Hospital Virtual Tour

Alpha-1 antitrypsin deficiency - Symptom

Alternative Names

AAT deficiency

Symptoms:

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

Signs and tests:

A physical examination may reveal a barrel-shaped chest. Listening to the chest with a stethoscope may reveal 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
Pulmonary function test

Your doctor may suspected you having this condition if you develop:

Emphysema before age 45
Emphysema but have never smoked or been exposed to toxins
Liver disease or hepatitis and no other cause can be found

Lungs

Liver anatomy

Reviewed last on: 8/29/2008
Sean O. Stitham, MD, private practice in Internal Medicine, Seattle, WA; Benjamin Medoff, MD, Assistant Professor of Medicine, Harvard Medical School, Pulmonary and Critical Care Unit, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Köhnlein T, Welte T. Alpha-1 antitrypsin deficiency: pathogenesis, clinical presentation, diagnosis, and treatment. JAMA. 2008;121(1):3-9.

Stoller JK, Tomashefski J, Crystal RG, et al. Mortality in individuals with severe deficiency of alpha-1-antitrypsin: Findings from the National Heart, Lung, and Blood Institute Registry. Chest. April 2005;127:1196-1204.

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. © 1997- A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.

Home > Medical Reference > Encyclopedia (English)