Alpha-1 Lung Disease

What Is Alpha-1 Antitrypsin Deficiency?

Alpha-1 Antitrypsin Deficiency (often called “Alpha-1”) is a genetic condition. This condition leads to low or undetectable levels of the alpha-1 antitrypsin (AAT) protein, which helps protect the lungs from inflammation. Alpha-1 can result in severe lung disease in adults, as well as liver disease in children and adults. It is a progressive disease that is commonly inherited.

Between 1% and 3% of people with chronic obstructive pulmonary disease (COPD) in the United States also have Alpha-1. And, about 1 in every 3,500 people has severe Alpha-1. The majority of people who have Alpha-1 are of Northern European decent, especially Scandinavians, but it has been found in all ethnic groups.

Signs and Symptoms

Symptoms of alpha-1 lung disease can include:

• Regular shortness of breath by age 40 or 50, earlier in smokers
• Chronic cough
• Sputum (or phlegm) production
• Emphysema, especially in the lower lung
• Bronchiectasis
• Disruption of normal lung structure

Diagnosis

Alpha-1 is a hereditary condition passed from parents to their children through genes. Testing for Alpha-1 typically done through a simple blood test. Depending on other health risks, imaging tests may be performed to evaluate the severity of the condition and the best treatment options.

Genetic Tests

In people with Alpha-1 lung disease, the blood level of alpha-1 antitrypsin will often be very low, less than 20 percent of the normal level. The phenotype, or Pi-type (a name for the structure of the protein made by the Alpha-1 gene) of the alpha-1 antitrypsin protein in a person is determined by identifying how the protein moves on an electrified gel.

A normal protein is referred to as an M protein. A person with normal alpha-1 antitrypsin proteins is referred to as Pi MM. Testing the Alpha-1 DNA, a process called genotyping, also can indicate if there are mutations that make a person more likely to develop Alpha-1.

The most common abnormal proteins are S, Z and F. Sometimes a gene will make no protein; this a “null” gene. When you have two Z genes, you are known as Pi ZZ and are most likely to get Alpha-1 lung and/or liver disease.

Imaging Tests

Chest X-rays and computed tomography (CT) scans can be used to look at the structure of the lungs.

Chest X-ray: A chest x-ray may reveal that the lungs are hyperinflated.

Chest CT: A chest CT can show a pattern of emphysema symptoms specific to Alpha-1. When the normal small air sacs (alveoli) of the lungs break down and consolidate, they look like large holes in the lung, like the holes in Swiss cheese.

In those who smoke but don’t have Alpha-1, emphysema will occur more frequently in the upper part of the lung. In those with emphysema resulting from Alpha-1, the lower parts of the lung are most commonly affected.

Treatment

People with Alpha-1 may live long, healthy lives without ever having lung or liver problems from Alpha-1. For those who develop emphysema, bronchiectasis or COPD, treatment starts with the same medications and therapies used for those who get COPD without Alpha-1. 

Medications

Inhaled bronchodilators: Bronchodilators help open the airways in the lungs by relaxing smooth muscle around the airways. Bronchodilator medication can be short or long acting. There are different types of short or long acting bronchodilators that work in different ways.

Combination medications: Combination therapies use two long-acting medications in a single inhaler to help reduce symptom flare ups. They may also contain a steroid to further reduce airway swelling.

Inhaled corticosteroids: Steroids are very effective at reducing swelling and mucus production in the airways. They also help other quick-relief medication work better.

Augmentation therapy: A class of medicine called augmentation therapy has been available to treat Alpha-1 lung disease since 1987. This medication augments the alpha-1 antitrypsin protein in the blood with normal alpha-1 antitrypsin from healthy plasma donors and is infused into an arm vein. The dose is adjusted based on body weight, and this treatment is given once a week. This therapy does not help people with liver disease due to Alpha-1. There are currently four brands of augmentation therapy approved in the U.S. They include:

• Prolastin®
• AralastTM
• Zemaira®
• Glassia®

Therapies

Oxygen therapy: Oxygen therapy supplies the body with additional oxygen to help ensure it meets its needs if their normal oxygen saturation in the blood is too low. It is recommended for people with oxygen saturation levels below 89%

Techniques to bring up mucus: Patients with decreased lung function may benefit from specific techniques to help effectively bring up mucus, which can be demonstrated by your doctor. This can help keep the airways more open and make breathing easier.

Pulmonary rehabilitation: In some cases, pulmonary rehabilitation can help improve lung function that has been reduced by alpha-1 lung disease. Pulmonary rehabilitation is a program for people with chronic lung diseases that helps you be as active as possible by improving quality of life. Pulmonary rehab involves exercise, breathing exercises, education, and other support to help improve your lung function over time.

Procedures

Surgical procedures can be a treatment option for Alpha-1 lung disease, depending on the type and severity of disease. This could include:

Lung transplant: In cases where lungs are severely damaged, getting a healthy lung through transplant can help improve quality of life.

Lung volume reduction surgery (LVRS): This surgical procedure can help some people with Alpha-1 lung disease, although not all people with Alpha-1 lung disease are good candidates for surgical lung volume reduction surgery. Your doctor will determine if you are a candidate for LVRS.

Lifestyle Management

A healthy lifestyle is important for everyone, including people with Alpha-1 and their caregivers. 

Avoid Infections

Although it is important to take preventive measures to avoid lung infections, you do not need to isolate yourself from other people. There is no guaranteed way to prevent infections. However, you will increase your chances of living an infection-free life if you are: 

• Proactive with your vaccines
• Wash your hands thoroughly and frequently (with soap)
• Aware of your surroundings

Learn best practices for stopping germs.

Become More Active

An exercise program is another very important step in managing lung disease. It is common for people with lung disease to limit physical activities because they are afraid of becoming short of breath. However, regular exercise can improve your heart, lungs and muscles. It also can help you breathe easier and feel better. Many people with chronic lung diseases enjoy walking, water aerobics and riding a stationary bike. Talk to your doctor about breathing techniques that can help you when you’re active.

Retrain your Breathing

It is helpful to use effective breathing techniques with exercise to minimize shortness of breath and assure adequate oxygen to your working muscles. These breathing exercises have the added benefit of helping you relax when you are anxious or stressed. Three types or breathing techniques are pursed lip breathing, coordinated breathing with exercise and diaphragmatic breathing. Diaphragmatic breathing is also sometimes called “belly breathing.” Talk to your doctor to discuss specific ways you can incorporate breathing techniques to help with your shortness of breath.

Give Up Smoking 

Giving up smoking and avoiding secondhand smoke is important in managing Alpha-1. Smoking can accelerate or speed the development of Alpha-1 related emphysema and COPD and shorten lifespan. For those who want assistance giving up smoking, resources are available.

Eat Healthy

Proper nutrition is an essential part of well-being and plays an important role when a chronic disease compromises health. Check out these healthy eating resources.

Clinical Trials

Clinical trials help determine new treatment options for diseases and conditions. Patients with Alpha-1 have access to clinical trials and should speak with their doctor to determine what trials may work best for them.