Alpha-1 antitrypsin deficiency is an inherited genetic disorder that affects the lungs. While it can also affect the liver, Alpha-1 antitrypsin deficiency, also known as Alpha-1, primarily affects the lungs. People with the condition do not have the ability to create enough AAT, which is a protein that protects the liver and lungs.
Because they do not have enough AAT, people with Alpha-1 are at increased risk for lung diseases and disorders. They do not have the same level of resistance and protection for their lungs, which puts them at higher risk. People with Alpha-1 antitrypsin deficiency are most at risk for emphysema and COPD, two conditions that cause reduced lung capacity, coughing, breathing difficulties, and more.
Since alpha-1 antitrypsin deficiency is a congenital disorder, there is no way to prevent it. There is also no permanent cure for the condition. There are, however, lifestyle changes and treatments that can help mitigate symptoms and prevent complications. Having Alpha-1 diagnosed and treated is important because extreme complications of Alpha-1 can be life-threatening.
Currently, the best treatment for Alpha-1 antitrypsin deficiency is augmented therapy. Augmented therapy is where you receive donated AAT proteins from other people. The increase in AAT is often enough to supplement the missing proteins and protect your lungs and liver. That way, your lungs have natural protection, and you are less likely to get lung diseases.
However, augmented therapy is only meant to prevent future lung problems and not to help current ones. Therefore, if you have Alpha-1 and it caused emphysema or other lung problems, augmented therapy cannot undo that damage. Because of how augmented therapy works, it is important to have Alpha-1 antitrypsin deficiency diagnosed early on so that you can start treatment as quickly as possible.
Aside from augmentation therapy, bronchodilators are the primary treatment used for Alpha-1 antitrypsin deficiency. Bronchodilators, such as formoterol and salbutamol, are medications that relax the muscles and airways in your lungs. By relaxing the muscles in the walls of the lungs, they do not constrict, and it is easier to breathe.
As with augmentation therapy, bronchodilators are not a cure for Alpha-1. They make it easier to breathe and can mitigate the symptoms and complications of Alpha-1 antitrypsin deficiency. Bronchodilators are especially useful as an emergency treatment if you are in the midst of breathing difficulties.
In some cases, Alpha-1 can cause potentially life-threatening complications. This is especially true when it leads to emphysema or COPD. When Alpha-1 gets bad enough, you may not be able to breathe on your own, and you will need oxygen therapy. Oxygen therapy is typically administered via a nasal cannula or a ventilator and is only used in extreme situations.
If you have had Alpha-1 antitrypsin deficiency for a while and it has caused permanent lung damage, you can benefit from pulmonary rehabilitation. Pulmonary rehabilitation includes breathing exercises and learning new breathing techniques to make breathing easier with lung damage. Pulmonary rehabilitation is typically administered by a physical therapist or respiratory therapist, as they have the most knowledge about how to help your lungs.
If you want to avoid more in-depth treatments, the best way to treat Alpha-1 is with lifestyle changes, such as smoking cessation. Smoking is one of the worst things you can do if you have Alpha-1, and it is essential to quit smoking if you currently do.
It is important to have Alpha-1 antitrypsin deficiency diagnosed and treated as early as possible. If treatment begins early enough, you can avoid most of the potential complications of Alpha-1, such as emphysema and COPD. If your lungs become so damaged that you can no longer breathe on your own, you will need a transplant. However, this is the worst-case scenario and Alpha-1 does not progress that far with proper treatment.