What is Alpha 1 Antitrypsin Deficiency?

Alpha-1 antitrypsin deficiency is a genetic condition that raises the risk for lung and liver disease. Alpha-1 antitrypsin or AAT is a protein that forms in the liver and moves through the bloodstream to the lungs.  AAT helps protect the lungs from inflammation and irritating substances that are breathed in, such as smoke, pollution, or dust from the environment.

AAT serves as an “off switch” for neutrophil elastase, an enzyme that helps to fight infections but can also cause inflammation and damage healthy lung tissue. After elastase has had time to help fight an infection, AAT shuts it off, so it won’t damage the lungs. If there is insufficient A1 antitrypsin in the lungs, neutrophil elastase will start to break down elastin.  Elastin gives strength to the small air sacs of the lungs and allows them to stretch and contract. Without it, those air sacs lose their shape and become floppy. When this happens, it becomes difficult to breathe and get oxygen properly. This condition damages the lung tissue and causes emphysema, a type of chronic obstructive pulmonary disease (COPD).  A blood test can measure a person's level of AAT but knowing when to take it means recognizing the symptoms and risk factors of AAT deficiency.

What are the complications of A1 Antitrypsin Deficiency?

In addition to lung disease, alpha-1 antitrypsin deficiency can also cause liver disease, such as cirrhosis and liver cancer.  This can occur because of the accumulation of abnormal AAT in the liver cells. The gene mutations that change the shape of AAT keep it from moving out of your liver. When AAT can’t get out of the liver, it is unable to move to the bloodstream and lungs and the buildup can cause issues.

What causes Alpha-1 Antitrypsin deficiency?

Genes determine a person’s hereditary traits, and they are passed from generation to generation. Alpha-1 antitrypsin deficiency means that both copies of the SERPINA1 gene, which provides instructions for making AAT, are mutated. These gene changes can cause the body to have low levels of AAT or no AAT in the lungs, and depending on the changes, a buildup of AAT in your liver. Any of those changes can cause health issues. Individuals with one mutated copy of the gene are called carriers of the AAT deficiency trait. They usually do not have symptoms, but they can pass the mutation to their children. Individuals with two mutated copies of the gene have a condition called AAT deficiency. If both parents are carriers, each child has a 25% chance of inheriting two mutated copies of the gene and having the condition. About 10% of infants and 15% of adults with antitrypsin deficiency will develop liver disease. People with this disorder have a higher risk of getting lung disease or liver damage before the age of 45.

Who is at risk for A1 Antitrypsin Deficiency?

Alpha-1 antitrypsin deficiency is rare in people of non-European descent however, it is one of the most common genetic disorders among those with European ancestry.  In the United States, 1 in 25 people of European descent have at least one abnormal copy of the gene for Alpha-1 and 1 in 3,500 people have both of their genes abnormal. This puts that group of people at risk for severe organ damage. Approximately 75% of people with two malfunctioning genes will eventually develop issues with their lung or liver function.

What are the symptoms of Antitrypsin Deficiency?

The severity and age of the onset of alpha-1 antitrypsin deficiency can vary among individuals. Some people may not have any symptoms until later in life, while others may develop lung or liver problems in childhood or early adulthood. Lung symptoms usually start between the ages of 25 and 50. The most common symptoms of lung disease are shortness of breath, wheezing, chronic coughing, frequent chest colds, and extreme tiredness.  The most common symptoms of liver disease are jaundice, swelling of the legs or abdomen, itchy skin, and bleeding problems. In rare instances, the first symptoms of Alpha-1 are painful, red bumps on your skin (panniculitis). These can move around on your body and may break open, leaking fluid or pus.

The best way to prevent or reduce the risk of lung damage from alpha-1 antitrypsin deficiency is to avoid smoking and exposure to tobacco smoke and other lung irritants, such as dust, chemicals, and air pollution. People with the condition should also get regular check-ups and vaccinations to prevent respiratory infections. Early diagnosis and treatment can improve the quality of life and life expectancy of people with alpha-1 antitrypsin deficiency.  Fortunately, there are blood tests that can aid in diagnosis.

Is there a test for Alpha-1 Antitrypsin Deficiency? 

When someone is experiencing symptoms of COPD, a blood test for Alpha-1 antitrypsin can measure the level of AAT in the blood.  This can provide useful information to help determine if AAT deficiency is the cause of the symptoms or to rule it out.  Because AAT is inherited, testing is recommended for those with a family history of lung or liver disease.  In some cases, testing such as the hepatic function (liver function) test is also recommended.  Additional tests including genetic testing may be necessary if an AAT blood test shows abnormal levels.

Where can I get a test for A-1 Antitrypsin Deficiency?

Request A Test offers hundreds of lab tests including the AAT blood test at over 4,000 testing locations across the United States.  Our direct-to-consumer testing service makes it easy for anyone to take charge of their health and order the testing they need.  There's no need to schedule a doctor's appointment or get approval from insurance.  Just order the test and go to the lab.  Your results are private and confidential.  Our team is ready to help you place an order or assist you in picking the tests that best suit your needs.  To get started, just order online at www.requestatest.com or call 888-732-2348.