alpha-1 antitrypsin traps and destroys neutrophil elastase before it has a chance to damage the lung tissue. If a person doesn't have sufficient alpha-1 antitrypsin, the enzyme goes unchecked and attacks the lung.
Most people have two copies of the alpha-1 gene that make the protein. Some people may have one normal copy and one damaged copy of the gene; they are considered Alpha-1 Carriers. Individuals with two damaged copies of the gene have the severe deficiency of the alpha-1 protein and are considered to have "Alpha-1." They are referred to as "Alphas".
Alpha-1 Carriers with only one abnormal gene can produce enough protein to stay healthy, especially if they don’t smoke. However, people with two damaged copies of the gene can't produce enough alpha-1 antitrypsin. They are often diagnosed with emphysema as their primary disease. Other common diagnoses include COPD (chronic obstructive pulmonary disease), asthma, chronic bronchitis, and bronchiectasis. Alphas are also usually more susceptible to lung infections. In the Alpha-1 patient, any of these conditions can cause further damage if they aren't treated right away.
Another disease that some Alpha patients develop is cirrhosis of the liver. This scarring of healthy liver tissue affects Alpha-1 infants, as well as 12% to 15% of adult Alphas. Unfortunately, there is no cure for cirrhosis of the liver, regardless of its cause. Cirrhosis can be managed as a chronic condition if caught early and protective steps are taken. Still, a liver transplant is currently the only option available for advanced disease.
Alphas and physicians regularly speak of a patient's "primary disease." This means the principal way the deficiency is manifested in a given patient, whether in the lungs, the liver, or the skin. As a genetic abnormality, there is currently no cure for alpha 1. Living a healthy lifestyle can prevent or at least postpone many of the problems associated. Eventually however, many alphas have to undergo oxygen therapy or other therapies or procedures to remain healthy.