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Alpha-1 Antitrypsin Deficiency Symptoms, Causes and Risk Factors

What Are the Symptoms of AAT Deficiency?

Individuals with AAT deficiency may have a wide variety of symptoms. Symptoms can appear early in life or may not begin until a person is 50 or 60 years old.

Shortness of breath, excessive cough with phlegm/sputum production, wheezing. These symptoms can persist and lead to a decrease in exercise capacity and a persistent low energy state or tiredness. Symptoms may occur chronically or with acute infections of the respiratory tract. Occasionally a person with AAT deficiency may have chest pain that increases when breathing in. This can be due to a life-threating collapsed lung.

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.

What Causes AAT Deficiency?

AAT deficiency is a hereditary (or inherited) condition. AAT deficiency happens when one or both parents pass an abnormal gene to their child. Based on inherited genes, AAT levels may be normal, reduced or absent. When a child inherits an abnormal gene from each parent, it increases the severity of disease.

When to See Your Doctor

The symptoms mentioned above may occur with but are not specific to AAT deficiency. You should consult your doctor if you have any of the symptoms above. However, if you are a young to middle-aged person with these symptoms, or have a family history of liver or lung disease, you should see your doctor to discuss testing for AAT deficiency.

    This content was developed in partnership with the CHEST Foundation, the philanthropic arm of the American College of Chest Physicians.

    Reviewed and approved by the American Lung Association Scientific and Medical Editorial Review Panel. Last reviewed August 4, 2016.

    Page Last Updated: July 23, 2019

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