Alpha-1 Antitrypsin, also called AAT, is a known protein that is found in the blood. The body uses AAT to protect the lungs. This protein then fights off the activated enzymes that may damage the lungs.
One of the main purposes of AAT is it works as an inactivating agent for several enzymes. One good example of these enzymes is elastase. The elastase is produced by the white blood cells called neutrophils; which are the most abundant white blood cells in a healthy adult’s body. Through the process of the elastase, the proteins of the body are broken down to be excreted and recycled by the body. Since the job of elastase is breaking down certain proteins, it also has the possibility to affect the lung tissues in it’s breaking down the process. Thus, the AAT limits the action of the elastase to avoid any form of damage.
How do we get Alpha-1 Antitrypsin?
The alpha-1 antitrypsin is produced in the liver. Our bodies naturally produce amounts of alpha-1 antitrypsin. However, there are some instance that the AATs produced by the liver is unable to go to the lungs to do its function. This leads to a condition called alpha-1 antitrypsin deficiency or AATD.
What is Alpha-1 Antitrypsin Deficiency?
Just like any other condition in the body, when there is an abnormality or a lack of something, it can cause deficiencies.
This deficiency happens when the body does not get the right amount of nutrients it needs to do certain functions. Also, when a deficiency is present in a person, it can lead to a variety of health problems. This depends on which nutrient the person lacks.
For AATD, the person gets this condition from their parents. AATDs are known to be genetic in nature, they are passed down to the person through their genes.
The main cause of AATD is when there is a change or mutation in one or both of the genes that are responsible for the person’s AAT. Therefore these changes can produce either lesser than normal amounts of AAT or the AAT’s functions are reduced, resulting in alpha-1 antitrypsin deficiency that is triggered when 30% less of the normal number of AATs are produced.
Symptoms of AATD
Having AATD may mean some symptoms will be present. But not all people with AATD experience such symptoms, some of them need to reach a certain age before the symptoms occur while others experience no symptoms at all. People who don’t experience AATD symptoms are mostly advised to engage in different laboratory tests to be able to detect any possibility of having the condition.
In addition, in the case of AATD, it can either be the liver or the lungs that is affected.
However, here are some symptoms for AATD:
Again, the most affected system in the body by AATD is the respiratory system. The person may experience a lot of respiratory symptoms like shortness of breath even from just doing mild activities, inability to do previously practiced forms of exercise, wheezing, coughing, other respiratory infections, fatigue, and rapid heartbeat.
There are also instances when the person may get affected with a condition called emphysema; where the small air sacs called alveoli are damaged. The person then experiences breathing difficulties, hacking cough, and even the shape of the lungs get affected.
Another possible condition that can occur with AATD is chronic bronchitis. Chronic bronchitis is where the airways get irritated that results to a smaller pathway for the circulation of air inside the lungs. Just like a person with asthma, someone with chronic bronchitis experiences coughing and breathing troubles.
All of these symptoms are caused by damaged tissues in the lungs.
Symptoms affecting the liver
The AATs are known to be produced by the liver. But when there is an abnormality in the production of AAT in the liver, some complications also occur like swollen abdomen, swollen feet and/or legs, and the yellowish color of the eyes and skin.
There will also be a possible effect of liver cirrhosis, which is fatal. Cirrhosis is when the healthy cells of the liver are damaged, causing the chance of failure of the organ.
It is also said that people with AATD may have a shorter life expectancy, depending on how the symptoms are severe.
How to test AATD
No physical test can suggest the possibility of a person to have alpha-1 antitrypsin deficiency. However, there are other tests like a genetic test, blood test, and clinical exams that can help detect AATD. These tests are also important for people who do not experience AATD symptoms but are still considered to have them.
First of all, AATDs are originally a result of genetic mutations and abnormalities on one or both of the genes responsible for AAT production. In other words, genetic tests are highly recommended to test possibilities of AATD.
Blood tests can be performed to measure the patient’s alpha-1 antitrypsin level in the blood. When test results show 30% less AAT level than the usual 100-300 mg/dL (milligrams per decimeter), the patient has AATD and a high risk in getting lung problems.
Clinical exams that test the patient’s lung condition; like X-rays or stethoscope tests to hear the patient’s breathing, are done to detect respiratory problems in the patient and also a possible AATD. When done and checked regularly, these exams help contribute to the diagnosis if the patient really has AATD.
Is there a treatment for Alpha-1 Antitrypsin Deficiency
Unfortunately, there is no known treatment for AATD. There are, however, different medications that help keep the symptoms at bay.
Most medications used for patients with AATD are the same for patients with asthma. These medications are inhalers and nebulizers that help aid the irritated airways of the lungs that lead to their breathing difficulties.
Patients can also use oral medications that reduce the inflammation of the lung airways. Some oral medications are known with the generic names montelukast, zafirlukast, and zileuton.