What Is Alpha-1?

DNA-strandAlpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic condition that is passed on by parents to their children through their genes and can cause serious liver disease in children and liver and/or lung disease in adults.


Alpha-1 antitrypsin is a protein that is produced mostly in the liver. Its primary function is to protect the lungs from neutrophil elastase. Neutrophil elastase is an enzyme that normally serves a useful purpose in lung tissue-it digests damaged or aging cells and bacteria to promote healing. However, if left unchecked, it will also attack healthy lung tissue. Alpha-1 antitrypsin, in sufficient amounts, will trap and destroy neutrophil elastase before it has a chance to begin damaging the delicate lung tissue. Consequently, if an individual doesn't have enough alpha-1 antitrypsin, the enzyme goes unchecked and attacks the lung.


Symptoms of Alpha-1

 Family history of lung disease or liver disease symptoms:

  • Shortness of breath
  • Wheezing or non-responsive asthma
  • Coughing with or without sputum (phlegm) production
  • Recurring respiratory infections
  • Rapid deterioration of lung function
  • Unexplained liver problems and /or elevated liver enzymes


Facts about Alpha-1

  •  It is estimated that Alpha-1 affects 1 out every 2,500 people in the US. 
  • It takes an average of three doctors and seven years from the time lung symptoms first appear before proper diagnosis is made.
  • More than 12 million people have been diagnosed with COPD in the United States, and about 3 percent of them are predicted to have Alpha-1. (Another 12 million people with COPD don’t even know they have it, according to the National Heart, Lung & Blood Institute)
  • An estimated 19 million people in the United States are undetected carriers of an abnormal copy of the gene that causes Alpha-1, and may pass the copy of the gene on to their children.


Most people have two normal copies of the alpha-1 antitrypsin 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 antitrypsin protein and considered to have "Alpha-1" and are referred to as "Alphas."


Alpha-1 Carriers with only one abnormal copy of the gene can produce enough protein to stay healthy, especially if they do not smoke.  However, people with two damaged copies of the gene can't produce enough alpha-1 antitrypsin, which can cause several conditions. 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 usually quite susceptible to lung infections. In the patient with Alpha-1, any of these conditions can cause further damage if they aren't treated right away.


Another disease that some patients with Alpha-1 develop is cirrhosis of the liver. This scarring of healthy liver tissue affects infants with Alpha-1, 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.


Rarely, Alphas may also have a disease known as panniculitis. Panniculitis is an inflammation in the fatty tissue under the skin. It can occur in both children and adults.


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.