What is Alpha-1?

Alpha-1 Antitrypsin Deficiency (Alpha-1) is a genetic (inherited) condition – it is passed from parents to their children through their genes. Alpha-1 may result in serious lung disease in adults and/or liver disease at any age. People who inherit Alpha-1 do not make a protein called alpha-1 antitrypsin (AAT) in the normal way. AAT is made in the liver and circulates in the blood to protect the lungs from damage. The way people make AAT is determined by genes. People who inherit two abnormal copies of the Alpha-1 gene do not have enough AAT in their blood, which makes lung tissue more prone to damage. Lung disease may occur naturally over time and is worsened by environmental exposures such as smoke and pollution. Sometimes, abnormal AAT accumulates in the liver, which causes liver disease.
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Alpha-1 is an inherited disorder. Alpha-1 is caused by having two abnormal copies of the alpha-1 gene due to inheriting an abnormal copy from both parents. You cannot catch or acquire Alpha-1. Alpha-1 can occur in people who have no known family history of the disease because people with one abnormal alpha-1 gene (called “carriers”) are usually healthy. When a person has two abnormal copies of the gene they do not make alpha-1 protein (AAT) normally. It is important to know that not everyone who inherits Alpha-1 will develop symptoms of the disease, and not everyone will have the same symptoms or severity.

Symptoms of Alpha-1:

Symptoms of Alpha-1 may stem from lung or liver disease. Alpha-1 may first be diagnosed as asthma or smoking-related COPD (chronic obstructive pulmonary disease). Since Alpha-1 is an inherited condition it is important to consider your family history of lung or liver disease as a possible indication of Alpha-1. Symptoms of Alpha-1 can be classified into two categories: symptoms of lung disease and symptoms of liver disease.

The most common symptoms of Alpha-1 lung disease are:
  • Shortness of breath
  • Wheezing or whistling sound while you breathe
  • Coughing with or without mucus production that lasts for a long time
  • Recurring chest colds
  • Asthma that does not respond to standard therapy
  • Decline in physical activity
  • Allergies that last all year
Symptoms of lung disease usually occur in adults over 20 years old. However, symptoms of liver disease can affect both children and adults.

The most common symptoms of Alpha-1 liver disease are:

  • Swollen abdomen
  • Swollen feet or legs
  • Jaundice (yellowing of the skin and the whites of the eyes)
  • Elevated liver enzymes
It is important to understand that Alpha-1 cannot be diagnosed by symptoms or a medical examination alone. In order to diagnose Alpha-1 a blood test must be performed.


There is currently no cure for Alpha-1. Treatment can slow the progression of disease in people who develop lung or liver complications.

Intravenous “augmentation therapy” is the FDA approved treatment for Alpha-1 related lung disease. Augmentation therapy is made of alpha-1 antitrypsin (AAT) protein from the blood of healthy human donors. It is given weekly by intravenous (IV) infusion, which may be done at home or at an infusion center. Augmentation therapy increases the amount of AAT circulating in the blood and lungs. The goal is to slow or stop the progression of lung destruction by replacing the deficient protein. Until other therapies become available, augmentation therapy is considered ongoing and lifelong. Augmentation therapy cannot cure Alpha-1 or restore lost lung function; however, there is evidence that augmentation therapy slows progression of emphysema.

While augmentation therapy is considered the only specific therapy for Alpha-1 lung disease, the treatment for lung-affected individuals with Alpha-1 should also include the appropriate use of other treatments for COPD. Your lung specialist can determine if you are an appropriate candidate for such therapy, which is covered by most insurance plans.

Other Resources:

The Alpha-1 Foundation provides information about Alpha-1 for those who are newly diagnosed, people considering testing, healthcare providers and family members. The Alpha-1 Foundation offers many services, including a free and confidential testing program, a free genetic counseling program, a network of Alpha-1 specialty centers, and many educational opportunities and support groups around the country.

AlphaNet is devoted to improving the lives of individuals with Alpha-1 through comprehensive disease management services, clinical research administration and consultative services. AlphaNet’s Big Fat Reference Guide or BFRG is a comprehensive guide and self-management program available on the Internet for individuals living with Alpha-1.