Alpha1-antitrypsin deficiency

Alpha1-antitrypsin deficiency is an inherited condition - meaning it is passed on from generation to generation. The alpha1-antitrypsin (AAT) protein is produced in your liver. This enzyme protects tissues in your body from infection. Because your liver does not produce AAT protein regularly it may build up in your liver causing liver disease. A decrease in AAT can cause lung disease.

How is AAT deficiency diagnosed?

Since AAT deficiency is a genetic disorder you may already be aware of your condition and the steps you should take to control your exposure to its affects. Although AAT deficiency is present from birth very often the symptoms are not apparent until much later in life.

Undiagnosed patients often present with:

• Emphysema (coughing, wheezing, shortness of breath)
• Unexplained liver problems
  

How is AAT deficiency treated?

There is no specific treatment for AAT deficiency. Key to controlling your AAT deficiency is working with an expert in this condition who can quickly treat any symptoms and advise you on steps to take to avoid infection.