Alpha-1 Antitrypsin Deficiency
(A-1ATD)
What is A-1ATD?
Alpha-1 antitrypsin is a protein that is made in the liver. The liver releases this protein into the bloodstream. Alpha-1 antitrypsin protects the lungs so they can work normally. Without enough alpha-1 antitrypsin, the lungs can be damaged, and this damage may make breathing difficult. In addition, liver damage (hepatitis, cirrhosis) can occur in both children and adults. Alpha-1 antitrypsin deficiency is an inherited (passed down from parents) disorder that causes low levels of, or no alpha-1 antitrypsin in the blood.
How do normal lungs work? 
Air usually enters the nose and mouth and goes down the air tube (trachea) to two main air passages (bronchi). These passages allow air to go into the right and left lung.
Each bronchus branches out into grape-like air sacs called alveoli. Through the alveoli, oxygen enters the bloodstream during breathing in (inspiration), and carbon dioxide, a waste product, leaves the body during breathing out (expiration).
White blood cells normally found in our bodies help protect us from infection. But white blood cells also release an enzyme, called neutrophil elastase, that can damage the lungs. In normal lungs, alpha-1 antitrypsin protects the lungs from the harmful effects of neutrophil elastase.
What happens if there isn't enough alpha-1 antitrypsin?
When the lungs do not have enough alpha-1 antitrypsin, neutrophil elastase is free to destroy lung tissue. As a result, the lungs lose some of their ability to expand and contract (elasticity). This leads to emphysema and sometimes makes breathing difficult. Shortness of breath may occur. The speed at which lung tissue is destroyed varies with each person. What is known is that tobacco smoking worsens the lung damage. Accumulation of the abnormal protein in the liver leads to significant liver disease in some.
How does smoking worsen lung damage caused by the disorder?
Tobacco smoke irritates and damages the lungs, prompting the body to send more white blood cells to protect them. The more white blood cells there are, the more neutrophil elastase is made, causing even more lung damage. Also, the smoke itself changes alpha-1 antitrypsin so that it cannot do as good a job protecting the lungs from harm. Smokers with alpha-1 antitrypsin deficiency have a faster rate of lung damage. So if you smoke, stop.
What are the risk factors for the disorder?
Alpha-1 antitrypsin deficiency is not contagious, and you cannot "catch it" from someone. The disorder is inherited, which means that it is passed on genetically from a relative. All persons who have relatives with this disorder should consider being tested to find out whether they carry the gene for it.
How is the disorder inherited?
Everyone receives one gene for alpha-1 antitrypsin from each parent. The M gene is the most common type of gene, and it is normal. The person who inherits an M gene from each parent has normal levels of alpha-1 antitrypsin.
The Z gene is the most common defect that causes the disorder. If a person inherits one M gene and one Z gene, that person is a carrier of the disorder. While such a person may not have normal levels of alpha-1 antitrypsin, there should be enough to protect the lungs. The person who inherits the Z gene from each parent is called "type ZZ." This person has very low alpha-1 antitrypsin levels, allowing elastase to damage the lungs. In rare cases, a person's body may not produce any alpha-1 antitrypsin. This condition is also inherited, and it is called "null-null type." Another type is called "dysfunctional." In this case, the alpha-1 antitrypsin levels are normal but it does not work the way it should. This type of the disorder is very uncommon.
What are the signs and symptoms of the alpha-1 antitrypsin deficiency?
A person with this disorder can be short of breath during daily activities. This is because the air sacs have been destroyed, and the lungs trap air as they expand and contract during breathing. Liver disease shows up either early on as "hepatitis or neonatal jaundice" and even cirrhosis (scarring of the liver), or later in life as cirrhosis and primary cancer of the liver (Hepatoma).
Can this disorder be treated?
There are several ways you can protect your lungs from the effects of the disorder: - receive immunizations for flu and pneumonia
- receive early treatment for lung infections by seeing your doctor at the first sign of a cold or other lung problem
- avoid tobacco smoke, noxious fumes, dust, and pollution
- stay fit by doing regular exercise
- increase your alpha-1 antitrypsin level. Speak with your doctor about alpha-1 antitrypsin replacement therapy.
You can also reduce symptoms of shortness of breath by doing the following: - using medications (for example, bronchodilators, or inhaled steroids) prescribed by your doctor to help open your airways
- using oxygen if your doctor prescribes it
- doing pulmonary rehabilitation (including breathing techniques). Call your local lung association to find out more.
Liver Transplant is presently the only treatment for the liver damage produced by this disease. In fact, A-1ATD is presently the most common indication for liver transplant in the pediatric population.
Research is being conducted at the NIH and elsewhere to learn more about alpha-1 antitrypsin deficiency. Scientists are studying how the disorder affects the body as well as new and future treatments. Someday, gene therapy may be able to correct the inherited problem. - A-1ATD is an inherited disease that results in low or no production of an important protein, Alpha-1 Antitrypsin.
- Somehow the lack of this protein leads to damage of various organs, but mainly to the lung and liver.
- Symptoms may become apparent either at a very early age or in adulthood, manifesting either as shortness of breath or liver related symptoms ( jaundice , fatigue, fluid in the abdomen, mental changes, or gastrointestinal bleeding).
- There are several options for treatment of the lung disease, including replacement of the missing protein. Treatment of the liver disease is a well-timed liver transplant.
For more information about Alpha-1 Antitrypsin Deficiency please visit the following sites:
National Jewish Medical and Research Center (http://www.nationaljewish.org/main.html)
Columbia University: Alpha-1-antitrypsin Deficiency (http://cpmcnet.columbia.edu/dept/gi/alpha1AT.html)
This information has been supplied in part by the National Institutes of Health NIH and has been reproduced with its permission.
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