Lung Condition: Alpha-1 Antitrypsin Deficiency

Alpha-1 antitrypsin (AAT) is a protein created in the liver which travels to your bloodstream. This protein protects your lungs and other organs from harmful irritants and infections. AAT deficiency, also referred to as Alpha-1, is a rare genetic condition that causes people to have low levels of AAT in their bloodstream.

This disorder can increase your chances of developing lung and liver diseases such as emphysema and cirrhosis. This is because the low AAT levels mean that the lungs are not protected, and the liver becomes damaged because the protein builds up in that area.

Alpha-1 antitrypsin deficiency occurs due to mutations in the gene that produces the AAT protein, and there are multiple ways this mutation can present. The most common mutation is known as the ZZ type, which is where the AAT proteins are misshapen. This creates difficulties for the protein to pass from the liver into the bloodstream, which causes the level of AAT in the bloodstream to decrease while the level of the protein in the liver is increased.

Some people with Alpha-1 might never realize that they have this genetic disorder because symptoms do not always occur, and this condition may not always lead to related diseases. People who do develop symptoms will usually experience them when they are in the age range of 20 to 50.

When Alpha-1 leads to the development of lung diseases, you may experience symptoms that are similar to those caused by chronic obstructive pulmonary disease (COPD). COPD is a group of lung conditions with symptoms such as allergies, fatigue, frequent chest colds, shortness of breath, unexplained weight loss, and wheezing.

Some people with Alpha-1 develop liver disease, and in these cases, they may display symptoms including jaundice, easy bruising, vomiting blood, and swelling in the abdomen or legs from fluid buildup. They may also have a higher risk of infections due to their liver not functioning properly.

Complications of Alpha-1 depend on what disease it causes, and these complications can affect various parts of the body. If you develop lung disease due to AAT deficiency, complications that occur may include developing emphysema or bronchiectasis, which is damage to the walls of the airways of your lungs.

If Alpha-1 causes liver disease, you may be at higher risk of infection, experience swelling of your abdomen and legs, or develop liver scarring (cirrhosis) or cancer. In rare cases, some people with Alpha-1 develop a skin disease known as panniculitis. This condition can cause painful red lumps in the skin, which may break open and discharge liquid or pus.

Unfortunately, since Alpha-1 is an inherited disorder, there isn’t anything you can do to prevent this deficiency. However, there are steps you can take to try and prevent the development of other diseases that Alpha-1 can lead to. You can reduce your risk of developing emphysema by avoiding tobacco and nicotine products such as cigarettes and vapes. In jobs that create high exposure to lung irritants such as dust, chemicals, or exhaust fumes, it may help to wear a face mask to avoid contact with these harmful airborne particles.

In many cases of people who have Alpha-1, doctors will first diagnose them with asthma due to the similarity in symptoms. If you don’t respond to asthma treatment, your doctor may conduct several tests to determine if you actually have Alpha-1. These tests can include blood tests, imaging tests such as chest X-rays and CT scans, or genetic tests to see if you have any abnormal genes that are associated with Alpha-1.

Treatment for Alpha-1 depends on the type of disease this condition causes. Treatment options may include augmentation therapy for treatment of emphysema, where doctors increase your AAT levels with donated AAT in the form of monthly or weekly infusions. Other treatments can include a lung transplant, medications such as steroids or bronchodilators, oxygen therapy, or pulmonary rehabilitation. These treatments improve lung function to provide you with a better quality of life.

At Gwinnett Pulmonary and Sleep, we offer services to help determine if you are dealing with lung conditions caused by Alpha-1 such as emphysema or COPD, and treatment to help if you are. These services include pulse oximetry and pulmonary function tests, such as spirometry, lung volume, and diffusion capacity; as well as pulmonary rehabilitation.

If you suspect that you may have Alpha-1, it’s important to get tested as soon as possible so that you can begin receiving treatment. Learn more about our services here, or schedule an appointment to talk to our doctors.