Are you aware of this genetic disease that affects both the lungs and liver? (Alpha-1 Antitrypsin Deficiency)

Do you also have a cough and difficulty breathing that has been going on for a long time? You may think that this is normal. But sometimes, there may be a very important reason behind these symptoms that we have not heard much about. Today we are going to talk about such a condition. That is Alpha-1 Antitrypsin Deficiency, or `(Alpha-1 Antitrypsin Deficiency)`. Some people also call it "Alpha-1" for short.

Simply put, what is Alpha-1?

Alpha-1 is an inherited genetic disorder that we inherit from our parents. What happens in this is that our body cannot produce enough of a protein called alpha-one antitrypsin `(AAT)`, which is a protein that protects our lungs. Think of this `AAT` protein as a guard for our lungs. When this guard is lost, our lungs are much more likely to be damaged.

Therefore, someone with Alpha-1 status is at increased risk of developing lung diseases, especially emphysema (damage to the air sacs in the lungs), cirrhosis (scarring of the liver), and panniculitis, a rare skin condition. Sometimes, these conditions can be life-threatening.

For this reason, some people also call this disease "genetic COPD".

How does this condition occur? Who is most at risk?

To develop Alpha-1, we need to inherit the abnormal gene from both our parents. Simply put, genes are the instructions that determine how our bodies function. If there is a slight change in these instructions, the body's function can change.

In Alpha-1, a mutation in the gene called `SERPINA1` causes problems in the production of the `AAT` protein. As a result, either the `AAT` protein is not produced in sufficient quantities, or the protein that is produced takes on the wrong shape. When it takes on the wrong shape, that protein cannot leave the liver and travel through the blood to the lungs. Then that misshapen protein gets stuck in the liver, damaging the liver. Also, since there is no protein to go to the lungs, the lungs are also vulnerable.

However, some people inherit this defective gene from only one parent (either their mother or their father). We call them "carriers." Although their bodies normally produce enough `AAT` protein to protect their lungs, they are still at risk of lung damage. This risk is particularly high if they smoke.

How does this affect the lungs and liver?

To understand this, let's take a small example.

Our `AAT` protein is made in the liver. Then it travels through the blood to the lungs. Our lungs have an enzyme called `Neutrophil Elastase` that helps them fight infections. Think of this enzyme as a very fierce, skilled soldier. It destroys infections. But when it's done, someone has to stop it. Otherwise, it starts attacking our healthy lung cells too.

That "stopping" thing, that "off switch" function, is done by our `AAT` protein. It's like the commander telling the soldier, "Okay, that's enough, stop."

Now, in a person with Alpha-1, this `AAT` officer is lacking in the body. Then there is no one to stop that fierce soldier (`Neutrophil Elastase`). It keeps attacking the lungs. This causes the protein `Elastin` in the lungs to be destroyed. This elastin is what gives the air sacs (alveoli) in the lungs their elasticity and strength like a rubber band. When it is lost, the air sacs become weak and sag like a deflated balloon. This is what we call `Emphysema` . This makes it difficult to breathe and get oxygen.

What happens to the liver is a little different. Due to some genetic defects, the `AAT` protein is formed in the wrong shape. Like a piece of paper that has been folded incorrectly. Because of this wrong shape, the protein cannot leave the liver and gets stuck inside the liver. When too much protein gets stuck like this, the liver is damaged and starts to scar. That is called cirrhosis .

What are the symptoms of Alpha-1 disease?

The symptoms caused by Alpha-1 vary depending on the organ in the body affected. These are often similar to the symptoms of COPD (Chronic Obstructive Pulmonary Disease).

How to diagnose this disease?

The main way to diagnose Alpha-1 is with a blood test . Because the symptoms are similar to other diseases, it can sometimes take a while to get an accurate diagnosis. If you have liver symptoms, or if you have been diagnosed with COPD and your symptoms are not improving despite treatment, your doctor may decide to test you for Alpha-1.

The tests usually performed are:

• Blood tests: Your blood will be tested for the level of the protein `AAT`. If the level is low, genetic testing will be done to see if you have a genetic defect related to Alpha-1.
• Imaging tests: A chest X-ray or CT scan can help determine the extent and location of lung damage.
• Pulmonary function tests: Although these cannot directly detect Alpha-1, they can give your doctor an idea of ​​how well your lungs are working.
• Liver Ultrasound or FibroScan®: If there is suspicion of liver damage, these scans are performed to check for scarring in the liver.
• Liver Biopsy: If the liver damage is severe, a very small piece of tissue from the liver is taken and examined to determine the exact extent of the damage.

What are the treatments for Alpha-1?

Although there is no specific cure for Alpha-1 syndrome, there are many treatments that can control symptoms, reduce organ damage, and improve quality of life.

Treatment methods vary depending on the organ affected:

Treatment for the lungs

• Augmentation Therapy: This is a specific treatment for Alpha-1. It involves purifying the `AAT` protein taken from healthy blood donors and giving it to the body through a vein, similar to saline. While this cannot reverse the damage that has already occurred, it can largely stop or control future damage to the lungs.
• Medication: Medications such as inhalers , such as bronchodilators, are given to patients with COPD to make breathing easier.
• Oxygen therapy: If the oxygen level in the blood is low, supplemental oxygen is given through a small tube placed in the nose or a mouth mask.
• Pulmonary rehabilitation programs: Training is provided to make breathing easier through breathing exercises and other physical exercises.
• Lung transplant: If the lungs are severely damaged, a healthy lung transplant may be necessary as a last resort.

Treatment for the liver

Liver damage is treated symptomatically. However, the only way to completely cure Alpha-1 liver disease is a liver transplant . When a healthy liver is transplanted, the liver starts producing the correct `AAT` protein.

What can I do to live healthy with Alpha-1?

Even if you are diagnosed with Alpha-1, it is not the end of your life. There are many things you can do to minimize the damage to your organs.

Apart from that, also be aware of these things:

• Stay away from places where people smoke. (Avoid secondhand smoke)
• Avoid breathing in things that are harmful to your lungs, such as dust and chemicals. If you are exposed to such things at work, wear a protective mask.
• Stop drinking alcohol completely or limit it as much as possible. Alcohol can increase liver damage.
• Avoid using painkillers (e.g., taking too much paracetamol) or other herbs that can affect the liver without consulting your doctor.
• Get all the necessary vaccinations. It is especially important to get vaccinated against diseases such as pneumonia, influenza (flu), COVID-19, and hepatitis A and B, which affect the liver.
• Wash your hands often, stay clean, and protect yourself from infections.
• If someone in your family has Alpha-1, it's a good idea to get tested yourself. Talk to your doctor about it.
• If you have Alpha-1 or are a carrier, it is very important to talk to a genetic counselor if you are planning to have children.

When should you see a doctor?

• If you have the lung or liver symptoms we talked about earlier.
• If someone in your family has been diagnosed with Alpha-1.
• If you are diagnosed and treated for COPD or asthma, but your symptoms are not improving, talk to your doctor about getting an Alpha-1 test.
• If you already have Alpha-1, see your doctor immediately if new symptoms appear or existing symptoms worsen.

Living with Alpha-1 can be challenging. But with the right knowledge, treatment, and lifestyle, you too can live a healthy, active life. The best way to do that is to talk openly with your doctor and come up with a plan that works for you.

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