Alpha-1 Antitrypsin Deficiency, better known as AAT deficiency, is a condition that can affect the liver, lungs, and other internal organs and body parts. AAT is a genetic disorder that children are born with when their parents are both carriers of a specific genetic mutation.
The biggest risk of Alpha-1 Antitrypsin Deficiency, which we will refer to as Alpha-1, is to the lungs because it can cause COPD and emphysema. However, Alpha-1 can also cause serious liver damage, including cirrhosis and liver failure, if the condition is left untreated. Therefore, to protect your lungs and liver, it is important to seek a diagnosis and treatment if you have Alpha-1.
The reason Alpha-1 is so dangerous is that your body does not produce enough AAT, an essential protein that protects your liver and lungs from inflammation. Because you do not have enough AAT, any irritants, such as smoke, dirt, pollen, and mould spores that enter your body, cause immediate liver and lung irritation. Over time, enough irritation will cause scarring on these organs and eventual lung and liver failure.
If you test positive for Alpha-1, your doctor will likely recommend augmentation therapy as the first course of treatment. Augmentation therapy increases the amount of AAT proteins in your body by directly transfusing them into your system via an IV. AAT proteins are taken via the blood from healthy donors and are then purified and made ready for transfusing.
While augmentation therapy cannot reverse liver damage that has already occurred, it can prevent future scarring from occurring. This happens because the fresh supply of AAT coats and protects the liver and keeps irritants from causing irritation. Treatments must happen at least once per week and will likely go on for the rest of your life.
In addition to augmentation therapy, medications are also beneficial in treating people with Alpha-1. Here are some of the most common:
Bronchodilators, such as salbutamol, are medications that open your airways and make it easier to breathe. While this is primarily used to help the lungs, being able to breathe easier also benefits the liver by increasing the flow of essential nutrients.
As with bronchodilators, inhaled corticosteroids, such as budesonide, are more beneficial for the lungs than the liver in people with Alpha-1. However, the more oxygen you get, the healthier your liver will be.
Oxygen therapy is a treatment where oxygen is pumped forcefully into your lungs via a ventilator, nasal cannula, or an oxygen mask. Oxygen therapy is administered when your lungs are so scarred and damaged that you can no longer breathe on your own. As with medications for Alpha-1, oxygen therapy is directed toward the lungs but benefits the liver as well.
Pulmonary rehabilitation is administered either before lung failure has occurred or afterward to teach your lungs how to work again. Pulmonary rehabilitation consists of breathing exercises administered by qualified therapists and is beneficial for the lungs and liver alike.
Anyone with Alpha-1 will need to make some lifestyle changes to protect their lungs and liver since these organs lack the means to protect themselves properly.
If treatments are unsuccessful or you started too late and cirrhosis has damaged enough of your liver to cause liver failure, you will need a transplant. A liver transplant removes the damaged portions of your liver, or the entire thing, and replaces it with a healthy organ. A liver transplant is the only permanent cure for Alpha-1, as it is capable of producing adequate amounts of AAT.
While Alpha-1 Antitrypsin Deficiency is a scary and life-threatening disease, it is also a treatable one. However, surviving Alpha-1 depends on getting an early diagnosis and starting treatment as soon as possible. The sooner you start treatment, the healthier your lungs and liver will be and the less likely they are to fail and require a transplant.