AAT deficiency

• Shortness of breath with and without exertion, and other symptoms of chronic obstructive pulmonary disease (COPD)
• Symptoms of severe liver disease ( cirrhosis)
• Unintentional weight loss
• Wheezing

A physical examination may reveal a barrel-shaped chest, wheezing, or decreased breath sounds. The following tests may also help with diagnosis:

• Alpha-1 antitrypsin blood test
• Arterial blood gases
• Chest x-ray
• CT scan of the chest
• Genetic testing
• Lung function test

Your doctor may suspect you of having this condition if you develop:

• Emphysema before age 45
• Emphysema but have never smoked or been exposed to toxins
• Emphysema and you have a family history of the condition
• Liver disease or hepatitis and no other cause can be found
• Liver disease or hepatitis and you have a family history of liver disease

Images

Liver anatomy

Lungs

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Alpha Treatment

Review Date: 09/15/2010
Reviewed By: David C. Dugdale, III, MD, Professor of Medicine, Division of Pulmonary, Allergy and Critical Care, University of Pennsylvania, Philadelphia, PA. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)