Select Page

Information from

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.

For each trait a person inherits, there are usually two genes; one gene comes from each parent. People with Alpha-1 have received two abnormal alpha-1 antitrypsin genes. One of these abnormal genes came from their mother and one from their father.

The Abnormal Alpha-1 Genes

There are many types of abnormal alpha-1 antitrypsin genes. The most common abnormal genes are called S and Z. Normal genes are called M. A person who does not have Alpha-1 will have two M genes (MM).

People identified with Alpha-1 most commonly have two Z genes (ZZ). Current evidence suggests that there are at least 100,000 people with Alpha-1 (ZZ) in the United States. Another deficient gene combination is SZ, although people with this gene combination are less likely to get lung or liver problems than those with two Z genes.

Alpha-1 occurs when there is a lack of a protein in the blood called alpha-1 antitrypsin, or AAT. AAT, the alpha-1 protein, is mainly produced by the liver. The main function of AAT is to protect the lungs from inflammation caused by infection and inhaled irritants such as tobacco smoke.

The low level of AAT in the blood occurs because the AAT is abnormal and cannot be released from the liver at the normal rate. This leads to a build-up of abnor

The most common signs and symptoms of disease caused by Alpha-1

Symptoms related to the lung:

  • Shortness of breath
  • Wheezing
  • Chronic bronchitis, which is cough and sputum (phlegm) production that lasts for a long time
  • Recurring chest colds
  • Less exercise tolerance
  • Year-round allergies
  • Bronchiectasis

Symptoms related to the liver:

  • Unexplained liver disease or elevated liver enzymes
  • Eyes and skin turning yellow (jaundice)
  • Swelling of the abdomen (ascites) or legs
  • Vomiting blood (from enlarged veins in the esophagus or stomach)
Who gets Alpha-1 lung and/or liver disease?
  • Alpha-1 has been identified in nearly all populations and ethnic groups. It is estimated that about 1 in every 2,500 Americans have Alpha-1.
  • People with Alpha-1 may remain healthy throughout their lives. Early diagnosis and avoiding risk factors, such as cigarette smoking, can help prevent Alpha-1 from causing disease.
  • An estimated 19 million people in the United States have one normal and one defective alpha-1 gene. People with one normal gene and one defective gene (for example MZ) are called “carriers”. Carriers may pass the defective gene on to their children.
  • Alpha-1 can lead to lung destruction and is often first diagnosed as asthma or smoking-related Chronic Obstructive Pulmonary Disease (COPD).

Alpha-1 cannot be diagnosed by symptoms or by a medical examination alone; you need to get a simple, reliable blood test to know for sure.

  • Alpha-1 is the most common known genetic risk factor for emphysema.
  • Up to 3% of all people diagnosed with COPD may have undetected Alpha-1.
  • Alpha-1 can also lead to liver disease. The most serious liver diseases are cirrhosis and liver cancer.
  • The World Health Organization (WHO), American Thoracic Society (ATS), and the European Respiratory Society (ERS) recommend that everyone with COPD be tested for Alpha-1.

Treatment for Alpha-1 lung disease

There is no cure for Alpha-1 lung disease, but treatments are available.

Alphas with lung diseases such as asthma, COPD or bronchiectasis can be helped by the same drugs that are used by non-Alphas for these conditions.

These include drugs to open up the lung passages (bronchodilators) and reduce the chronic inflammation that is common in the lungs of Alphas (corticosteroids).

Since infections in the lung can bring millions of extra white blood cells into the lungs, many doctors who care for Alphas recommend that lung infections be treated early and aggressively with antibiotics. One sign of a lung infection is when the Alpha starts to cough up mucus or phlegm that is yellow or green in color.


Augmentation Therapy for Alpha 1 Lung Disease

Besides the usual treatments for COPD in general, there is a specific therapy available to Alphas with lung disease.

Augmentation therapy consists of intravenous infusions, usually weekly, of alpha-1 antitrypsin protein purified from healthy plasma donors. The goal is to increase the level of alpha-1 protein in the blood and lungs in order to slow or stop the progression of Alpha-1 lung disease.

Augmentation therapy has been shown to increase blood and lung levels of alpha-1 antitrypsin protein, reduce the rate of decline of lung function, and improve survival.

Augmentation therapy cannot restore lost lung function and is not considered a cure. However, this therapy is currently the standard of care for Alphas with COPD.

Augmentation therapy is also recommended for the Alpha-1 related skin disease Necrotizing Panniculitis.

Augmentation therapy is not a treatment for Alpha-1 liver disease.

Safety of Augmentation Therapy

Augmentation therapy is prepared from pooled human blood plasma that has been screened for hepatitis A, B, and C and tested for HIV as well as other infectious viruses. Additional antiviral procedures are used by all manufacturers during the purification process. While any product derived from blood can have side effects, augmentation therapy has been in use for more than 25 years with an excellent safety record.

Of the side effects that have been reported, headaches, muscle and joint pain, and temporary flu-like symptoms are the most frequent complaints. Alphas with edema or heart failure may have worsening of their shortness of breath.

Pin It on Pinterest