What is alpha-1 antitrypsin deficiency?
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.
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.
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.
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.
If you have questions about alpha-1 antitrypsin deficiency, feel free to ask
your nurse or doctor.
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