• Home

Home > Medical Reference > Encyclopedia (English)

Toggle: English / Spanish

Alpha-1 antitrypsin deficiency

• Overview
• Symptoms
• Treatment

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

References:

Perlmutter, DH. Alpha-1-antitrypsin deficiency: diagnosis and treatment. Clin Liver Dis . November 2004;8:839-859.

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.

• Review Date: 3/1/2007
• Reviewed By: David A. Kaufman, M.D., Assistant Professor, Division of Pulmonary Medicine, Mount Sinai School of Medicine, New York, NY. Review provided by VeriMed Healthcare Network.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org). URAC's accreditation program is the first of its kind, requiring compliance with 53 standards of quality and accountability, verified by independent audit. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s editorial process . A.D.A.M. is also a founding member of Hi-Ethics (www.hiethics.com) and subscribes to the principles of the Health on the Net Foundation (www.hon.ch).

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician 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. Copyright 1997-2007 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.