Alpha-1 antitrypsin deficiency (AATD) in children

Alpha-1 antitrypsin deficiency (AATD) is a genetic disorder, which means it is passed on to you from your parents. This can cause serious lung or liver disease. You may also hear it referred to as AATD. Symptoms often include difficulty breathing and jaundice or yellowing of the skin.

There is no cure, but treatment can help manage liver and respiratory problems.

You get sick because your liver doesn't make enough of a protein called alpha-1 antitrypsin. You need alpha-1 antitrypsin to protect your lungs. Without it, infections and other irritants like tobacco smoke destroy parts of your lungs even faster.

If you are alpha-1 antitrypsin deficient, you may not have respiratory symptoms until you are in your 20s or 30s. When they start, you may feel short of breath or wheeze when you breathe, similar to people with asthma.

In some people, AATD can cause chronic obstructive pulmonary disease. If you have chronic obstructive pulmonary disease (COPD), you often have symptoms of emphysema, a serious condition that makes it difficult for you to get air out of your lungs. Chronic obstructive pulmonary disease can cause coughing up mucus, wheezing, or difficulty breathing and chest tightness.

You may also have chronic bronchitis, an irritation of the airways that causes severe coughing and trouble breathing.

You may need to take your medicines with an inhaler you carry with you, such as the one used by people with asthma. This is what you will need for the rest of your life.

Keep in mind that no two cases of AATD are the same. Not everyone has severe symptoms. After treatment, you will probably still be able to work, exercise, and enjoy many of your favorite hobbies.

Reach out to your circle of friends and family and ask your doctor about support groups. It can be helpful to talk to people who understand what you're going through.

Symptoms of AATD

You may not know you have a disease until you are an adult. Most people get it between the ages of 20 and 40. You may feel short of breath, especially during exercise. You may also begin to wheeze or wheeze when you breathe.

You can also get many lung infections. Other warning signs include:

Feeling tired
Your heart beats fast when you stand up
Weight loss

If AATD causes problems with your liver, you could have symptoms like:

Yellowish skin or eyes
Swollen belly or legs
Coughing up blood

A newborn baby might have:

Jaundice, a yellow tint to the skin or eyes
Yellow urine
Trouble gaining weight
An enlarged liver
Bleeding from the nose or umbilical stump

It's rare, but some people also have a skin condition called panniculitis. This causes hardening of the skin as well as painful bumps or blemishes.

Causes of AATD

AATD runs in families. If you have it, you have inherited it from defective genes passed down to you by both parents.

Some people have the genes but no symptoms. Or they have a mild form of the disease.

Broken genes inherited from parents lead to low levels of the alpha-1 antitrypsin protein in the blood. It can accumulate in the liver instead of entering the bloodstream.

This buildup in your liver causes liver disease. Lack of the alpha-1 antitrypsin protein in the bloodstream leads to lung disease.

Tests for AATD

Your doctor may ask you questions such as:

Do you feel short of breath?
Have you been getting a lot of colds or lung infections?
Have you lost weight lately?
Have you noticed any yellowing of your skin or eyes?

Your doctor will also listen to you breathe with a stethoscope to check for wheezing or other signs that your lungs are not working properly.

You need to take blood tests to confirm the diagnosis. These tests check to see if you have the broken genes that cause AATD. They also look at how much protein you have in your blood.

Your doctor will also check your lungs and liver to see how much damage the disease has caused. For example, a chest x-ray may show signs of emphysema.

A special blood test checks the level of oxygen in your arteries, which is a sign that your lungs are working properly. You can breathe into a tube to see how much air is getting into your lungs.

Another blood test checks for liver problems. You may also want to have a liver biopsy. For this test, your doctor uses a very thin needle to remove some cells from your liver and check for signs of damage.

Treatment of AATD

Although there is no cure for AATD, you can increase the amount of alpha-1 antitrypsin protein in your blood, which will protect you from further lung damage. Doctors call this augmentation therapy. You can also get this treatment if you have emphysema.

Augmentation therapy is also called replacement therapy. You receive a fresh supply of Alpha-1 Antitrypsin protein from the blood of healthy donors. You receive treatment once a week. The alpha-1 replacement enters the body intravenously. You can do this at home with the help of a technician, or you can go to a doctor.

The goal of augmentation therapy is to slow or stop lung damage. It will not reverse the disease or heal the damage already done to you. You will need these procedures for the rest of your life.

Depending on how you feel, you may also be given medication that you breathe into your lungs with an inhaler. Doctors call it a bronchodilator, which means it opens up your airways.

If your breathing problems are causing low blood oxygen levels, you may need supplemental oxygen through a mask or nosepiece. Your doctor will also recommend pulmonary rehabilitation to help you breathe better.

Taking care of yourself

Good habits are important to help you stay healthy with this condition. You should not smoke and you should get your pneumonia and flu shots every year. Talk to your doctor about how to safely do exercises that strengthen your lungs.

Proper nutrition can help keep your liver healthy. Avoid dust and smoke and wash your hands frequently to avoid infection. Limit your alcohol intake to protect your liver.

Children with AATD may need a special formula or supplemental vitamins. It is also important for them to have regular medical check-ups to monitor the functioning of their lungs and liver.

The support of loved ones and others with the same condition also goes a long way, so you know there are people out there who understand what you're going through.

Questions for the doctor

Ask your doctor any questions you have about this condition. You can start with these:

Have you treated other people with AATD?
How can I protect my lungs and liver?
What treatment do you suggest?
How will we know how I'm doing?
Should I get my children tested for this condition?

What to expect

AATD is different for everyone. Some people have serious problems. Others may have little or no symptoms.

In infants and children, the disease is more likely to cause liver damage than lung problems. However, only about 10% of sick children have severe liver disease. Children with AATD may also have asthma.

You will be more sensitive to smoke and dust. Even a common cold can lead to breathing problems. About 30-40% of people with this condition will have liver problems at some point in their lives. Finding out if you have an AATD is the first step towards healthy habits and treatments that help control the disease.