Alpha-1 antitrypsin deficiency

Injury	Disease	Nutrition	Poison

Symptoms	Surgery	Test	Special Topic

Lungs

Liver anatomy

Overview

Symptoms

Treatment

Prevention

Alpha-1 antitrypsin deficiency

Alternative Names:

AAT deficiency

Symptoms:

Shortness of breath with and without exertion
Unintentional weight loss
Wheezing

Additional symptoms that may be associated with emphysema or cirrhosis include the following:

Abnormal breathing pattern (exhalation takes more than twice as long as inspiration)
Agitation
Ankle, feet, and leg swelling
Awakening from sleep not feeling rested
Bloody, dark black or tarry bowel movements (melena)
Breast development in males
Confusion
Daytime sleepiness
Difficulty falling asleep or staying asleep (insomnia)
Difficulty paying attention
Dry mouth
Excessive thirst
Fatigue
Fluctuating mood
Headache
Impaired concentration
Impaired judgment
Impotence
Increased front-to-back diameter of the chest (barrel-shaped chest)
Irritability or poor temper control
Light-headedness or fainting while standing
Memory loss
Paleness
Rapid heart rate when rising to a standing position
Skin rash or lesion on the hands or feet, redness
Slow, sluggish, lethargic movement
Swollen abdomen or increased girth
Vision abnormalities
Vomiting blood
Vomiting material that looks like coffee grounds

Signs and tests:

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

Arterial blood gases
Serum alpha-1 antitrypsin level
Chest x-ray
Pulmonary function test
Genetic testing

Review Date: 2/1/2005
Reviewed By: Allen J. Blaivas, D.O., Division of Pulmonary and Critical Care Medicine, UMDNJ-New Jersey Medical School, Newark, NJ. Review provided by VeriMed Healthcare Network.

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