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Alpha-1 antitrypsin deficiency
AAT deficiency; Alpha-1 protease deficiency; COPD - alpha-1 antitrypsin deficiency; Cirrhosis - alpha-1 antitrypsin deficiency
Alpha-1 antitrypsin (A1AT) deficiency is a condition in which the body does not make enough of a protein that protects the lungs and liver from damage. The condition can lead to emphysema and liver disease ( cirrhosis ).
Emphysema
Chronic obstructive pulmonary disease (COPD) is a common lung disease. Having COPD makes it hard to breathe. There are two main forms of COPD:Chroni...
Cirrhosis
Cirrhosis is scarring of the liver and poor liver function. It is the last stage of chronic liver disease.
Causes
A1AT is a type of protein called a protease inhibitor. A1AT is made in the liver and it works to protect the lungs and liver.
A1AT deficiency means there is not enough of this protein in the body. It is caused by a genetic defect. The condition is most common among Europeans and North Americans of European descent.
Adults with severe A1AT deficiency will develop emphysema, often before 40 years of age. Smoking can increase the risk of emphysema.
Symptoms
Symptoms may include any of the following:
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Shortness of breath
with and without exertion, and other symptoms of COPD
Shortness of breath
Breathing difficulty may involve:Difficult breathingUncomfortable breathingFeeling like you are not getting enough air
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Loss of weight
without trying
Loss of weight
Unexplained weight loss is a decrease in body weight, when you did not try to lose the weight on your own. Many people gain and lose weight. Uninten...
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Wheezing
Wheezing
Wheezing is a high-pitched whistling sound during breathing. It occurs when air moves through narrowed breathing tubes in the lungs.
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Exams and Tests
A physical examination may reveal a barrel-shaped chest, wheezing, or decreased breath sounds. The following tests may also help with diagnosis:
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A1AT
blood test
A1AT
Alpha-1 antitrypsin is a laboratory test to measure the amount of alpha-1 antitrypsin (A1AT) in your blood.
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Arterial blood gases
Arterial blood gases
Blood gases are a measurement of how much oxygen and carbon dioxide are in your blood. They also determine the acidity (pH) of your blood.
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Chest x-ray
Chest x-ray
A chest x-ray is an x-ray of the chest, lungs, heart, large arteries, ribs, and diaphragm.
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CT scan
of the chest
CT scan
A computed tomography (CT) scan is an imaging method that uses x-rays to create pictures of cross-sections of the body. Related tests include:Abdomin...
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Lung function test
Lung function test
Pulmonary function tests are a group of tests that measure breathing and how well the lungs are functioning.
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Your health care provider may suspect you of having this condition if you develop:
- Emphysema before age 45
- Emphysema but you have never smoked or been exposed to toxins
- Emphysema and you have a family history of the condition
- Cirrhosis and no other cause can be found
- Cirrhosis and you have a family history of liver disease
Treatment
Treatment for A1AT deficiency involves replacing the missing A1AT protein. The protein is given through a vein each week or every 4 weeks. This is only slightly effective at preventing more lung damage in people without end-stage disease. This procedure is called augmentation therapy.
If you smoke, you need to quit.
Other treatments are also used for emphysema and cirrhosis.
Outlook (Prognosis)
Some people with this deficiency will not develop liver or lung disease.
Emphysema and cirrhosis can be life threatening.
Possible Complications
Complications of A1AT deficiency include:
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Bronchiectasis
(damage of the large airways)
Bronchiectasis
Bronchiectasis is a disease in which the large airways in the lungs are damaged. This causes the airways to become wider. Bronchiectasis can be pres...
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Chronic obstructive pulmonary disease (
COPD
)
COPD
Chronic obstructive pulmonary disease (COPD) is a common lung disease. Having COPD makes it hard to breathe. There are two main forms of COPD:Chroni...
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When to Contact a Medical Professional
Call your provider if you develop symptoms of A1AT deficiency.
References
Han MK, Lazarus SC. COPD: clinical diagnosis and management. In: Broaddus VC, Mason RJ, Ernst JD, et al, eds. Murray and Nadel's Textbook of Respiratory Medicine . 6th ed. Philadelphia, PA: Elsevier Saunders; 2016:chap 44.
Hatipoglu U, Stoller JK. a1-antitrypsin deficiency. Clin Chest Med . 2016;37(3):487-504. PMID: 27514595 www.ncbi.nlm.nih.gov/pubmed/27514595 .
Winnie GB, Boas SR. a1-Antitrypsin deficiency and emphysema. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics . 20th ed. Philadelphia, PA: Elsevier; 2016:chap 393.
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Lungs - illustration
The major features of the lungs include the bronchi, the bronchioles and the alveoli. The alveoli are the microscopic blood vessel-lined sacks in which oxygen and carbon dioxide gas are exchanged.
Lungs
illustration
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Liver anatomy - illustration
The liver serves a wide variety of body functions, including detoxifying blood and producing bile that aids in digestion.
Liver anatomy
illustration
-
Lungs - illustration
The major features of the lungs include the bronchi, the bronchioles and the alveoli. The alveoli are the microscopic blood vessel-lined sacks in which oxygen and carbon dioxide gas are exchanged.
Lungs
illustration
-
Liver anatomy - illustration
The liver serves a wide variety of body functions, including detoxifying blood and producing bile that aids in digestion.
Liver anatomy
illustration
Review Date: 8/21/2016
Reviewed By: Denis Hadjiliadis, MD, MHS, Paul F. Harron, Jr. Associate Professor of Medicine, Pulmonary, Allergy, and Critical Care, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. Also reviewed by David Zieve, MD, MHA, Isla Ogilvie, PhD, and the A.D.A.M. Editorial team.
