Alpha-1 Antitrypsin Deficiency Symptoms and Diagnosis

What Are the Symptoms of AAT Deficiency?

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

• Shortness of breath
• Excessive cough with phlegm/sputum production
• Wheezing
• Decrease in exercise capacity and a persistent low energy state or tiredness
• Chest pain that increases when breathing in

Symptoms may be chronic or occur with acute respiratory tract infections, such as a cold or the 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.

How AAT Deficiency Is Diagnosed

If you are a young person with COPD or liver disease, your doctor may decide to give you a simple blood test to check for AAT deficiency. In most individuals with AAT deficiency, the warning signs of lung disease start to appear between the age of 30 or 40 years. Smokers with AAT deficiency tend to develop disease 10 or more years earlier than non-smokers.

Global Initiative for Chronic Obstructive Lung Disease (GOLD) Guidelines recommend that all individuals 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. Your doctor may order a screening blood test to check the level of alpha-1 antitrypsin in your body. If your levels are low, genetic testing with another blood test may be used to identify any abnormal genes. You will also likely have a lung function or spirometry test, a chest X-ray or CT scan of your lungs, 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.