Alpha-1 Antitrypsin Deficiency Symptoms and Diagnosis

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.