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- Alpha-1 is an inherited disease.
- People with the defective gene make a defective form of an essential protein called alpha-1 antitrypsin, or AAT.
- The defective form of AAT is unable to properly travel to the lungs, where it would normally help neutralize an enzyme that fights infections. Left unchecked, this enzyme damages lung tissue, causing emphysema.
- To develop severe Alpha-1, someone must inherit a defective copy of the gene from both parents.
- A blood test can determine whether someone has Alpha-1.
- People who inherit a defective gene from just one parent are at lower risk of developing emphysema and are called carriers of the disease.
- About 116 million people worldwide carry the gene that causes Alpha-1.
- About 100,000 Americans today have the disease.
- Alpha-1 affects approximately one in every 2,500 people.
- Most people with Alpha-1 are of European descent.
- Smoking greatly increases the risk someone with the Alpha-1 gene will develop emphysema.
- People with Alpha-1 should never start smoking, and if they smoke now, should stop.
- The progression of Alpha-1 can be significantly slowed down with replacement therapy, which raises the level of AAT in the lungs.
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| 2024 American Association for Respiratory Care |
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