Alpha-1 Protease Inhibitor Deficiency and Benefits
Alpha-1 antitrypsin (AAT) is a protein that is normally found in your lungs and bloodstream. This protein helps protect your lungs from diseases like emphysema and COPD (chronic obstructive pulmonary disease).
What is Alpha-1 protease inhibitor deficiency?
It is a condition that is characterized by your body not making enough of the alpha-1 antitrypsin protein. Because of this, you are more susceptible to lung diseases like COPD and emphysema. Alpha-1 protease inhibitor deficiency also makes you more likely to get these lung diseases at a much younger age than would normally be expected. This can be as early as between the ages of 30 and 40.
Alpha-1 protease inhibitor deficiency may result in damage to your liver. This condition can also cause several other problems that are not as common.
Thankfully, alpha-1 protease inhibitor deficiency is a rare condition. It affects around 1 in 5,000 to 7,000 people in North America. Men and women are affected equally by alpha-1 protease inhibitor deficiency.
Alpha-1 is Genetic
Alpha-1 protease inhibitor deficiency is an inherited (genetic) condition. What this means is that it is passed down to you by your parents. Alpha-1 protease inhibitor deficiency is handed down by means of a defective (mutated) gene that causes an insufficient amount of alpha-1 antitrypsin to be made in your lungs, liver and blood.
The pattern of inheritance for alpha-1 protease inhibitor deficiency is what is known as autosomal recessive. This means that in order for you to have this condition, you have to inherit the defective gene from both of your parents. If you only get one defective gene, you become a carrier of alpha-1 protease inhibitor deficiency, but you do not have it.
Signs of Alpha-1 protease inhibitor deficiency
The first signs and symptoms of lung disease that result from alpha-1 protease inhibitor deficiency usually begin to show up when you are between 20 and 50 years of age. There are several different signs and symptoms that you may experience. Some of these are:
- Shortness of breath that may occur after you have done only mild activity
- A rapid heartbeat when you are standing
- Weight loss that is unintentional
- Wheezing (a high-pitched whistling sound as you breathe)
- Abnormalities in your vision
- A reduction in your ability to exercise
- Respiratory infections that are recurring
Many times, alpha-1 protease inhibitor deficiency is undiagnosed. A lot of people with COPD (chronic obstructive pulmonary disease) are thought to have the disease without any underlying cause that can be found for it. However, it has been estimated that 1% of all COPD patients are really afflicted with alpha-1 protease inhibitor deficiency.
Diagnosing Alpha-1 protease inhibitor deficiency
In order to diagnose your alpha-1 protease inhibitor deficiency, your doctor will probably do a physical exam, want to know if you have a family history of this condition and ask about your signs and symptoms that you are having. There are several diagnostic tests and procedures that your doctor will likely want you to have so that a diagnosis of alpha-1 protease inhibitor deficiency may be confirmed. Some of these may include:
- A chest X-ray
- An alpha-1 antitrypsin blood test
- A test of your arterial blood gases
- Genetic testing
- Computerized tomography of your chest (CT scan)
- A pulmonary function test
Denied Benefits for Alpha-1?
If you are disabled and unable to work because of alpha-1 protease inhibitor deficiency and/or complications that have been caused by it or other ailments that you have in conjunction with it, you may have requested Social Security disability benefits or disability benefits from the Social Security Administration. If your request was denied by the Social Security Administration, complete our online form for a free attorney evaluation.
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