Alpha-1 antitrypsin deficiency: Symptoms & signs, Diagnosis & Tests

Symptoms & Signs

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

Diagnosis & 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

Alpha-1 antitrypsin deficiency: Overview, Causes

Alpha-1 antitrypsin deficiency: Symptoms & signs, Diagnosis & Tests

Alpha-1 antitrypsin deficiency: Treatment

Review Date : 8/29/2008
Reviewed By : 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.
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