Alpha-1 antitrypsin deficiency: An inherited disorder that results in low or no production of a protein called alpha-1 antitrypsin. This deficiency leads to damage of various organs, principally the lungs and liver. Symptoms can surface at a very early age or in adulthood and relate to the lungs (with shortness of breath) or the liver. 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.
Alpha-1 antitrypsin is made in the liver which releases it into the bloodstream. When the lungs do not have enough alpha-1 antitrypsin, the enzyme neutrophil elastase is free to destroy lung tissue. As a result, the lungs lose some of their elasticity and their ability to expand and contract. 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.
Tobacco smoking worsens alpha-1 antitrypsin lung damage. It 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. The smoke itself also alters 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.
There are several ways a person can help protect the lungs from the effects of the disorder:
A person can also reduce symptoms of shortness of breath by doing the following:
Everyone receives one gene for alpha-1 antitrypsin from each parent. The most common type of alpha-1 antitrypsin gene is the M gene. A person who inherits an M gene from each parent has normal levels of alpha-1 antitrypsin. The Z gene is the most frequent gene 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.
Organization which attempts to identify those affected by alpha-1-antitrypsin deficiency and to improve their quality of their lives through support, education ...
Alpha-1 antitrypsin deficiency, or AAT deficiency, is a condition that raises your risk for certain types of lung disease, especially if you smoke.
Alpha-1 antitrypsin (AAT) deficiency is a condition in which the body does not make enough of a protein that protects the lungs and liver from damage.
Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. People with alpha-1 antitrypsin deficiency usually ...
Alpha-1 antitrypsin deficiency is an inherited disorder that can cause lung disease in adults and liver disease in adults and children. Alpha-1 antitrypsin (AAT) is a ...