Alpha-1 Antitrypsin Deficiency

Alpha-1 Antitrypsin Deficiency

Learn About Alpha-1 Antitrypsin Deficiency

Alpha- antitrypsin deficiency is a rare genetic disorder that is passed on in families and primarily affects the lungs and liver. Rarely, the skin may be affected as well.  When this condition affects the lungs, it causes COPD (chronic obstructive pulmonary disease).

Key Facts

• Alpha-1-antitrypsin (AAT) is a protein produced by the liver that protects the lungs from inflammation and damage caused by inhaling irritants such as tobacco or wildfire smoke.
• It is estimated that there are between 80,000 to 100,000 people living with AAT deficiency in the United States, putting them at greater risk for developing COPD.
• Alpha-1 lung disease is commonly called ‘genetic COPD’
• Emphysema caused by AAT deficiency often presents at a younger age
• There is no cure, but treatment can help people with AAT deficiency manage their symptoms and live a better life.

How AAT Deficiency Affects Your Body

Alpha-1 antitrypsin (AAT) deficiency puts you at greater risk for lung, liver or skin disease. AAT is normally produced in the liver and travels through the blood to protect the lungs and liver from inflammation. AAT deficiency is genetic.  Affected individuals inherit a copy of the abnormal gene from each parent. Generally if you have at least one normal copy of the gene, your AAT levels will be adequate.  There are different types of genetic mutations that can determine the severity of this disease. The lower the level of circulating AAT protein, the greater the risk of disease. 
If you have AAT deficiency and you are exposed to irritants such as smoke, air pollution or dust, your lungs can become more easily damaged. This damage can make it harder to breathe and puts you at greater risk of emphysema, a type of chronic obstructive lung disease (COPD). Not everyone with AAT deficiency develops emphysema, but anyone who has a family member who has AAT deficiency or was diagnosed with COPD in their 40s or 50s should be tested for alpha-1 lung disease. Even if you have one functioning copy of the AAT gene, exposure to lung pollutants like smoke will cause loss of lung function at a greater rate than in persons without the gene mutation. 
AAT deficiency is more likely to affect your liver than your lungs. Untreated, it can result in poor liver function and increase your risk of cirrhosis and liver cancer. In some people, AAT deficiency may cause frequent red, painful nodules on the skin.

Who is at Risk?

AAT deficiency is a genetic (inherited) condition, which means it runs in families. Everyone inherits two AAT genes, one from each parent. If each of your parents pass on a mutated AAT gene, you have AAT deficiency. 
However, if you only receive one mutated AAT gene you become a carrier for AAT deficiency, with a 25% chance of any child you have developing AAT deficiency if your partner is also a carrier. 
AAT deficiency is more common in white people of Northern-European backgrounds, but anyone of any race or ethnicity can inherit it.
People with AAT deficiency are at an increased risk of developing lung disease early in life if they:

• smoke or use tobacco products
• are exposed to secondhand smoke
• work or live in a dusty environment
• have a family history of emphysema
• have a personal history of asthma
• or a history of repeated lung infections.

What Are the Symptoms of AAT Deficiency?

Symptoms can appear early in life, but many symptoms will not begin until a person reaches middle-age. People with AAT deficiency may have a wide variety of breathing-related symptoms like:

• Shortness of breath
• Chronic cough with sputum (mucus or phlegm) production
• Wheezing
• Reduced exercise ability
• Fatigue or tiredness
• Frequent lung infections like cold or flu

When the liver is affected by AAT deficiency, symptoms may include tiredness, loss of appetite, weight loss, swelling of the feet or belly, yellowish discoloration of the skin (jaundice) or white part of the eyes, vomiting of blood, or blood in stools.
In rare cases, AAT can cause a skin disease called panniculitis, resulting in hardened patches and red, painful lumps.
Early diagnosis of AAT deficiency can help prevent COPD from developing.

How AAT Deficiency Is Diagnosed

AAT deficiency runs in families so if you have family members with AATD, developed COPD in your 40s or 50s, or have liver disease, it is important medical history to discuss with your healthcare provider. Your healthcare provider may order you a blood test to check the level of AAT protein in your bloodstream. People who smoke with AAT deficiency tend to develop disease 10 or more years earlier than people who do not smoke.
Global Initiative for Chronic Obstructive Lung Disease (GOLD) Guidelines recommend that all people with COPD, regardless of age or ethnicity, should be tested for AAT deficiency. If you have a close family member—such as a parent or sibling—with AAT deficiency you should also be screened. Tests and procedures for healthcare provider may perform include:

• Blood test to check the level of alpha-1 antitrypsin protein in your body. If your levels are low, genetic testing with another blood test may be used to identify any abnormal genes. 
• Lung function tests like a spirometry test cannot diagnose AAT deficiency but it can tell how well a person’s lungs are working. 
• Imaging tests like a chest X-ray or CT scan of your lungs can check for damage in the lungs or rule out other conditions. 

If your healthcare provider suspects AAT deficiency is affecting the liver, the provider may order blood testing of liver function and in some cases an ultrasound of the liver. If you have low levels of AAT but normal liver and lung function tests, you may not need treatment; however, you will be monitored with repeat testing over time.

When to See Your Doctor

The symptoms mentioned above may occur with AAT deficiency but are not specific to it. You should consult your healthcare provider if you have any of the symptoms above and especially if you have a family history of liver or lung disease.

How AAT Deficiency Is Treated

People diagnosed with AAT deficiency before pulmonary symptoms occur usually have better outcomes than those who are diagnosed at later stages and are already experiencing respiratory illness. If you do not have any symptoms, you may be monitored by your healthcare provider and asked to return for regular follow-ups. 

To determine your treatment plan, your healthcare provider will review the results of other testing and the severity of your symptoms. AAT deficiency management and treatment options may include:

• Augmentation therapy is a long-term treatment that will increase the levels of AAT in your blood by giving you donated AAT. It cannot reverse lung damage that has already occurred, but it may help to slow lung damage.
• Augmentation therapy generally requires a weekly infusion and is reserved for those individuals with the lowest AAT levels. 
• Medications may be prescribed to control symptoms of COPD. If needed, antibiotics or inhaled corticosteroids may be recommended to control symptoms of flare-ups, infections or exacerbations.
• Oxygen therapy may be prescribed to help you get more air into your lungs. Oxygen is transferred from a tank through a tube that fits into the nostrils, or with the help of a mask. 
• Pulmonary rehabilitation is an exercise program designed to help people with chronic lung conditions like COPD maintain optimal activity levels and breathe better.
• Some people with advanced lung disease may be referred for a lung transplantation.
• Quit smoking as soon as possible and avoid secondhand smoke. The American Lung Association offers several smoking cessation programs to give people trying to quit the support they need.
• Protect yourself from environmental dusts or workplace exposure to toxic substances. 
• AAT deficiency research is quickly advancing, so clinical trials are available for people living with the disease. To view available clinical trials for people living with AATD, visit Lung.org/Clinical-Trials. 

If AAT deficiency affects your liver, you should avoid drinking alcohol. It is important to talk with your healthcare provider about your medications because some medications can cause liver damage.

More information

More information about AAT deficiency is available from the Alpha-1 Foundation, such as a nationwide network of affiliated support groups for alpha-1 patients and families.

Finding Support

Communicate regularly with your doctors about changes in your breathing and general health. The Lung Association recommends patients and caregivers join our Living with Lung Disease Support Community or attend Better Breathers Club meetings to connect with others facing this disease. You can also call the Lung Association's Lung Helpline at 1-800-LUNGUSA to talk to a trained respiratory professional who can help answer your questions and connect you with additional support. Learn More
Source: https://www.lung.org/lung-health-diseases/lung-disease-lookup/alpha-1-antitrypsin-deficiency